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    CRYGB crystallin gamma B [ Homo sapiens (human) ]

    Gene ID: 1419, updated on 3-Apr-2024

    Summary

    Official Symbol
    CRYGBprovided by HGNC
    Official Full Name
    crystallin gamma Bprovided by HGNC
    Primary source
    HGNC:HGNC:2409
    See related
    Ensembl:ENSG00000182187 MIM:123670; AllianceGenome:HGNC:2409
    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
    CRYG2; CTRCT39
    Summary
    Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CRYGB in Genome Data Viewer
    Location:
    2q33.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (208142573..208146158, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (208622590..208626302, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (209007297..209010882, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:208996508-208997008 Neighboring gene crystallin gamma C Neighboring gene replication factor C subunit 2 pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:209007684-209008466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:209010074-209010697 Neighboring gene crystallin gamma A Neighboring gene chromosome 2 open reading frame 80

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural constituent of eye lens IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural constituent of eye lens NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in lens development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lens fiber cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in visual perception NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    gamma-crystallin B
    Names
    crystallin, gamma 1-2

    NCBI Reference Sequences (RefSeq)

    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_028158.1 RefSeqGene

      Range
      4996..8581
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005210.4NP_005201.2  gamma-crystallin B

      See identical proteins and their annotated locations for NP_005201.2

      Status: REVIEWED

      Source sequence(s)
      AC016697, BM666147, BY794984
      Consensus CDS
      CCDS2380.1
      UniProtKB/Swiss-Prot
      P07316, Q17RB5, Q53ST2
      UniProtKB/TrEMBL
      A0A0U3BWM0
      Related
      ENSP00000260988.4, ENST00000260988.5
      Conserved Domains (2) summary
      smart00247
      Location:382
      XTALbg; Beta/gamma crystallins
      pfam00030
      Location:90171
      Crystall; Beta/Gamma crystallin

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      208142573..208146158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003402.2XP_016858891.1  gamma-crystallin B isoform X1

      UniProtKB/TrEMBL
      A0A0U3BWM0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      208622590..208626302 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340639.1XP_054196614.1  gamma-crystallin B isoform X1