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CRYBG2 crystallin beta-gamma domain containing 2 [ Homo sapiens (human) ]

Gene ID: 55057, updated on 3-Apr-2024

Summary

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Official Symbol
CRYBG2provided by HGNC
Official Full Name
crystallin beta-gamma domain containing 2provided by HGNC
Primary source
HGNC:HGNC:17295
See related
Ensembl:ENSG00000176092 MIM:619765; AllianceGenome:HGNC:17295
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AIM1L
Summary
Predicted to enable carbohydrate binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in esophagus (RPKM 18.9), skin (RPKM 6.5) and 5 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1p36.11
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26321865..26354130, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26159318..26197894, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26648356..26680621, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26606098-26606985 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26606986-26607872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26610368-26610958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 487 Neighboring gene SH3 domain binding glutamate rich protein like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26616244-26617056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26617057-26617870 Neighboring gene UBX domain protein 11 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:26629035-26630234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 493 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:26644239-26644431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26645229-26646214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26648235-26648736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26655253-26655760 Neighboring gene CD52 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 498 Neighboring gene ribosomal protein L34 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26672818-26673571 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:26675860-26676706 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:26677922-26678120 Neighboring gene Sharpr-MPRA regulatory region 4973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26688162-26688861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26690731-26691232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26691233-26691732 Neighboring gene zinc finger protein 683 Neighboring gene CRISPRi-validated cis-regulatory element chr1.3775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26735457-26736016 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26736017-26736574 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:26745031-26745602 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26746747-26747317 Neighboring gene lin-28 homolog A Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:26756121-26756849

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. Absent in melanoma 1-like (AIM1L) serves as a novel candidate for overall survival in hepatocellular carcinoma. Zhou W, et al. Bioengineered, 2021 Dec. PMID 34130591, Free PMC Article
  2. Cloning and tissue expression of the mouse ortholog of AIM1, a betagamma-crystallin superfamily member. Teichmann U, et al. Mamm Genome, 1998 Sep. PMID 9716656
  3. Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library. Adams MD, et al. Nat Genet, 1993 Aug. PMID 8401585
  4. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. Szafranski K, et al. Genome Biol, 2007. PMID 17672918, Free PMC Article
  5. Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. Fu GK, et al. Genomics, 2004 Jul. PMID 15203218

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Absent in melanoma 1-like (AIM1L) serves as a novel candidate for overall survival in hepatocellular carcinoma.
    Title: Absent in melanoma 1-like (AIM1L) serves as a novel candidate for overall survival in hepatocellular carcinoma.
  2. The apparent occurrence of an unusual TG 3' splice site in intron 2 is critically discussed.
    Title: Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
Submit: New GeneRIF Correction

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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

  • FLJ10040, FLJ38020, DKFZp434L1713

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
beta/gamma crystallin domain-containing protein 2
Names
absent in melanoma 1 like
absent in melanoma 1-like protein
beta-gamma crystallin domain containing 2

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_001039775.4 → NP_001034864.2  beta/gamma crystallin domain-containing protein 2

    See identical proteins and their annotated locations for NP_001034864.2

    Status: VALIDATED

    Source sequence(s)
    AK000902, AK095339, AL451139, CD628851, DA439029, DA456217, DR004727
    UniProtKB/Swiss-Prot
    B2RNG3, Q5T137, Q5T150, Q8N1P7
    UniProtKB/TrEMBL
    E7ET48
    Related
    ENSP00000310435.6, ENST00000308182.10
    Conserved Domains (3) summary
    PHA03247
    Location:248 → 710
    PHA03247; large tegument protein UL36; Provisional
    pfam00030
    Location:1169 → 1255
    Crystall; Beta/Gamma crystallin
    cl26069
    Location:1569 → 1656
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    26321865..26354130 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541672.2 → XP_011539974.1  beta/gamma crystallin domain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    E7ET48
    Conserved Domains (3) summary
    pfam00030
    Location:1158 → 1243
    Crystall; Beta/Gamma crystallin
    pfam05466
    Location:499 → 740
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
    cl23784
    Location:1578 → 1647
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...

  2. XM_005245918.3 → XP_005245975.1  beta/gamma crystallin domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005245975.1

    UniProtKB/Swiss-Prot
    B2RNG3, Q5T137, Q5T150, Q8N1P7
    UniProtKB/TrEMBL
    E7ET48
    Related
    ENSP00000428746.2, ENST00000475866.3
    Conserved Domains (3) summary
    PHA03247
    Location:248 → 710
    PHA03247; large tegument protein UL36; Provisional
    pfam00030
    Location:1169 → 1255
    Crystall; Beta/Gamma crystallin
    cl26069
    Location:1569 → 1656
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

  3. XM_011541673.3 → XP_011539975.1  beta/gamma crystallin domain-containing protein 2 isoform X4

    UniProtKB/TrEMBL
    E7ET48
    Conserved Domains (3) summary
    pfam00030
    Location:1226 → 1312
    Crystall; Beta/Gamma crystallin
    pfam05466
    Location:556 → 797
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
    cl23784
    Location:1647 → 1716
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...

  4. XM_047423686.1 → XP_047279642.1  beta/gamma crystallin domain-containing protein 2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    26159318..26197894 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337298.1 → XP_054193273.1  beta/gamma crystallin domain-containing protein 2 isoform X8

  2. XM_054337297.1 → XP_054193272.1  beta/gamma crystallin domain-containing protein 2 isoform X7

  3. XM_054337296.1 → XP_054193271.1  beta/gamma crystallin domain-containing protein 2 isoform X6

  4. XM_054337295.1 → XP_054193270.1  beta/gamma crystallin domain-containing protein 2 isoform X5

  5. XM_054337300.1 → XP_054193275.1  beta/gamma crystallin domain-containing protein 2 isoform X4

  6. XM_054337299.1 → XP_054193274.1  beta/gamma crystallin domain-containing protein 2 isoform X9

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017977.2: Suppressed sequence

    Description
    NM_017977.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N1P7.2 GenPept UniProtKB/Swiss-Prot:Q8N1P7

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