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CRYBA2 crystallin beta A2 [ Homo sapiens (human) ]

Gene ID: 1412, updated on 8-May-2016
Official Symbol
CRYBA2provided by HGNC
Official Full Name
crystallin beta A2provided by HGNC
Primary source
HGNC:HGNC:2395
See related
Ensembl:ENSG00000163499 HPRD:02905; MIM:600836; Vega:OTTHUMG00000133084
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]
Orthologs
Location:
2q35
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (218990190..218993556, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219854912..219858127, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 608 Neighboring gene FEV, ETS transcription factor Neighboring gene uncharacterized LOC100129175 Neighboring gene microRNA 375 Neighboring gene cilia and flagella associated protein 65

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cataract, floriform
MedGen: C1861830 OMIM: 115900 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
structural constituent of eye lens IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
Preferred Names
beta-crystallin A2
Names
crystallin, beta A2
eye lens structural protein

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
    5001..8216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_057093.1NP_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)
    BC006285
    Consensus CDS
    CCDS2429.1
    UniProtKB/Swiss-Prot
    P53672
    UniProtKB/TrEMBL
    A0A024R429
    Related
    ENSP00000295728, OTTHUMP00000206333, ENST00000295728, OTTHUMT00000336424
    Conserved Domains (1) summary
    pfam00030
    Location:1498
    Crystall; Beta/Gamma crystallin
  2. NM_057094.1NP_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)
    BC006285
    Consensus CDS
    CCDS2429.1
    UniProtKB/Swiss-Prot
    P53672
    UniProtKB/TrEMBL
    A0A024R429
    Related
    ENSP00000375946, OTTHUMP00000164102, ENST00000392096, OTTHUMT00000256729
    Conserved Domains (1) summary
    pfam00030
    Location:1498
    Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    218990190..218993556 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510660.1XP_011508962.1  

    See identical proteins and their annotated locations for XP_011508962.1

    UniProtKB/Swiss-Prot
    P53672
    UniProtKB/TrEMBL
    A0A024R429
    Conserved Domains (1) summary
    pfam00030
    Location:1498
    Crystall; Beta/Gamma crystallin

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    219862369..219865584 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)