1. Gene
  2. GNGT2 - G protein subunit gamma transducin 2 Gene

GNGT2 - G protein subunit gamma transducin 2 Gene

中文名称:G 蛋白亚基γ转导蛋白 2

种属: Homo sapiens

同用名: GNG9; HG3I; GNGT8; G-GAMMA-8; G-GAMMA-C

基因 ID: 2793 | 基因类型: protein coding

关于 GNGT2

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:49,206,234-49,210,574 (from NCBI)

This gene has 6 transcripts (splice variants), 170 orthologues and 11 paralogues. Broad expression in spleen (RPKM 5.8), lymph node (RPKM 4.5) and 21 other tissues.

功能概要

杆状和锥状光感受器中的光转导受信号蛋白组的调节。编码的蛋白质被认为在视锥细胞光转导中起着至关重要的作用。它属于 G 蛋白伽马家族,专门位于视锥细胞中。已发现该基因的几种转录变体编码相同的蛋白质。[RefSeq 提供,2010 年 11 月]

Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010]

GNGT2 基因产物(4)

mRNA Protein Name
NM_001198754.2 NP_001185683.1 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
NM_001198755.1 NP_001185684.1 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
NM_001198756.1 NP_001185685.1 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
NM_031498.2 NP_113686.1 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase activity IDA
IDA: 通过直接分析推断
10570481 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of heterotrimeric G-protein complex IDA
IDA: 通过直接分析推断
10570481 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

GNGT2 蛋白结构

G-gamma

G-gamma: GGL domain (7 - 68)

  • 0
  • 69 a.a.
蛋白主名 其他名称

guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2

G protein cone gamma 8 subunit

关联疾病

疾病名称 别名
Adenosquamous Lung Carcinoma
Night Blindness, Congenital Stationary, Autosomal Dominant 2

Congenital Stationary Night Blindness Autosomal Dominant 2

CSNBAD2

Hemeralopia

Night Blindness, Congenital Stationary, Rambusch Type

Rambusch Type Congenital Stationary Night Blindness

Congenital Stationary Night Blindness Rambusch Type

Hemeralopia Congenital Essential

Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 2

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

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
Bos taurus GNGT2 VGNC VGNC:29471
Rattus norvegicus GNGT2 RGD RGD:1591007
Mus musculus GNGT2 MGD MGI:893584
Felis catus GNGT2 VGNC VGNC:99069
Canis familiaris GNGT2 VGNC VGNC:41325