Version 5.4
| Homo sapiens Gene: CRYBB3 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-2974.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | CRYBB3 | ||||||||||||||||||
| Gene Name | crystallin, beta B3 | ||||||||||||||||||
| Synonyms | CATCN2; CRYB3; CTRCT22 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000100053 | ||||||||||||||||||
| Encoded Proteins |
crystallin, beta B3
crystallin, beta B3
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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-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 22:25199850-25207363 | ||||||||||||||||||
| 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 3 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 | P26998 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 1417 | ||||||||||||||||||
| UniGene | Hs.533022 | ||||||||||||||||||
| RefSeq | NM_004076 | ||||||||||||||||||
| HUGO | HGNC:2400 | ||||||||||||||||||
| OMIM | 123630 | ||||||||||||||||||
| CCDS | CCDS13830 | ||||||||||||||||||
| HPRD | 00431 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | BC069479 BC102021 BC102022 BC107482 CR456427 U71216 X15144 X15145 X15146 Z99916 | ||||||||||||||||||
| GenPept | AAC50972 AAH69479 AAI02022 AAI02023 AAI07483 CAA33242 CAB17042 CAG30313 | ||||||||||||||||||
| RNA Seq Atlas | 1417 | ||||||||||||||||||