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    CRYBB3 crystallin beta B3 [ Homo sapiens (human) ]

    Gene ID: 1417, updated on 1-Mar-2024

    Summary

    Official Symbol
    CRYBB3provided by HGNC
    Official Full Name
    crystallin beta B3provided by HGNC
    Primary source
    HGNC:HGNC:2400
    See related
    Ensembl:ENSG00000100053 MIM:123630; AllianceGenome:HGNC:2400
    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
    CRYB3; CATCN2; CTRCT22
    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. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CRYBB3 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (25199858..25207359)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25661043..25668545)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (25595825..25603326)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene KIAA1671 Neighboring gene KIAA1671 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25506614-25507476 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25507477-25508338 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63138 Neighboring gene Sharpr-MPRA regulatory region 2564 Neighboring gene Sharpr-MPRA regulatory region 1539 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63172 Neighboring gene STMN3 pseudogene 1 Neighboring gene crystallin beta B2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:25673044-25673734 Neighboring gene uncharacterized LOC105372969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25677730-25678664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25678665-25679597

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC125772, MGC125773, MGC125774

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein 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
     

    General protein information

    Preferred Names
    beta-crystallin B3
    Names
    eye lens structural protein

    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_009828.1 RefSeqGene

      Range
      5001..12502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004076.5NP_004067.1  beta-crystallin B3

      See identical proteins and their annotated locations for NP_004067.1

      Status: REVIEWED

      Source sequence(s)
      BC102021, BF726163, BM711382
      Consensus CDS
      CCDS13830.1
      UniProtKB/Swiss-Prot
      P26998, Q3B7S9, Q3T1B7, Q6ISK6, Q92965, Q9UH09
      Related
      ENSP00000215855.2, ENST00000215855.7
      Conserved Domains (1) summary
      pfam00030
      Location:115197
      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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      25199858..25207359
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441147.1XP_047297103.1  beta-crystallin B3 isoform X1

      UniProtKB/Swiss-Prot
      P26998, Q3B7S9, Q3T1B7, Q6ISK6, Q92965, Q9UH09

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      25661043..25668545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)