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    Cryba2 crystallin, beta A2 [ Mus musculus (house mouse) ]

    Gene ID: 12958, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cryba2provided by MGI
    Official Full Name
    crystallin, beta A2provided by MGI
    Primary source
    MGI:MGI:104336
    See related
    Ensembl:ENSMUSG00000006546 AllianceGenome:MGI:104336
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    E130107M19Rik
    Summary
    Enables identical protein binding activity. Acts upstream of or within lens development in camera-type eye. Is expressed in brain; eye; gut gland; and pancreas primordium. Human ortholog(s) of this gene implicated in cataract 42. Orthologous to human CRYBA2 (crystallin beta A2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    See Cryba2 in Genome Data Viewer
    Location:
    1 C4; 1 38.54 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (74929093..74938001, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (74889934..74898842, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene 16582 Neighboring gene cyclin dependent kinase 5, regulatory subunit 2 Neighboring gene FEV transcription factor, ETS family member Neighboring gene microRNA 375 Neighboring gene cilia and flagella associated protein 65

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. First mutation in the βA2-crystallin encoding gene is associated with small lenses and age-related cataracts. Puk O, et al. Invest Ophthalmol Vis Sci, 2011 Apr 20. PMID 21212184
    2. Imbalances in the eye lens proteome are linked to cataract formation. Schmid PWN, et al. Nat Struct Mol Biol, 2021 Feb. PMID 33432246
    3. Identification of the human beta A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1. Hulsebos TJ, et al. Genomics, 1995 Aug 10. PMID 7490092
    4. The beta crystallin genes on human chromosome 22 define a new region of homology with mouse chromosome 5. Hulsebos TJ, et al. Genomics, 1995 Jan 20. PMID 7789995
    5. Overlapping effects of different members of the FGF family on lens fiber differentiation in transgenic mice. Lovicu FJ, et al. Development, 1998 Sep. PMID 9693140

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These findings demonstrate the first mutation in the Cryba2 gene
      Title: First mutation in the βA2-crystallin encoding gene is associated with small lenses and age-related cataracts.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1)  1 citation
    • Endonuclease-mediated (4) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical 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
    		  
    enables structural constituent of eye lens TAS
    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
    		  
    acts_upstream_of_or_within lens development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    beta-crystallin A2
    Names
    beta-A2 crystallin
    betaA2-crystallin
    lens structural protein

    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_001431816.1 → NP_001418745.1  beta-crystallin A2

      Status: VALIDATED

      Source sequence(s)
      AC139023
      UniProtKB/Swiss-Prot
      Q540J7, Q9JJV1

    2. NM_021541.4 → NP_067516.1  beta-crystallin A2

      Status: VALIDATED

      Source sequence(s)
      AC139023
      Consensus CDS
      CCDS15059.1
      UniProtKB/Swiss-Prot
      Q540J7, Q9JJV1
      Related
      ENSMUSP00000006721.3, ENSMUST00000006721.3
      Conserved Domains (1) summary
      pfam00030
      Location:14 → 98
      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_000067.7 Reference GRCm39 C57BL/6J

      Range
      74929093..74938001 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006495656.3 → XP_006495719.1  beta-crystallin A2 isoform X1

      Conserved Domains (1) summary
      pfam00030
      Location:14 → 98
      Crystall; Beta/Gamma crystallin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JJV1.3 GenPept UniProtKB/Swiss-Prot:Q9JJV1

    Gene LinkOut

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

    Chemical Information
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