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

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

Summary

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
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Genomic context

See Cryba4 in Genome Data Viewer
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

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

Variation

Alleles

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

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 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

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_001312884.1NP_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:184
    Crystall; Beta/Gamma crystallin
  2. NM_021351.2NP_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:1397
    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_006534749.5XP_006534812.1  beta-crystallin A4 isoform X1

    UniProtKB/TrEMBL
    Q3TSJ3
    Conserved Domains (2) summary
    smart00247
    Location:135223
    XTALbg; Beta/gamma crystallins
    pfam00030
    Location:42126
    Crystall; Beta/Gamma crystallin