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    Cryba4 crystallin, beta A4 [ Mus musculus (house mouse) ]

    Gene ID: 12959, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Cryba4provided by MGI
    Official Full Name
    crystallin, beta A4provided by MGI
    Primary source
    MGI:MGI:102716
    See related
    Ensembl:ENSMUSG00000066975 AllianceGenome:MGI:102716
    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
    Summary
    This gene encodes a member of the crystallin family of proteins that contribute to the transparency and refractive properties of the ocular lens. Certain mutations in the human ortholog of this gene are associated with cataract and bilateral microphthalmia. This gene is located adjacent to a related crystallin gene on chromosome 5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
    Expression
    Biased expression in genital fat pad adult (RPKM 82.6), adrenal adult (RPKM 22.3) and 2 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 F; 5 54.62 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (112394358..112411411, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (112246492..112263625, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene myocardial infarction associated transcript (non-protein coding) Neighboring gene VISTA enhancer mm1451 Neighboring gene predicted gene, 52821 Neighboring gene crystallin, beta B1 Neighboring gene STARR-positive B cell enhancer ABC_E6365 Neighboring gene STARR-positive B cell enhancer ABC_E6366 Neighboring gene STARR-positive B cell enhancer ABC_E1685 Neighboring gene predicted gene, 46941 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:112714594-112714795 Neighboring gene protein-tyrosine sulfotransferase 2 Neighboring gene STARR-positive B cell enhancer ABC_E3600

    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. Possible association of oestrogen and Cryba4 with masticatory muscle tendon-aponeurosis hyperplasia. Hayashi N, et al. Oral Dis, 2019 Jan. PMID 29683234
    2. Molecular cloning, structure, and chromosomal localization of the mouse LIM/homeobox gene Lhx5. Bertuzzi S, et al. Genomics, 1996 Sep 1. PMID 8812449
    3. Bidirectional Analysis of Cryba4-Crybb1 Nascent Transcription and Nuclear Accumulation of Crybb3 mRNAs in Lens Fibers. Limi S, et al. Invest Ophthalmol Vis Sci, 2019 Jan 2. PMID 30646012, Free PMC Article
    4. Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse. Graw J, et al. Invest Ophthalmol Vis Sci, 2001 Jun. PMID 11381063
    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 (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Oestrogen and Cryba4 may be associated with the progression of masticatory muscle tendon-aponeurosis hyperplasia.
      Title: Possible association of oestrogen and Cryba4 with masticatory muscle tendon-aponeurosis hyperplasia.
    2. The current study shows for the first time that two highly expressed lens crystallin genes, Cryba4 and Crybb1, can be simultaneously transcribed from adjacent bidirectional promoters and do not show nuclear accumulation.
      Title: Bidirectional Analysis of Cryba4-Crybb1 Nascent Transcription and Nuclear Accumulation of Crybb3 mRNAs in Lens Fibers.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    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 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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in camera-type eye development ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    beta-crystallin A4
    Names
    beta-A4 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_001312884.1 → NP_001299813.1  beta-crystallin A4 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AJ272228, AK132591, BC056444
      Consensus CDS
      CCDS84931.1
      UniProtKB/TrEMBL
      E9QAS6, Q3TT40
      Related
      ENSMUSP00000108002.2, ENSMUST00000112383.8
      Conserved Domains (1) summary
      pfam00030
      Location:1 → 84
      Crystall; Beta/Gamma crystallin

    2. NM_021351.2 → NP_067326.1  beta-crystallin A4 isoform 1

      See identical proteins and their annotated locations for NP_067326.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AJ272228, AK132591, BC056444
      Consensus CDS
      CCDS19536.1
      UniProtKB/Swiss-Prot
      Q9JJV0
      UniProtKB/TrEMBL
      Q3TSJ3, Q3V1A0
      Related
      ENSMUSP00000108004.2, ENSMUST00000112385.8
      Conserved Domains (1) summary
      pfam00030
      Location:13 → 97
      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
      112394358..112411411 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006534749.5 → XP_006534812.1  beta-crystallin A4 isoform X1

      UniProtKB/TrEMBL
      Q3TSJ3
      Conserved Domains (2) summary
      smart00247
      Location:135 → 223
      XTALbg; Beta/gamma crystallins
      pfam00030
      Location:42 → 126
      Crystall; Beta/Gamma crystallin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JJV0.3 GenPept UniProtKB/Swiss-Prot:Q9JJV0

    Gene LinkOut

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

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