Version 5.4
| Homo sapiens Gene: CRYBB2 | |||||||||||||||||||
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| 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
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| Protein Structure |
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| 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 22:25219522-25231869 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q11.23 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| 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 | ||||||||||||||||||