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APBA2 amyloid beta precursor protein binding family A member 2 [ Homo sapiens (human) ]

Gene ID: 321, updated on 3-Apr-2024

Summary

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Official Symbol
APBA2provided by HGNC
Official Full Name
amyloid beta precursor protein binding family A member 2provided by HGNC
Primary source
HGNC:HGNC:579
See related
Ensembl:ENSG00000034053 MIM:602712; AllianceGenome:HGNC:579
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
X11L; MINT2; LIN-10; HsT16821; X11-BETA; D15S1518E; MGC:14091
Summary
The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]
Expression
Biased expression in brain (RPKM 16.8), spleen (RPKM 2.5) and 4 other tissues See more
Orthologs
mouse all
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Genomic context

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See APBA2 in Genome Data Viewer
Location:
15q13.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (28885974..29118315)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (26662979..26895835)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (29131120..29410518)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene PDCD6IP pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr15:29089626-29090172 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:29093924-29094058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29105715-29106316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29122227-29122847 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29120363-29120984 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29120985-29121605 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29121606-29122226 Neighboring gene golgin A6 family like 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:29141496-29142056 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:29144665-29144856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29145615-29146168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29146721-29147272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29147273-29147824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29148359-29148860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29148861-29149360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29210321-29210843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29211011-29211600 Neighboring gene ferritin light chain pseudogene 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29227603-29228102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29240656-29241156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29246587-29247088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29247089-29247588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29247601-29248114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29283117-29283618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29283619-29284118 Neighboring gene MPRA-validated peak2281 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:29307813-29308019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29356146-29356657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29356658-29357170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29379537-29380038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29407365-29408165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29424556-29425172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29432077-29432890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29454119-29454628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29454629-29455137 Neighboring gene endosomal transmembrane epsin interactor 2 Neighboring gene DDB1 and CUL4 associated factor 6 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:29561321-29561822 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:29561823-29562322 Neighboring gene NSE3 homolog, SMC5-SMC6 complex component

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Exploratory locomotion, a predictor of addiction vulnerability, is oligogenic in rats selected for this phenotype. Zhou Z, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182603, Free PMC Article
  2. Circulating methylated MINT2 promoter DNA is a potential poor prognostic factor in gastric cancer. Han J, et al. Dig Dis Sci, 2014 Jun. PMID 24385013
  3. Gene expression changes in peripheral blood from Chinese Han patients with Tourette syndrome. Lei J, et al. Am J Med Genet B Neuropsychiatr Genet, 2012 Dec. PMID 23076970
  4. Promoter characterization and genomic organization of the human X11β gene APBA2. Hao Y, et al. Neuroreport, 2012 Feb 15. PMID 22222501
  5. Copy number and sequence variants implicate APBA2 as an autism candidate gene. Babatz TD, et al. Autism Res, 2009 Dec. PMID 20029827

See all (66) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function.
    Title: A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function.
  2. Using exome sequencing and QTL analysis, study identified seven genome-wide significant loci accounting for approximately one-third of total variance and two-thirds of genetic variance in exploratory locomotion (EL), a behavioral phenotype correlated with vulnerability to addiction, and found convergent evidence for a role of APBA2 in humans.
    Title: Exploratory locomotion, a predictor of addiction vulnerability, is oligogenic in rats selected for this phenotype.
  3. These results support the hypothesis that APBA2 gene expression in different areas of Alzheimer's patient's brains.
    Title: Change in INSR, APBA2 and IDE Gene Expressions in Brains of Alzheimer's Disease Patients.
  4. Mints are necessary for activity-induced APP and PS1 trafficking and provide insight into the cellular fate of APP in endocytic pathways essential for Abeta production.
    Title: Mint proteins are required for synaptic activity-dependent amyloid precursor protein (APP) trafficking and amyloid β generation.
  5. Aberrant MINT2 methylation in body fluids may predict peritoneal micrometastasis for gastric cancer (GC) patients, which is a potential poor prognostic factor in GC.
    Title: Circulating methylated MINT2 promoter DNA is a potential poor prognostic factor in gastric cancer.
  6. a significant difference was shown for APBA2 gene expression of peripheral lymphocytes between Chinese Han Tourette syndrome (TS) group and healthy controls idicating the APBA2 gene is a promising peripheral blood biomarker that discriminates between patients with TS and healthy subjects
    Title: Gene expression changes in peripheral blood from Chinese Han patients with Tourette syndrome.
  7. Amyloid beta A4 precursor protein-binding family A member 2 contains a potent neuronal promoter whose activity may be regulated by DNA methylation and glucocorticoid receptor [alpha], paired box protein 5.
    Title: Promoter characterization and genomic organization of the human X11β gene APBA2.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  9. The co-occurrence of two nonsynonymous mutations in both affected siblings in a single family, each transmitted from a different unaffected parent, suggest a role for APBA2 mutations in rare individuals with ASD.
    Title: Copy number and sequence variants implicate APBA2 as an autism candidate gene.
  10. APBA2 were genes activated in early endometrial endometrioid carcinoma (stages I-II).
    Title: Increased epithelial stem cell traits in advanced endometrial endometrioid carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
EBI GWAS Catalog
Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC99508

