1. Gene
  2. CRYGS - crystallin gamma S Gene

CRYGS - crystallin gamma S Gene

中文名称:结晶γS

种属: Homo sapiens

同用名: CRYG8; CTRCT20

基因 ID: 1427 | 基因类型: protein coding

关于 CRYGS

Cytogenetic location: 3q27.3 Genomic coordinates (GRCh38): 3:186,538,443-186,544,380 (from NCBI)

This gene has 3 transcripts (splice variants), 218 orthologues, 14 paralogues and is associated with 4 phenotypes. Ubiquitous expression in spleen (RPKM 1.8), skin (RPKM 1.8) and 25 other tissues.

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。该基因编码的蛋白质最初被认为是β-晶状体蛋白,但编码的蛋白质是单体的,与其他γ-晶状体蛋白具有更大的序列相似性。该基因编码成人眼睛晶状体组织中最重要的γ-晶状体蛋白。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. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to Other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]

CRYGS 基因产物(1)

mRNA Protein Name
NM_017541.4 NP_060011.1 gamma-crystallin S
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
24183572 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

CRYGS 蛋白结构

Crystall

Crystall: Beta/Gamma crystallin (7 - 86)

Crystall

Crystall: Beta/Gamma crystallin (95 - 176)

  • 0
  • 100
  • 178 a.a.
蛋白主名 其他名称

gamma-crystallin S

beta-crystallin S

关联疾病

疾病名称 别名
Cataract 20, Multiple Types

CTRCT20

Cataract 20 Multiple Types

Early-Onset Sutural Cataract

Early-Onset Cataract With Y-Shaped Suture Opacities

Early-Onset Lamellar 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

Morgagni Cataract

Hypermature Cataract

Morgagnian Cataract

Eye Accommodation Disease
Deprivation Amblyopia

Disuse Amblyopia

Stimulus Deprivation Amblyopia

Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age

Immature Cataract

Incipient Cataract

Incipient Senile Cataract

Water Clefts

Senile Cataract
Lens Disease

Lens Diseases

Axenfeld-Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome Type 3

RIEG3

Anterior Chamber Cleavage Syndrome

Anterior Segment Mesenchymal Dysgenesis

Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss

Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss

Rieger Syndrome Type 3

Axenfeld-Rieger Anomaly

Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome 3

Axenfeld Anomaly

Rieger Anomaly

Rieger Syndrome

Rieger Eye Malformation Sequence

Diabetic Cataract

Cataract - Diabetic

Galactosemia Ii

Galactokinase Deficiency

Galk Deficiency

Galactokinase Deficiency With Cataracts

Deficiency Of Galactokinase

GALAC2

Galk-D

Galactokinase Deficiency Galactosemia

Galactosemia 2

Galactosemia Type 2

Hereditary Galactokinase Deficiency

Galactokinase Deficiency, Cataract

Galactosemias

Galk - [Galactokinase Deficiency]

Posterior Polar Cataract

Cataract, Posterior Polar

Amblyopia

Lazy Eye

Retinal Perforation

Retinal Break

Retinal Perforations

Retinal Dialysis

Retinal Tear

Retinal Break Nos

Ruptured Retina

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

Persistent Hyperplastic Primary Vitreous

Congenital Retinal Detachment

Ncrna Disease

Non-Syndromic Congenital Retinal Non-Attachment

Pfvs

Phpv

Persistent Fetal Vasculature Syndrome

Coloboma Of Optic Nerve

Morning Glory Disc Anomaly

Coloboma Of Optic Disc

Morning Glory Syndrome

Ectasic Coloboma

Coloboma Of Optic Papilla

Congenital Coloboma Of The Optic Nerve

Optic Nerve Coloboma

Optic Nerve Head Pits, Bilateral Congenital

Volubilis Syndrome

COLON

Coloboma Of Optic Disc, Unspecified Eye

Congenital Coloboma Of Optic Disc

Optic Disk Coloboma

Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence

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

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Canis familiaris CRYGS VGNC VGNC:39646
Rattus norvegicus CRYGS RGD RGD:1587483
Macaca mulatta CRYGS VGNC VGNC:84196
Mus musculus CRYGS MGD MGI:1298216
Bos taurus CRYGS VGNC VGNC:27743
Felis catus CRYGS VGNC VGNC:61207