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    Crybb2 crystallin, beta B2 [ Mus musculus (house mouse) ]

    Gene ID: 12961, updated on 9-Dec-2024

    Summary

    Official Symbol
    Crybb2provided by MGI
    Official Full Name
    crystallin, beta B2provided by MGI
    Primary source
    MGI:MGI:88519
    See related
    Ensembl:ENSMUSG00000042240 AllianceGenome:MGI:88519
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cryb-2
    Summary
    This gene is a member of the beta-crystallin family. Beta crystallins, along with alpha and gamma crystallins, are the major proteins found in the eye lens. These proteins maintain the refractive index of the lens whilst also maintaining its transparency. Since lens central fiber cells lose their nuclei during development, crystallins are made and then retained throughout life, making them extremely stable proteins. Beta and gamma crystallins are considered be a superfamily and have a similar domain architecture, including four Greek Key motifs. Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. The protein encoded by this gene may have Ca2+-binding activity and could be associated with potential functions in the hippocampus and in sperm. Targeted knockout of this gene in mouse induces age-related cataract. A chain-terminating mutation in a similar gene in human was found to cause type 2 cerulean cataracts. [provided by RefSeq, Feb 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Crybb2 in Genome Data Viewer
    Location:
    5 F; 5 55.38 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (113206124..113217983, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (113058258..113070117, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor kinase 3 Neighboring gene predicted gene, 22740 Neighboring gene predicted gene 43247 Neighboring gene RIKEN cDNA 2900026A02 gene Neighboring gene crystallin, beta B3 Neighboring gene RIKEN cDNA 4833439F03 gene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Philly cataract
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (2)  1 citation
    • Endonuclease-mediated (1) 
    • Spontaneous (2)  1 citation
    • Targeted (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables structural constituent of eye lens IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural constituent of eye lens IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
     
    acts_upstream_of_or_within visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    beta-crystallin B2
    Names
    beta-crystallin Bp

    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.

    mRNA and Protein(s)

    1. NM_007773.4NP_031799.1  beta-crystallin B2

      See identical proteins and their annotated locations for NP_031799.1

      Status: REVIEWED

      Source sequence(s)
      BC085185
      Consensus CDS
      CCDS19546.1
      UniProtKB/Swiss-Prot
      P62696, Q0VGT6
      Related
      ENSMUSP00000107955.2, ENSMUST00000112336.8
      Conserved Domains (2) summary
      smart00247
      Location:18100
      XTALbg; Beta/gamma crystallins
      pfam00030
      Location:108190
      Crystall; Beta/Gamma crystallin

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      113206124..113217983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017320652.1XP_017176141.1  beta-crystallin B2 isoform X2

      UniProtKB/Swiss-Prot
      P62696, Q0VGT6
      Conserved Domains (2) summary
      smart00247
      Location:18100
      XTALbg; Beta/gamma crystallins
      pfam00030
      Location:108190
      Crystall; Beta/Gamma crystallin
    2. XM_006534760.2XP_006534823.2  beta-crystallin B2 isoform X1

      Conserved Domains (1) summary
      pfam00030
      Location:175257
      Crystall; Beta/Gamma crystallin
    3. XM_006534759.1XP_006534822.1  beta-crystallin B2 isoform X2

      See identical proteins and their annotated locations for XP_006534822.1

      UniProtKB/Swiss-Prot
      P62696, Q0VGT6
      Related
      ENSMUSP00000031295.8, ENSMUST00000031295.8
      Conserved Domains (2) summary
      smart00247
      Location:18100
      XTALbg; Beta/gamma crystallins
      pfam00030
      Location:108190
      Crystall; Beta/Gamma crystallin