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    Crygs crystallin, gamma S [ Mus musculus (house mouse) ]

    Gene ID: 12970, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Crygsprovided by MGI
    Official Full Name
    crystallin, gamma Sprovided by MGI
    Primary source
    MGI:MGI:1298216
    See related
    Ensembl:ENSMUSG00000033501 AllianceGenome:MGI:1298216
    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
    Opj; rncat
    Summary
    A structural constituent of eye lens. Acts upstream of or within lens development in camera-type eye and morphogenesis of an epithelium. Is expressed in alimentary system; eye; and genitourinary system. Used to study cataract 20 multiple types. Human ortholog(s) of this gene implicated in cataract 20 multiple types. Orthologous to human CRYGS (crystallin gamma S). [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 Crygs in Genome Data Viewer
    Location:
    16 B1; 16 13.66 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (22623953..22630160, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (22805203..22811410, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene diacylglycerol kinase, gamma Neighboring gene STARR-seq mESC enhancer starr_40416 Neighboring gene STARR-positive B cell enhancer mm9_chr16:22633282-22633583 Neighboring gene microRNA 6362 Neighboring gene STARR-seq mESC enhancer starr_40417 Neighboring gene STARR-positive B cell enhancer ABC_E5532 Neighboring gene ribosomal protein SA pseudogene Neighboring gene predicted gene, 30416 Neighboring gene TBCC domain containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E484 Neighboring gene DnaJ heat shock protein family (Hsp40) member B11 Neighboring gene predicted gene, 30505

    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. Alterations to proteins in the lens of hereditary Crygs-mutated cataractous mice. Ji Y, et al. Mol Vis, 2010 Jun 11. PMID 20596256, Free PMC Article
    2. Solution structure of (gamma)S-crystallin by molecular fragment replacement NMR. Wu Z, et al. Protein Sci, 2005 Dec. PMID 16260758, Free PMC Article
    3. A temperature-sensitive mutation of Crygs in the murine Opj cataract. Sinha D, et al. J Biol Chem, 2001 Mar 23. PMID 11121426
    4. A role for γS-crystallin in the organization of actin and fiber cell maturation in the mouse lens. Fan J, et al. FEBS J, 2012 Aug. PMID 22715935, Free PMC Article
    5. The gamma S-crystallin gene is mutated in autosomal recessive cataract in mouse. Bu L, et al. Genomics, 2002 Jul. PMID 12079281

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. gammaS may have a functional role related to actin, perhaps in 'shepherding' filaments to maintain the optical properties of the lens cytoplasm and normal fiber cell maturation
      Title: A role for γS-crystallin in the organization of actin and fiber cell maturation in the mouse lens.
    2. Mutant Crygs gene can lead to changes of BFSP/filensin and other crystallins. Changes to these crystallins, together, may secondarily lead to cataract formation.
      Title: Alterations to proteins in the lens of hereditary Crygs-mutated cataractous mice.
    3. gammaS consists of two topologically similar domains, arranged with an approximate twofold symmetry, and each domain shows close structural homology to closely related domains found in other members of the gamma-crystallin family.
      Title: Solution structure of (gamma)S-crystallin by molecular fragment replacement NMR.
    4. disruption of the Hsf4 gene leads to cataracts via at least three pathways: down-regulation of gamma-crystallin, particularly gamma S-crystallin; decreased lens beaded filament expression; and loss of post-translational modification of alpha A-crystallin
      Title: Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression.
    5. mutation causes autosomal recessive cataracts; likely to be involved in epithelial cell proliferation, apoptosis, and migration
      Title: The gamma S-crystallin gene is mutated in autosomal recessive cataract in mouse.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 IMP
    Inferred from Mutant Phenotype
    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 
    acts_upstream_of_or_within morphogenesis of an epithelium 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
    gamma-crystallin S
    Names
    beta-crystallin S
    opacity due to poor secondary fiber cell junction
    recessive nuclear cataract

    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_009967.2 → NP_034097.1  gamma-crystallin S

      See identical proteins and their annotated locations for NP_034097.1

      Status: VALIDATED

      Source sequence(s)
      AK143060, CT571248
      Consensus CDS
      CCDS28069.1
      UniProtKB/Swiss-Prot
      O35486
      UniProtKB/TrEMBL
      Q3UPY3
      Related
      ENSMUSP00000043588.5, ENSMUST00000040592.6
      Conserved Domains (2) summary
      smart00247
      Location:7 → 84
      XTALbg; Beta/gamma crystallins
      pfam00030
      Location:95 → 176
      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_000082.7 Reference GRCm39 C57BL/6J

      Range
      22623953..22630160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006521755.2 → XP_006521818.1  gamma-crystallin S isoform X1

      Conserved Domains (2) summary
      pfam00030
      Location:37 → 118
      Crystall; Beta/Gamma crystallin
      cl02528
      Location:1 → 26
      Crystall; Beta/Gamma crystallin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O35486.3 GenPept UniProtKB/Swiss-Prot:O35486

    Gene LinkOut

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

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