2. Gene
  3. CRYGD - crystallin gamma D Gene

CRYGD - crystallin gamma D Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：晶状体γ D

种属: Homo sapiens

同用名: CCP; PCC; CACA; CCA3; CRYG4; CTRCT4; cry-g-D

基因 ID: 1421 | 基因类型: protein coding

关于 CRYGD

Cytogenetic location: 2q33.3 Genomic coordinates (GRCh38): 2:208,121,607-208,124,524 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 68 orthologues, 14 paralogues and is associated with 9 phenotypes. Biased expression in ovary (RPKM 6.8) and bone marrow (RPKM 0.8).

功能概要

晶状体蛋白分为两类：分类群特异性或酶类，以及普遍存在的。后一类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。由于晶状体中央纤维细胞在发育过程中会失去细胞核，因此会产生这些晶状体蛋白并在整个生命过程中保留下来，从而使它们成为极其稳定的蛋白质。哺乳动物晶状体蛋白分为 alpha、beta 和 gamma 家族； beta 和 γ 晶状体蛋白也被认为是一个超家族。 Alpha 和 Beta 家族进一步分为酸性和碱性组。晶状体蛋白中存在七个蛋白质区域：四个同源基序、一个连接肽以及 N 和 C 末端延伸。 γ-晶状体蛋白是一组同质的高度对称的单体蛋白质，通常缺乏连接肽和末端延伸。它们在早期发育后受到不同的调节。四个伽马晶状体蛋白基因 (伽马-A 到伽马-D) 和三个假基因 (伽马-E、伽马-F、伽马-G) 在基因组片段中串联组织为基因簇。无论是由于衰老还是特定基因的突变，γ-晶状体蛋白都参与了白内障的形成。[RefSeq 提供，2008 年 7 月]

Crystallins are separated into two classes: taxon-specific, or Enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting Peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]

CRYGD 基因产物(1)

mRNA Protein Name
NM_006891.4 NP_008822.2 gamma-crystallin D
基因本体论
  • 分子功能
  • 生物过程
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
8943244 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to reactive oxygen species IDA
IDA: 通过直接分析推断
8943244 GOA
involved in visual perception IMP
IMP: 通过突变表型推断
9927684 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

CRYGD 蛋白结构

Crystall

Crystall: Beta/Gamma crystallin (3 - 82)

Crystall

Crystall: Beta/Gamma crystallin (89 - 170)

  • 0
  • 100
  • 174 a.a.
蛋白主名 其他名称

gamma-crystallin D

gamma crystallin 4

CRYGD 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
种属间
CRYGD P07320 Cryaa Rattus norvegicus P24623
GMS
22289178
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 4, Multiple Types

Cataract 4 Multiple Types

CTRCT4

Cca3

Pcc

Aculeiform Cataract

Cataract 4, Multiple Types, With Or Without Microcornea

Cataract, Crystalline Aculeiform

Caca

Cataract, Congenital, Cerulean Type, 3

Congenital Cataract Cerulean Type 3

Cataract Congenital Dominant Non Nuclear

Ccp

Cataract, Nonnuclear Polymorphic Congenital

Cataract, Punctate, Progressive Juvenile-Onset

Cataract 4 Multiple Types With Or Without Microcornea

Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract

Cataract, Polymorphic Congenital

Congenital Cataract Blue Dot Type 3

Congenital Non-Nuclear Polymorphic Cataract

Crystalline Aculeiform Cataract

Punctate, Progressive Juvenile-Onset, Cataract

Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant
Cataract 29

CTRCT29

Cataract 29, Coralliform

Cataract 29 Coralliform

Coralliform Cataract
Cataract 7

Cca1

CTRCT7

Cerulean Cataract

Cataract 7, Cerulean Type

Cataract, Congenital, Cerulean Type, 1

Cerulean Type Cataract 7

Congenital Cerulean Type Cataract 1

Cataract, Congenital, Blue Dot Type 1

Cataract, Congenital, Cerulean Type 1

Blue-Dot Cataract
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
Nuclear Senile Cataract

Senile Nuclear Cataract

Senile Nuclear Sclerosis
Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract
Carnitine-Acylcarnitine Translocase Deficiency

Cact Deficiency

Carnitine Acylcarnitine Translocase Deficiency

CACTD

Carnitine-Acylcarnitine Carrier Deficiency
Senile Cataract
Nance-Horan Syndrome

NHS

Cataract-Dental Syndrome

Cataract, X-Linked, With Hutchinsonian Teeth

Mesiodens-Cataract Syndrome

Cataract X-Linked With Hutchinsonian Teeth

Cataract Dental Syndrome

Mesiodens Cataract Syndrome
Babesiosis

Babesiasis

Infection By Babesia

Piroplasmosis

Human Babesiosis

Babesia Parasite Infection

Piroplasma Infection
Leukocoria

Leucocoria
Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age
Deprivation Amblyopia

Disuse Amblyopia

Stimulus Deprivation Amblyopia
Amblyopia

Lazy Eye
Lens Disease

Lens Diseases
Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia
Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03215 CRYGD Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CRYGD RGD RGD:2422
Mus musculus CRYGD MGD MGI:88524
Bos taurus CRYGD VGNC VGNC:55342
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