CRYGB - crystallin gamma B Gene
Also Known as CRYG2; CTRCT39
Species: Homo sapiens
About CRYGB
This gene has 1 transcript (splice variant), 54 orthologues, 14 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.
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. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
CRYGB Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_005210.4 | NP_005201.2 | gamma-crystallin B |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28514442 | GOA |
CRYGB Protein Structure
Crystall: Beta/Gamma crystallin (3 - 82)
Crystall: Beta/Gamma crystallin (90 - 171)
- 0
- 100
- 175 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
gamma-crystallin B |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cataract 39, Multiple Types |
|
|
| Cataract 24 |
|
|
| Early-Onset Lamellar Cataract |
|
|
| Cataract 44 |
|
|
| Cataract |
|
|
| Abruzzo-Erickson Syndrome |
|
|
| Night Blindness, Congenital Stationary, Type 2a |
|
|
| Congenital Aphakia |
|
|
| Nuclear Senile Cataract |
|
|
| Myopathy, Myosin Storage, Autosomal Dominant |
|
|
| Cataract 48 |
|
|
| Deprivation Amblyopia |
|
|
| Presbyopia |
|
|
| Diabetic Cataract |
|
|
| Cataract 18 |
|
|
| Immature Cataract |
|
|
| Senile Cataract |
|
|
| Eye Accommodation Disease |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | CRYGB | VGNC | VGNC:39644 |
| Felis catus | CRYGB | VGNC | VGNC:82527 |
| Bos taurus | CRYGB | VGNC | VGNC:55341 |
| Mus musculus | CRYGB | MGD | MGI:88522 |
| Macaca mulatta | CRYGB | VGNC | VGNC:71507 |
| Rattus norvegicus | CRYGB | RGD | RGD:1584991 |
| Others | CRYGB | NCBI |