Homo sapiens Gene: CRYBB2
Summary
InnateDB Gene IDBG-401988.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CRYBB2
Gene Name crystallin, beta B2
Synonyms CCA2; CRYB2; CRYB2A; CTRCT3; D22S665;
Species Homo sapiens
Ensembl Gene ENSG00000244752
Encoded Proteins
crystallin, beta B2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains 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 considered 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, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:25219522-25231869
Strand Forward strand
Band q11.23
Transcripts
ENST00000398215 ENSP00000381273
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005212 structural constituent of eye lens
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0007601 visual perception
GO:0043010 camera-type eye development
GO:0050896 response to stimulus
Cellular Component
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt P43320
TrEMBL R4UMM2
UniProt Splice Variant
Entrez Gene 1415
UniGene Hs.373074
RefSeq NM_000496 XM_006724141
HUGO HGNC:2398
OMIM 123620
CCDS CCDS13831
HPRD
IMGT
EMBL BC069535 CR456426 KC683809 L10035 U72400 U72401 U72402 U72403 U72404 Z99916
GenPept AAA16864 AAB39700 AAH69535 AGM34047 CAB17043 CAG30312
RNA Seq Atlas 1415