1. Gene
  2. CRYGC - crystallin gamma C Gene

CRYGC - crystallin gamma C Gene

中文名称:结晶γC

种属: Homo sapiens

同用名: CCL; CRYG3; CTRCT2

基因 ID: 1420 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 β/γ-晶状体蛋白家族的成员。晶状体蛋白构成脊椎动物眼睛晶状体的主要蛋白质,并维持晶状体的透明度和折射率。该基因和几个家族成员存在于 2 号染色体上的一个基因簇中。该基因的突变已被证明会导致多种类型的白内障,包括 Coppock 样白内障和带状粉末性白内障等。[RefSeq 提供,2015 年 1 月]

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 基因产物(1)

mRNA Protein Name
NM_020989.4 NP_066269.1 gamma-crystallin C
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
11700327 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in visual perception IMP
IMP: 通过突变表型推断
12011157 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
16303126 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16303126 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CRYGC 蛋白结构

Crystall

Crystall: Beta/Gamma crystallin (3 - 82)

Crystall

Crystall: Beta/Gamma crystallin (90 - 170)

  • 0
  • 100
  • 174 a.a.
蛋白主名 其他名称

gamma-crystallin C

gamma-crystallin 2-1

CRYGC 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CRYGC P07315 CRYGB Homo sapiens P07316 33961781
种属内
CRYGC P07315 CRYGB Homo sapiens P07316 28514442
种属内
CRYGC P07315 TRIM7 Homo sapiens Q9C029 32296183
种属内
CRYGC P07315 TRIM7 Homo sapiens Q9C029 32296183
种属内
CRYGC P07315 TRIM7 Homo sapiens Q9C029 32296183
种属内
CRYGC P07315 CRYAA Homo sapiens P02489 11700327
种属内
CRYGC P07315 CRYAB Homo sapiens P02511 11700327
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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