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
  
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in presynaptic modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in presynapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
amyloid-beta A4 precursor protein-binding family A member 2
Names
X11-like protein
adapter protein X11beta
amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)
mint-2
neuron-specific X11L protein
neuronal munc18-1-interacting protein 2
phosphotyrosine-binding/-interacting domain (PTB)-bearing protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001130414.1 → NP_001123886.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

    See identical proteins and their annotated locations for NP_001123886.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AB014719, AB209281, AC024474, AK310413, BC082986, BM665057, BX332225
    Consensus CDS
    CCDS45197.1
    UniProtKB/TrEMBL
    Q59G28
    Related
    ENSP00000409312.1, ENST00000411764.5
    Conserved Domains (3) summary
    cd00992
    Location:645 → 718
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 523
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:556 → 639
    PDZ; PDZ domain (Also known as DHR or GLGF)

  2. NM_001353788.2 → NP_001340717.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AC174469, AF047348
    Consensus CDS
    CCDS10022.1
    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Related
    ENSP00000507394.1, ENST00000683413.1
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  3. NM_001353789.2 → NP_001340718.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AC174469, AF047348
    Consensus CDS
    CCDS10022.1
    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  4. NM_001353790.2 → NP_001340719.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AC174469, AF047348
    Consensus CDS
    CCDS10022.1
    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  5. NM_001353791.2 → NP_001340720.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AF047348
    Consensus CDS
    CCDS10022.1
    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  6. NM_001353792.2 → NP_001340721.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AC174469, AF047348
    Consensus CDS
    CCDS45197.1
    UniProtKB/TrEMBL
    Q59G28
    Related
    ENSP00000452722.1, ENST00000558330.5
    Conserved Domains (3) summary
    cd00992
    Location:645 → 718
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 523
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:556 → 639
    PDZ; PDZ domain (Also known as DHR or GLGF)

  7. NM_001353793.2 → NP_001340722.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AF047348
    Consensus CDS
    CCDS45197.1
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (3) summary
    cd00992
    Location:645 → 718
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 523
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:556 → 639
    PDZ; PDZ domain (Also known as DHR or GLGF)

  8. NM_001353794.2 → NP_001340723.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AF047348
    Consensus CDS
    CCDS45197.1
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (3) summary
    cd00992
    Location:645 → 718
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 523
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:556 → 639
    PDZ; PDZ domain (Also known as DHR or GLGF)

  9. NM_001353795.2 → NP_001340724.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform c

    Status: REVIEWED

    Source sequence(s)
    AA861797, AC024474, AC127522, AC174469
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (2) summary
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  10. NM_001353796.2 → NP_001340725.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AF047348
    Conserved Domains (3) summary
    cd00992
    Location:361 → 434
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:67 → 239
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:272 → 355
    PDZ; PDZ domain (Also known as DHR or GLGF)

  11. NM_001353797.2 → NP_001340726.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AF047348
    Conserved Domains (3) summary
    cd00992
    Location:349 → 422
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:67 → 227
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:260 → 343
    PDZ; PDZ domain (Also known as DHR or GLGF)

  12. NM_001379685.1 → NP_001366614.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AC174469
    Consensus CDS
    CCDS10022.1
    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Related
    ENSP00000453293.1, ENST00000558402.5
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  13. NM_005503.3 → NP_005494.2  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

    See identical proteins and their annotated locations for NP_005494.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB014719, AB209281, AC024474, AK310413, BC082986, BM665057, BX332225
    Consensus CDS
    CCDS10022.1
    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Related
    ENSP00000454171.1, ENST00000558259.5
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    28885974..29118315
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432424.1 → XP_047288380.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  2. XM_011521489.3 → XP_011519791.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011519791.1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  3. XM_047432416.1 → XP_047288372.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  4. XM_047432409.1 → XP_047288365.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  5. XM_047432420.1 → XP_047288376.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  6. XM_011521490.3 → XP_011519792.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011519792.1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  7. XM_047432425.1 → XP_047288381.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  8. XM_024449909.2 → XP_024305677.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (2) summary
    cd01208
    Location:363 → 525
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:651 → 722
    PDZ; PDZ domain (Also known as DHR or GLGF)

  9. XM_047432417.1 → XP_047288373.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  10. XM_047432411.1 → XP_047288367.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  11. XM_047432426.1 → XP_047288382.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X4

