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AUTS2 activator of transcription and developmental regulator AUTS2 [ Homo sapiens (human) ]

Gene ID: 26053, updated on 3-Apr-2024

Summary

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Official Symbol
AUTS2provided by HGNC
Official Full Name
activator of transcription and developmental regulator AUTS2provided by HGNC
Primary source
HGNC:HGNC:14262
See related
Ensembl:ENSG00000158321 MIM:607270; AllianceGenome:HGNC:14262
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
MRD26; FBRSL2
Summary
This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]
Expression
Ubiquitous expression in salivary gland (RPKM 2.5), skin (RPKM 2.4) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See AUTS2 in Genome Data Viewer
Location:
7q11.22
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (69598475..70793506)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (70821258..72017159)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (69063461..70258492)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18224 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:69073614-69074587 Neighboring gene NANOG hESC enhancer GRCh37_chr7:69075092-69075654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26096 Neighboring gene Sharpr-MPRA regulatory region 1350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26100 Neighboring gene Sharpr-MPRA regulatory region 8911 Neighboring gene NANOG hESC enhancer GRCh37_chr7:69209815-69210316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26101 Neighboring gene cancer/testis associated transcript 66 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26103 Neighboring gene VISTA enhancer hs2315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26104 Neighboring gene VISTA enhancer hs1660 Neighboring gene NANOG hESC enhancer GRCh37_chr7:69537097-69537598 Neighboring gene VISTA enhancer hs1425 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:69604114-69604315 Neighboring gene NANOG hESC enhancer GRCh37_chr7:69615911-69616412 Neighboring gene VISTA enhancer hs2316 Neighboring gene heart enhancer 21 Neighboring gene VISTA enhancer hs658 Neighboring gene VISTA enhancer hs2317 Neighboring gene VISTA enhancer hs2318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:69813727-69814226 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:69857943-69858138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:69881219-69881824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:69881825-69882428 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:69917332-69917455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:69961601-69962108 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:69969942-69971141 Neighboring gene uncharacterized LOC124901669 Neighboring gene uncharacterized LOC124901668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:70061071-70061572 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:70079304-70079836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70095779-70096557 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70096558-70097335 Neighboring gene VISTA enhancer hs925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:70111719-70112218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26110 Neighboring gene MPRA-validated peak6564 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70145703-70146628 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70146629-70147554 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18231 Neighboring gene uncharacterized LOC107986709 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:70164947-70165914 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:70168599-70169443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:70176010-70176532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26111 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:70189901-70190592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18232 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70193362-70193882 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70193883-70194402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18233 Neighboring gene uncharacterized LOC105375347 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70227272-70227983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18235 Neighboring gene neuroepithelial cell transforming 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70303269-70304021 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:70300982-70302181 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99892 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:70323140-70324089 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70334305-70334806 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70349305-70349988 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70349989-70350672 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70359189-70359954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70357656-70358422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26113 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70359955-70360720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26115 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70372487-70372988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70372989-70373488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:70399984-70400486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70704063-70704563 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70720332-70720840 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70720841-70721350 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 17 Neighboring gene microRNA 3914-1 Neighboring gene microRNA 3914-2

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. Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulator AUTS2 gene. Novotný A, et al. Nucleic Acids Res, 2023 Apr 11. PMID 36864756, Free PMC Article
  2. Cerebral organoids containing an AUTS2 missense variant model microcephaly. Fair SR, et al. Brain, 2023 Jan 5. PMID 35802027, Free PMC Article
  3. Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene. Anikiej-Wiczenbach P, et al. J Appl Genet, 2022 Sep. PMID 35525889
  4. Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation. Sanchez-Jimeno C, et al. Genes (Basel), 2021 Aug 30. PMID 34573342, Free PMC Article
  5. Germ cell mosaicism for AUTS2 exon 6 deletion. Gieldon L, et al. Am J Med Genet A, 2021 Apr. PMID 33577136

