CRYGC - crystallin gamma C Gene

Also Known as CCL; CRYG3; CTRCT2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1420

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
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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

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
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others CRYGC NCBI