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    Crygc crystallin, gamma C [ Mus musculus (house mouse) ]

    Gene ID: 12966, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Crygcprovided by MGI
    Official Full Name
    crystallin, gamma Cprovided by MGI
    Primary source
    MGI:MGI:88523
    See related
    Ensembl:ENSMUSG00000025952 AllianceGenome:MGI:88523
    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
    Cryg-5
    Summary
    Predicted to be a structural constituent of eye lens. Acts upstream of or within camera-type eye development. Predicted to be located in cytoplasm and nucleus. Is expressed in eye; ileum; reproductive system; and urogenital sinus. Used to study cataract 2 multiple types. Human ortholog(s) of this gene implicated in cataract and cataract 2 multiple types. Orthologous to human CRYGC (crystallin gamma C). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward genital fat pad adult (RPKM 15.1) See more
    Orthologs
    human all
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    Genomic context

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    See Crygc in Genome Data Viewer
    Location:
    1 C2; 1 32.81 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (65110684..65112691, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (65071525..65073532, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene crystallin, gamma E Neighboring gene STARR-seq mESC enhancer starr_01171 Neighboring gene STARR-seq mESC enhancer starr_01172 Neighboring gene crystallin, gamma D Neighboring gene STARR-seq mESC enhancer starr_01173 Neighboring gene crystallin, gamma B Neighboring gene malic enzyme, supernatant pseudogene

    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. Correction of a genetic disease in mouse via use of CRISPR-Cas9. Wu Y, et al. Cell Stem Cell, 2013 Dec 5. PMID 24315440
    2. Biophysical properties of gammaC-crystallin in human and mouse eye lens: the role of molecular dipoles. Purkiss AG, et al. J Mol Biol, 2007 Sep 7. PMID 17659303, Free PMC Article
    3. A crystallin mutant cataract with mineral deposits. Minogue PJ, et al. J Biol Chem, 2023 Aug. PMID 37331601, Free PMC Article
    4. A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. Graw J, et al. Invest Ophthalmol Vis Sci, 2002 Jan. PMID 11773036
    5. Genomic sequences of murine gamma B- and gamma C-crystallin-encoding genes: promoter analysis and complete evolutionary pattern of mouse, rat and human gamma-crystallins. Graw J, et al. Gene, 1993 Dec 22. PMID 8293998

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. a 1-bp deletion in gammaC-crystallin leads to cataract.
      Title: A 1-bp deletion in the gammaC-crystallin leads to dominant cataracts in mice.
    2. presence of measurable interactions between MIP26 and all crystallins, with the extent of interactions decreasing from alphaA- and alphaB-crystallin to betaB2- and gammaC-crystallin.
      Title: Confocal fluorescence microscopy study of interaction between lens MIP26/AQP0 and crystallins in living cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (other) (2)  1 citation
    • Endonuclease-mediated (1) 
    • Spontaneous (3)  1 citation
    • Targeted (2) 

    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 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
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within 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
    		  
    involved_in visual perception ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    gamma-crystallin C
    Names
    gamma-C-crystallin
    gammaC-crystallin

    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_001082573.2 → NP_001076042.1  gamma-crystallin C isoform 2

      See identical proteins and their annotated locations for NP_001076042.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform 2 which has one additional amino acid compared to isoform 1.
      Source sequence(s)
      CJ066821, CK627566, EF426302
      Consensus CDS
      CCDS35600.1
      UniProtKB/TrEMBL
      A3RLD5
      Related
      ENSMUSP00000109698.2, ENSMUST00000114064.3
      Conserved Domains (2) summary
      smart00247
      Location:3 → 82
      XTALbg; Beta/gamma crystallins
      pfam00030
      Location:90 → 171
      Crystall; Beta/Gamma crystallin

    2. NM_007775.2 → NP_031801.1  gamma-crystallin C isoform 1

      See identical proteins and their annotated locations for NP_031801.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      CJ066821, CK627566, EF426301
      Consensus CDS
      CCDS15012.1
      UniProtKB/Swiss-Prot
      Q03739, Q61597
      UniProtKB/TrEMBL
      A3RLD4
      Related
      ENSMUSP00000027089.9, ENSMUST00000027089.15
      Conserved Domains (2) summary
      smart00247
      Location:3 → 82
      XTALbg; Beta/gamma crystallins
      pfam00030
      Location:89 → 170
      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
      65110684..65112691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q61597.3 GenPept UniProtKB/Swiss-Prot:Q61597

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
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