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    CRYBG3 crystallin beta-gamma domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 131544, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CRYBG3provided by HGNC
    Official Full Name
    crystallin beta-gamma domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:34427
    See related
    Ensembl:ENSG00000080200 MIM:620146; AllianceGenome:HGNC:34427
    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
    vlAKAP; DKFZp667G2110
    Summary
    Enables protein kinase A binding activity. Predicted to be involved in lens development in camera-type eye and visual perception. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thyroid (RPKM 19.9), testis (RPKM 9.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CRYBG3 in Genome Data Viewer
    Location:
    3q11.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (97822011..97944984)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (100525753..100648725)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (97540855..97663828)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene EPH receptor A6 Neighboring gene uncharacterized LOC124906256 Neighboring gene NANOG hESC enhancer GRCh37_chr3:97466009-97466510 Neighboring gene H3K27ac hESC enhancers GRCh37_chr3:97482933-97483434 and GRCh37_chr3:97483435-97483934 Neighboring gene uncharacterized LOC101929298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14552 Neighboring gene uncharacterized LOC105373994 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:97614773-97615564 Neighboring gene ARF like GTPase 6 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:97628706-97629296 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:97629297-97629886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14553 Neighboring gene uncharacterized LOC124909398 Neighboring gene Sharpr-MPRA regulatory region 5379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20130 Neighboring gene ribosomal oxygenase 2 Neighboring gene gamma-aminobutyric acid type A receptor subunit rho3

    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. Long Non-Coding RNA CRYBG3 Promotes Lung Cancer Metastasis via Activating the eEF1A1/MDM2/MTBP Axis. Wu A, et al. Int J Mol Sci, 2021 Mar 22. PMID 33809929, Free PMC Article
    2. Ionizing radiation-induced long noncoding RNA CRYBG3 regulates YAP/TAZ through mechanotransduction. Zheng L, et al. Cell Death Dis, 2022 Mar 4. PMID 35246511, Free PMC Article
    3. A systematic evaluation of protein kinase A-A-kinase anchoring protein interaction motifs. Burgers PP, et al. Biochemistry, 2015 Jan 13. PMID 25097019
    4. Same but different - Molecular comparison of human KTI12 and PSTK. Smejda M, et al. Biochim Biophys Acta Mol Cell Res, 2021 Apr. PMID 33417976
    5. Local anesthetics impair the growth and self-renewal of glioblastoma stem cells by inhibiting ZDHHC15-mediated GP130 palmitoylation. Fan X, et al. Stem Cell Res Ther, 2021 Feb 4. PMID 33541421, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ionizing radiation-induced long noncoding RNA CRYBG3 regulates YAP/TAZ through mechanotransduction.
      Title: Ionizing radiation-induced long noncoding RNA CRYBG3 regulates YAP/TAZ through mechanotransduction.
    2. Long Non-Coding RNA CRYBG3 Promotes Lung Cancer Metastasis via Activating the eEF1A1/MDM2/MTBP Axis.
      Title: Long Non-Coding RNA CRYBG3 Promotes Lung Cancer Metastasis via Activating the eEF1A1/MDM2/MTBP Axis.
    3. 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.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ60082, DKFZp686L13211

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein kinase A binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of eye lens IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in lens development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    very large A-kinase anchor protein
    Names
    beta-gamma crystallin domain containing 3
    beta/gamma crystallin domain-containing protein 3

    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_153605.4 → NP_705833.3  very large A-kinase anchor protein

      See identical proteins and their annotated locations for NP_705833.3

      Status: VALIDATED

      Source sequence(s)
      AC110491, AF451988, AK091199, AK296966, BM974654
      Consensus CDS
      CCDS43113.2
      UniProtKB/Swiss-Prot
      B4DLE8, F6VHI2, Q4G0V8, Q68DQ2, Q7Z4R9, Q86VD0, Q8N262, Q8N7F1, Q8NDQ8
      Related
      ENSP00000374273.3, ENST00000389622.7
      Conserved Domains (4) summary
      cd00161
      Location:2838 → 2967
      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 ...
      pfam00030
      Location:2574 → 2655
      Crystall; Beta/Gamma crystallin
      pfam00652
      Location:2839 → 2965
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      cl02528
      Location:2406 → 2448
      Crystall; Beta/Gamma crystallin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      97822011..97944984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247117.5 → XP_005247174.1  very large A-kinase anchor protein isoform X1

      Conserved Domains (4) summary
      cd00161
      Location:2547 → 2676
      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 ...
      pfam00030
      Location:2283 → 2364
      Crystall; Beta/Gamma crystallin
      pfam00652
      Location:2548 → 2674
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      cl02528
      Location:2115 → 2157
      Crystall; Beta/Gamma crystallin

    2. XM_047447439.1 → XP_047303395.1  very large A-kinase anchor protein isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      100525753..100648725
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345223.1 → XP_054201198.1  very large A-kinase anchor protein isoform X1

    2. XM_054345224.1 → XP_054201199.1  very large A-kinase anchor protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68DQ2.3 GenPept UniProtKB/Swiss-Prot:Q68DQ2

    Gene LinkOut

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

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