See all (79) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies.
    Title: Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies.
  2. Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulator AUTS2 gene.
    Title: Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulator AUTS2 gene.
  3. Cerebral organoids containing an AUTS2 missense variant model microcephaly.
    Title: Cerebral organoids containing an AUTS2 missense variant model microcephaly.
  4. Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene.
    Title: Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene.
  5. Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
    Title: Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
  6. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
    Title: NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
  7. Germ cell mosaicism for AUTS2 exon 6 deletion.
    Title: Germ cell mosaicism for AUTS2 exon 6 deletion.
  8. Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
    Title: Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
  9. Effect of AUTS2 gene rs6943555 variant in male patients with schizophrenia in a Turkish population.
    Title: Effect of AUTS2 gene rs6943555 variant in male patients with schizophrenia in a Turkish population.
  10. The intragenic exon rearrangements (IERs) involved in SOBP (6q21) exon 2 and 3 and AUTS2 (7q11.22) exon 2-4 were the molecular lesions specific to tumors and were frequently detected in non-Hodgkin B cell lymphoma (B-NHL) samples. These IERs constitute novel genetic alterations of B-NHL, which might be associated with tumorigenesis and be useful as genetic biological markers.
    Title: Recurrent intragenic exon rearrangements of SOBP and AUTS2 in non-Hodgkin B-cell lymphoma.
Submit: New GeneRIF Correction See all GeneRIFs (41)

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

Associated conditions

Description Tests
Autism spectrum disorder due to AUTS2 deficiency
MedGen: C4014435 OMIM: 615834 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-06-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-24)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.
EBI GWAS Catalog
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
EBI GWAS Catalog
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0442, MGC13140

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in axon extension ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in dendrite extension ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of Rac protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of lamellipodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cellular_component ND
No biological Data available
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in growth cone ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
autism susceptibility gene 2 protein
Names
AUTS2, activator of transcription and developmental regulator
autism susceptibility candidate 2
autism-related protein 1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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.

Genomic

  1. NG_034133.1 RefSeqGene

    Range
    4557..1199588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127231.3 → NP_001120703.1  autism susceptibility gene 2 protein isoform 2

    See identical proteins and their annotated locations for NP_001120703.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC006012, AC073873, AF326917, AW972135, BC064693, CA450113
    Consensus CDS
    CCDS47601.1
    UniProtKB/Swiss-Prot
    Q8WXX7
    Related
    ENSP00000385263.2, ENST00000406775.6
    Conserved Domains (2) summary
    pfam14650
    Location:322 → 383
    FAM75; FAM75 family
    pfam15336
    Location:621 → 833
    Auts2; Autism susceptibility gene 2 protein

  2. NM_001127232.3 → NP_001120704.1  autism susceptibility gene 2 protein isoform 3

    See identical proteins and their annotated locations for NP_001120704.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC006012, AC073148, BC011643, BC064693, BG208279
    Consensus CDS
    CCDS47602.1
    UniProtKB/Swiss-Prot
    Q8WXX7
    Related
    ENSP00000385572.2, ENST00000403018.3

  3. NM_015570.4 → NP_056385.1  autism susceptibility gene 2 protein isoform 1

    See identical proteins and their annotated locations for NP_056385.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC006012, AC073873, AF326917, AW972135, BC064693, CA450113
    Consensus CDS
    CCDS5539.1
    UniProtKB/Swiss-Prot
    A4D1Y9, L7QET3, L7QF75, Q5D049, Q6PJU5, Q8WXX7, Q9Y4F2
    UniProtKB/TrEMBL
    Q75MD7
    Related
    ENSP00000344087.4, ENST00000342771.10
    Conserved Domains (2) summary
    pfam14650
    Location:322 → 383
    FAM75; FAM75 family
    pfam15336
    Location:645 → 857
    Auts2; Autism susceptibility gene 2 protein

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    69598475..70793506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516010.3 → XP_011514312.1  autism susceptibility gene 2 protein isoform X1

