2. Gene
  3. CRYGB - crystallin gamma B Gene

CRYGB - crystallin gamma B Gene

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

中文名称：晶状体γB

种属: Homo sapiens

同用名: CRYG2; CTRCT39

基因 ID: 1419 | 基因类型: protein coding

关于 CRYGB

Cytogenetic location: 2q33.3 Genomic coordinates (GRCh38): 2:208,142,573-208,146,158 (from NCBI)

This gene has 1 transcript (splice variant), 54 orthologues, 14 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

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]

CRYGB 基因产物(1)

mRNA Protein Name
NM_005210.4 NP_005201.2 gamma-crystallin B
基因本体论
  • 分子功能
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
28514442 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

CRYGB 蛋白结构

Crystall

Crystall: Beta/Gamma crystallin (3 - 82)

Crystall

Crystall: Beta/Gamma crystallin (90 - 171)

  • 0
  • 100
  • 175 a.a.
蛋白主名 其他名称

gamma-crystallin B

crystallin, gamma 1-2

关联疾病

疾病名称 别名
Cataract 39, Multiple Types

CTRCT39

Cataract 39 Multiple Types

Cataract 39, Multiple Types, Autosomal Dominant

Autosomal Dominant Cataract 39 Multiple Types

Cataract, Type 39, Multiple Types
Cataract 24

CTRCT24

Cataract 24, Anterior Polar

Cataract, Anterior Polar, 2

Ctaa2

Anterior Polar Cataract 2

Early-Onset Anterior Polar Cataract

Early-Onset Anterior Subcapsular Cataract

Anterior Polar Cataract 24

Cataract Anterior Polar

Cataract, Anterior Polar-2

Cataract, Anterior Polar
Early-Onset Lamellar Cataract
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Abruzzo-Erickson Syndrome

Abruzzo Erickson Syndrome

ABERS

Charge-Like Syndrome, X-Linked

Cleft Palate-Coloboma-Deafness Syndrome

Charge Like Syndrome X-Linked

Charge-Like Syndrome

Cleft Palate-Coloboma-Hearing Loss Syndrome

X-Linked Charge-Like Syndrome
Night Blindness, Congenital Stationary, Type 2a

Congenital Stationary Night Blindness 2a

CSNB2A

Csnb2

Csnb, Incomplete, X-Linked

Night Blindness, Congenital Stationary, Type 2

Night Blindness, Congenital Stationary , 2a, X-Linked

Congenital Stationary Night Blindness 2a X-Linked

Night Blindness, Congenital Stationary, 2a

Congenital Stationary Night Blindness Type 2

Incomplete X-Linked Csnb

Night Blindness, Congenital Stationary, X-Linked, Type 2a

Blindness, Night, Stationary, Congenital, Type 2a
Congenital Aphakia

Congenital Absence Of Lens

Aphakia, Congenital Primary

Agenesis Of Lens
Nuclear Senile Cataract

Senile Nuclear Cataract

Senile Nuclear Sclerosis
Myopathy, Myosin Storage, Autosomal Dominant

MSMA

Myopathy, Hyaline Body, Autosomal Dominant

Myopathy With Lysis Of Type I Myofibrils

Autosomal Dominant Hyaline Body Myopathy

Hyaline Body Myopathy Autosomal Dominant
Cataract 48

CTRCT48
Deprivation Amblyopia

Disuse Amblyopia

Stimulus Deprivation Amblyopia
Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age
Diabetic Cataract

Cataract - Diabetic
Cataract 18

Cataract, Autosomal Recessive Congenital 2

Catc2

CTRCT18

Autosomal Recessive Congenital Cataract 2

Cataract 18, Autosomal Recessive

Cataract 18 Autosomal Recessive

Cataract, Type 18
Immature Cataract

Incipient Cataract

Incipient Senile Cataract

Water Clefts
Senile Cataract
Eye Accommodation Disease
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-RS03213 CRYGB Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CRYGB VGNC VGNC:39644
Felis catus CRYGB VGNC VGNC:82527
Bos taurus CRYGB VGNC VGNC:55341
Mus musculus CRYGB MGD MGI:88522
Macaca mulatta CRYGB VGNC VGNC:71507
Rattus norvegicus CRYGB RGD RGD:1584991
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