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CRYGC - crystallin gamma C Gene

Also Known as CCL; CRYG3; CTRCT2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	11700327	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in visual perception	IMP IMP: Inferred from mutant phenotype	12011157	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
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

0
100
174 a.a.

Protein Preferred Names	Protein Names
gamma-crystallin C	gamma-crystallin 2-1

CRYGC Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	CRYGC	P07315	CRYGB	Homo sapiens	P07316	Anti Tag CoIP	33961781
Intra	CRYGC	P07315	CRYGB	Homo sapiens	P07316	Anti Tag CoIP	28514442
Intra	CRYGC	P07315	TRIM7	Homo sapiens	Q9C029	Y2H Prey Pooling	32296183
Intra	CRYGC	P07315	TRIM7	Homo sapiens	Q9C029	Validated Y2H	32296183
Intra	CRYGC	P07315	TRIM7	Homo sapiens	Q9C029	Y2H Array	32296183
Intra	CRYGC	P07315	CRYAA	Homo sapiens	P02489	CoIP	11700327
Intra	CRYGC	P07315	CRYAB	Homo sapiens	P02511	CoIP	11700327

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS03214	CRYGC Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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