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CRYBA2 crystallin beta A2 [ Homo sapiens (human) ]

Gene ID: 1412, updated on 5-Mar-2024

Summary

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Official Symbol
CRYBA2provided by HGNC
Official Full Name
crystallin beta A2provided by HGNC
Primary source
HGNC:HGNC:2395
See related
Ensembl:ENSG00000163499 MIM:600836; AllianceGenome:HGNC:2395
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CTRCT42
Summary
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also defined as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008]
Expression
Biased expression in stomach (RPKM 2.2), adrenal (RPKM 1.3) and 6 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
2q35
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218990190..218993422, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219478565..219481797, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219854912..219858144, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17137 Neighboring gene FEV transcription factor, ETS family member Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219864283-219865266 Neighboring gene Sharpr-MPRA regulatory region 4963 Neighboring gene uncharacterized LOC100129175 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Expression of betaA2-crystallin in human lenses. Lapko VN, et al. Exp Eye Res, 2003 Sep. PMID 12907171
  2. Short-range order of crystallin proteins accounts for eye lens transparency. Delaye M, et al. Nature, 1983 Mar 31-Apr 6. PMID 6835373
  3. Cell stress molecules in the skeletal muscle of GNE myopathy. Fischer C, et al. BMC Neurol, 2013 Mar 12. PMID 23496965, Free PMC Article
  4. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Reis LM, et al. Hum Genet, 2013 Jul. PMID 23508780, Free PMC Article
  5. 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

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.
    Title: A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.
  2. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
    Title: Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
  3. The cell-stress molecules alphaB-crystallin and iNOS are overexpressed in GNE myopathy muscle and may identify early disease mechanisms.
    Title: Cell stress molecules in the skeletal muscle of GNE myopathy.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cataract 42
MedGen: C4011454 OMIM: 115900 GeneReviews: Not available
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EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 GOA

Function Evidence Code Pubs
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables 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
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
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
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
beta-crystallin A2
Names
eye 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.

Genomic

  1. NG_029384.1 RefSeqGene

    Range
    4984..8216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_057093.2 → NP_476434.1  beta-crystallin A2

    See identical proteins and their annotated locations for NP_476434.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' UTR region as compared to variant 1, but encodes the identical protein.
    Source sequence(s)
    AC097468, BC006285
    Consensus CDS
    CCDS2429.1
    UniProtKB/Swiss-Prot
    P53672, Q4ZFX0, Q9Y562
    Related
    ENSP00000295728.2, ENST00000295728.7
    Conserved Domains (1) summary
    pfam00030
    Location:14 → 98
    Crystall; Beta/Gamma crystallin

  2. NM_057094.2 → NP_476435.1  beta-crystallin A2

    See identical proteins and their annotated locations for NP_476435.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a different 5' UTR region when compared to variant 1, and lacks an internal 5' UTR region when compared to variant 2. It encodes a protein identical to that encoded by variants 2 and 3.
    Source sequence(s)
    AC097468
    Consensus CDS
    CCDS2429.1
    UniProtKB/Swiss-Prot
    P53672, Q4ZFX0, Q9Y562
    Related
    ENSP00000375946.2, ENST00000392096.6
    Conserved Domains (1) summary
    pfam00030
    Location:14 → 98
    Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    218990190..218993422 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    219478565..219481797 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P53672.3 GenPept UniProtKB/Swiss-Prot:P53672

Gene LinkOut

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