CRYGC - crystallin gamma C Gene
Also Known as CCL; CRYG3; CTRCT2
Species: Homo sapiens
About CRYGC
This gene has 1 transcript (splice variant), 1 gene allele, 95 orthologues, 14 paralogues and is associated with 6 phenotypes. Low expression observed in reference dataset.
Summary
This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among Others. [provided by RefSeq, Jan 2015]
CRYGC Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_020989.4 | NP_066269.1 | gamma-crystallin C |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11700327 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in visual perception |
IMP
IMP: Inferred from mutant phenotype
|
12011157 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
16303126 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
16303126 | GOA |
CRYGC Protein Structure
Crystall: Beta/Gamma crystallin (3 - 82)
Crystall: Beta/Gamma crystallin (90 - 170)
- 0
- 100
- 174 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
gamma-crystallin C |
|
CRYGC Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CRYGC | P07315 | CRYGB | Homo sapiens | P07316 | 33961781 | |
|
Intra
|
CRYGC | P07315 | CRYGB | Homo sapiens | P07316 | 28514442 | |
|
Intra
|
CRYGC | P07315 | TRIM7 | Homo sapiens | Q9C029 | 32296183 | |
|
Intra
|
CRYGC | P07315 | TRIM7 | Homo sapiens | Q9C029 | 32296183 | |
|
Intra
|
CRYGC | P07315 | TRIM7 | Homo sapiens | Q9C029 | 32296183 | |
|
Intra
|
CRYGC | P07315 | CRYAA | Homo sapiens | P02489 | 11700327 | |
|
Intra
|
CRYGC | P07315 | CRYAB | Homo sapiens | P02511 | 11700327 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cataract 2, Multiple Types |
|
|
| Cataract 30, Multiple Types |
|
|
| Cataract Microcornea Syndrome |
|
|
| Early-Onset Lamellar Cataract |
|
|
| Early-Onset Nuclear Cataract |
|
|
| Cataract |
|
|
| Zebrafish Allergy |
|
|
| Pontocerebellar Hypoplasia, Type 14 |
|
|
| Shipyard Eye |
|
|
| Monkeypox |
|
|
| Colorectal Adenocarcinoma |
|
|
| Arthrogryposis, Distal, Type 2b3 |
|
|
| Bone Osteosarcoma |
|
|
| Colorectal Cancer |
|
|
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
|
| Gastric Hemangioma |
|
|
| Breast Adenocarcinoma |
|
|
| Osebold-Remondini Syndrome |
|
|
| Bladder Clear Cell Adenocarcinoma |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | CRYGC | VGNC | VGNC:27741 |
| Canis familiaris | CRYGC | VGNC | VGNC:57380 |
| Mus musculus | CRYGC | MGD | MGI:88523 |
| Rattus norvegicus | CRYGC | RGD | RGD:2421 |
| Others | CRYGC | NCBI |