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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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