    Conserved Domains (2) summary
    pfam14650
    Location:322 → 383
    FAM75; FAM75 family
    pfam15336
    Location:652 → 864
    Auts2; Autism susceptibility gene 2 protein

  2. XM_011516013.3 → XP_011514315.1  autism susceptibility gene 2 protein isoform X6

    Conserved Domains (2) summary
    pfam14650
    Location:322 → 383
    FAM75; FAM75 family
    pfam15336
    Location:628 → 840
    Auts2; Autism susceptibility gene 2 protein

  3. XM_011516014.3 → XP_011514316.1  autism susceptibility gene 2 protein isoform X8

    Conserved Domains (2) summary
    pfam14650
    Location:322 → 383
    FAM75; FAM75 family
    pfam15336
    Location:618 → 830
    Auts2; Autism susceptibility gene 2 protein

  4. XM_047420157.1 → XP_047276113.1  autism susceptibility gene 2 protein isoform X9

  5. XM_011516012.3 → XP_011514314.1  autism susceptibility gene 2 protein isoform X4

    UniProtKB/TrEMBL
    Q75MD7
    Conserved Domains (2) summary
    pfam14650
    Location:322 → 383
    FAM75; FAM75 family
    pfam15336
    Location:630 → 842
    Auts2; Autism susceptibility gene 2 protein

  6. XM_047420159.1 → XP_047276115.1  autism susceptibility gene 2 protein isoform X11

  7. XM_047420161.1 → XP_047276117.1  autism susceptibility gene 2 protein isoform X13

  8. XM_011516011.3 → XP_011514313.1  autism susceptibility gene 2 protein isoform X2

    Conserved Domains (2) summary
    pfam14650
    Location:322 → 383
    FAM75; FAM75 family
    pfam15336
    Location:651 → 863
    Auts2; Autism susceptibility gene 2 protein

  9. XM_047420154.1 → XP_047276110.1  autism susceptibility gene 2 protein isoform X3

    UniProtKB/TrEMBL
    A0A2R8Y8C6
    Related
    ENSP00000496726.1, ENST00000644939.1

  10. XM_047420156.1 → XP_047276112.1  autism susceptibility gene 2 protein isoform X7

  11. XM_047420158.1 → XP_047276114.1  autism susceptibility gene 2 protein isoform X10

  12. XM_047420155.1 → XP_047276111.1  autism susceptibility gene 2 protein isoform X5

  13. XM_047420160.1 → XP_047276116.1  autism susceptibility gene 2 protein isoform X12

  14. XM_047420162.1 → XP_047276118.1  autism susceptibility gene 2 protein isoform X14

  15. XM_047420166.1 → XP_047276122.1  autism susceptibility gene 2 protein isoform X19

  16. XM_047420167.1 → XP_047276123.1  autism susceptibility gene 2 protein isoform X19

  17. XM_047420168.1 → XP_047276124.1  autism susceptibility gene 2 protein isoform X19

  18. XM_011516018.3 → XP_011514320.1  autism susceptibility gene 2 protein isoform X21

    UniProtKB/TrEMBL
    Q75MD7
    Conserved Domains (2) summary
    pfam14650
    Location:155 → 216
    FAM75; FAM75 family
    pfam15336
    Location:485 → 697
    Auts2; Autism susceptibility gene 2 protein

  19. XM_011516017.3 → XP_011514319.1  autism susceptibility gene 2 protein isoform X15

    UniProtKB/TrEMBL
    Q75MD7
    Conserved Domains (2) summary
    pfam14650
    Location:164 → 225
    FAM75; FAM75 family
    pfam15336
    Location:494 → 706
    Auts2; Autism susceptibility gene 2 protein

