1. Gene
  2. CRYGC - crystallin gamma C Gene

CRYGC - crystallin gamma C Gene

Homo sapiens

Also known as CCL; CRYG3; CTRCT2

Gene ID: 1420 | Gene type: protein coding

About CRYGC

Cytogenetic location: 2q33.3 Genomic coordinates (GRCh38): 2:208,128,137-208,129,828 (from NCBI)

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

CRYGC Protein Structure

Crystall

Crystall: Beta/Gamma crystallin (3 - 82)

Crystall

Crystall: Beta/Gamma crystallin (90 - 170)

  • 0
  • 100
  • 174 a.a.
Protein Preferred Names Protein Names

gamma-crystallin C

gamma-crystallin 2-1

Related Diseases

Diseases Alias
Cataract 2, Multiple Types

CTRCT2

Cataract, Coppock-Like

Cataract 2, Multiple Types, With Or Without Microcornea

Ccl

Cataract 2 Multiple Types

Cataract 2 Multiple Types With Or Without Microcornea

Cataract Coppock-Like

Cataract Embryonic Nuclear

Variable Zonular Pulverulent Cataract

Cataract, Variable Zonular Pulverulent

Cataract 30, Multiple Types

CTRCT30

Cataract 30, Pulverulent

Pulverulent Cataract

Coppock-Like Cataract

Dusty Cataract

Pulverulent Cataract 30

Cataract 30

Cataract, Pulverulent

Cataract Microcornea Syndrome

Microcornea Cataract Syndrome

Cataract-Microcornea Syndrome

Early-Onset Lamellar Cataract
Early-Onset Nuclear Cataract
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Zebrafish Allergy

Danio Rerio Allergy

Pontocerebellar Hypoplasia, Type 14

PCH14

Pontocerebellar Hypoplasia Type 14

Pontocerebellar Hypoplasia 14

Doid:0112325

Shipyard Eye

Epidemic Keratoconjunctivitis

Ekc

Monkeypox

Monkeypox Virus Infections

Colorectal Adenocarcinoma

Adenocarcinoma Of Large Intestine

Arthrogryposis, Distal, Type 2b3

DA2B3

Distal Arthrogryposis Type 2b3

Arthrogryposis, Distal, 2b3

Bone Osteosarcoma

Osteosarcoma Of Bone

Primary Osteosarcoma Of Bone

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Polyposis Syndrome, Hereditary Mixed, 2

HMPS2

Hereditary Mixed Polyposis Syndrome 2

Polyposis Syndrome, Mixed Hereditary 2

Polyposis Syndrome, Hereditary Mixed, Type 2

Gastric Hemangioma

Hemangioma Of Stomach

Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

Osebold-Remondini Syndrome

Brachydactyly Type A6

Brachymesophalangy With Mesomelic Short Limbs And Carpal And Tarsal Osseous Abnormalities

Bda6

Brachydactyly, Type A6

Bladder Clear Cell Adenocarcinoma

Bladder Mesonephric Adenocarcinoma

Clear Cell Adenocarcinoma Of Bladder

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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