  12. XM_047432412.1 → XP_047288368.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  13. XM_047432413.1 → XP_047288369.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  14. XM_047432410.1 → XP_047288366.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  15. XM_047432415.1 → XP_047288371.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  16. XM_047432419.1 → XP_047288375.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  17. XM_011521488.4 → XP_011519790.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011519790.1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  18. XM_047432414.1 → XP_047288370.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  19. XM_047432421.1 → XP_047288377.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  20. XM_047432418.1 → XP_047288374.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  21. XM_047432422.1 → XP_047288378.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  22. XM_011521492.3 → XP_011519794.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011519794.1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  23. XM_047432423.1 → XP_047288379.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  24. XM_017022112.3 → XP_016877601.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  25. XM_011521491.2 → XP_011519793.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011519793.1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767
    UniProtKB/TrEMBL
    Q59G28
    Conserved Domains (3) summary
    cd00992
    Location:657 → 730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363 → 535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568 → 651
    PDZ; PDZ domain (Also known as DHR or GLGF)

  26. XM_047432427.1 → XP_047288383.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X5

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p14 PATCHES

    Range
    1047956..1280878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331784.1 → XP_054187759.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  2. XM_054331766.1 → XP_054187741.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  3. XM_054331780.1 → XP_054187755.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  4. XM_054331773.1 → XP_054187748.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  5. XM_054331776.1 → XP_054187751.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  6. XM_054331762.1 → XP_054187737.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  7. XM_054331781.1 → XP_054187756.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  8. XM_054331764.1 → XP_054187739.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  9. XM_054331785.1 → XP_054187760.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  10. XM_054331778.1 → XP_054187753.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  11. XM_054331787.1 → XP_054187762.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  12. XM_054331771.1 → XP_054187746.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  13. XM_054331783.1 → XP_054187758.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  14. XM_054331794.1 → XP_054187769.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X4

  15. XM_054331779.1 → XP_054187754.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  16. XM_054331774.1 → XP_054187749.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  17. XM_054331782.1 → XP_054187757.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  18. XM_054331763.1 → XP_054187738.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  19. XM_054331761.1 → XP_054187736.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  20. XM_054331775.1 → XP_054187750.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  21. XM_054331791.1 → XP_054187766.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  22. XM_054331790.1 → XP_054187765.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  23. XM_054331765.1 → XP_054187740.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  24. XM_054331792.1 → XP_054187767.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  25. XM_054331793.1 → XP_054187768.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  26. XM_054331770.1 → XP_054187745.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  27. XM_054331767.1 → XP_054187742.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  28. XM_054331789.1 → XP_054187764.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  29. XM_054331777.1 → XP_054187752.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  30. XM_054331772.1 → XP_054187747.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  31. XM_054331786.1 → XP_054187761.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  32. XM_054331769.1 → XP_054187744.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  33. XM_054331788.1 → XP_054187763.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  34. XM_054331768.1 → XP_054187743.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  35. XM_054331795.1 → XP_054187770.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X5

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    1196581..1393362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    26662979..26895835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377790.1 → XP_054233765.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  2. XM_054377769.1 → XP_054233744.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  3. XM_054377785.1 → XP_054233760.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  4. XM_054377776.1 → XP_054233751.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  5. XM_054377781.1 → XP_054233756.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  6. XM_054377765.1 → XP_054233740.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  7. XM_054377787.1 → XP_054233762.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  8. XM_054377767.1 → XP_054233742.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  9. XM_054377792.1 → XP_054233767.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  10. XM_054377779.1 → XP_054233754.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  11. XM_054377783.1 → XP_054233758.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  12. XM_054377794.1 → XP_054233769.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  13. XM_054377774.1 → XP_054233749.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  14. XM_054377789.1 → XP_054233764.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  15. XM_054377800.1 → XP_054233775.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X4

  16. XM_054377786.1 → XP_054233761.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  17. XM_054377778.1 → XP_054233753.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  18. XM_054377788.1 → XP_054233763.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  19. XM_054377766.1 → XP_054233741.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  20. XM_054377764.1 → XP_054233739.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  21. XM_054377780.1 → XP_054233755.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  22. XM_054377797.1 → XP_054233772.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  23. XM_054377796.1 → XP_054233771.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  24. XM_054377768.1 → XP_054233743.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  25. XM_054377798.1 → XP_054233773.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  26. XM_054377799.1 → XP_054233774.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  27. XM_054377777.1 → XP_054233752.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  28. XM_054377773.1 → XP_054233748.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  29. XM_054377770.1 → XP_054233745.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  30. XM_054377784.1 → XP_054233759.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  31. XM_054377791.1 → XP_054233766.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  32. XM_054377782.1 → XP_054233757.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

  33. XM_054377775.1 → XP_054233750.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  34. XM_054377793.1 → XP_054233768.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  35. XM_054377772.1 → XP_054233747.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  36. XM_054377795.1 → XP_054233770.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

  37. XM_054377771.1 → XP_054233746.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PGI4, O60571, Q5XKC0, Q99767

  38. XM_054377801.1 → XP_054233776.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99767.3 GenPept UniProtKB/Swiss-Prot:Q99767

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