  20. XM_047420164.1 → XP_047276120.1  autism susceptibility gene 2 protein isoform X17

    Related
    ENSP00000478134.1, ENST00000611706.4

  21. XM_047420163.1 → XP_047276119.1  autism susceptibility gene 2 protein isoform X16

  22. XM_047420169.1 → XP_047276125.1  autism susceptibility gene 2 protein isoform X20

  23. XM_047420165.1 → XP_047276121.1  autism susceptibility gene 2 protein isoform X18

  24. XM_047420171.1 → XP_047276127.1  autism susceptibility gene 2 protein isoform X23

    UniProtKB/TrEMBL
    A0A024RDL5
    Related
    ENSP00000496672.1, ENST00000644506.1

  25. XM_047420170.1 → XP_047276126.1  autism susceptibility gene 2 protein isoform X23

    UniProtKB/TrEMBL
    A0A024RDL5
    Related
    ENSP00000494561.1, ENST00000644359.1

  26. XM_005250257.3 → XP_005250314.1  autism susceptibility gene 2 protein isoform X22

    UniProtKB/TrEMBL
    A0A2R8Y568
    Related
    ENSP00000494226.1, ENST00000647140.1
    Conserved Domains (1) summary
    pfam15336
    Location:194 → 406
    Auts2; Autism susceptibility gene 2 protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    70821258..72017159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357813.1 → XP_054213788.1  autism susceptibility gene 2 protein isoform X1

  2. XM_054357818.1 → XP_054213793.1  autism susceptibility gene 2 protein isoform X6

  3. XM_054357820.1 → XP_054213795.1  autism susceptibility gene 2 protein isoform X8

  4. XM_054357821.1 → XP_054213796.1  autism susceptibility gene 2 protein isoform X9

  5. XM_054357816.1 → XP_054213791.1  autism susceptibility gene 2 protein isoform X4

  6. XM_054357823.1 → XP_054213798.1  autism susceptibility gene 2 protein isoform X11

  7. XM_054357825.1 → XP_054213800.1  autism susceptibility gene 2 protein isoform X13

  8. XM_054357814.1 → XP_054213789.1  autism susceptibility gene 2 protein isoform X2

  9. XM_054357815.1 → XP_054213790.1  autism susceptibility gene 2 protein isoform X3

    UniProtKB/TrEMBL
    A0A2R8Y8C6

  10. XM_054357819.1 → XP_054213794.1  autism susceptibility gene 2 protein isoform X7

  11. XM_054357822.1 → XP_054213797.1  autism susceptibility gene 2 protein isoform X10

  12. XM_054357817.1 → XP_054213792.1  autism susceptibility gene 2 protein isoform X5

  13. XM_054357824.1 → XP_054213799.1  autism susceptibility gene 2 protein isoform X12

  14. XM_054357826.1 → XP_054213801.1  autism susceptibility gene 2 protein isoform X14

  15. XM_054357832.1 → XP_054213807.1  autism susceptibility gene 2 protein isoform X19

  16. XM_054357833.1 → XP_054213808.1  autism susceptibility gene 2 protein isoform X19

  17. XM_054357835.1 → XP_054213810.1  autism susceptibility gene 2 protein isoform X21

  18. XM_054357831.1 → XP_054213806.1  autism susceptibility gene 2 protein isoform X19

  19. XM_054357827.1 → XP_054213802.1  autism susceptibility gene 2 protein isoform X15

  20. XM_054357829.1 → XP_054213804.1  autism susceptibility gene 2 protein isoform X17

  21. XM_054357828.1 → XP_054213803.1  autism susceptibility gene 2 protein isoform X16

  22. XM_054357834.1 → XP_054213809.1  autism susceptibility gene 2 protein isoform X20

  23. XM_054357830.1 → XP_054213805.1  autism susceptibility gene 2 protein isoform X18

  24. XM_054357836.1 → XP_054213811.1  autism susceptibility gene 2 protein isoform X22

  25. XM_054357837.1 → XP_054213812.1  autism susceptibility gene 2 protein isoform X22

  26. XM_054357838.1 → XP_054213813.1  autism susceptibility gene 2 protein isoform X22

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WXX7.1 GenPept UniProtKB/Swiss-Prot:Q8WXX7

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