2. Gene
  3. RGS9 - regulator of G protein signaling 9 Gene

RGS9 - regulator of G protein signaling 9 Gene

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

中文名称：G 蛋白信号调节因子 9

种属: Homo sapiens

同用名: PERRS; RGS9L

基因 ID: 8787 | 基因类型: protein coding

关于 RGS9

Cytogenetic location: 17q24.1 Genomic coordinates (GRCh38): 17:65,137,370-65,227,703 (from NCBI)

This gene has 12 transcripts (splice variants), 278 orthologues, 23 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 1.6), lung (RPKM 1.2) and 24 other tissues.

功能概要

该基因编码 GTP 酶激活蛋白 RGS 家族的一个成员，该蛋白通过加速 G 蛋白的失活在各种信号通路中发挥作用。这种蛋白质锚定在视网膜细胞的感光膜上，并使视杆和视锥光转导级联中的 G 蛋白失活。该基因的突变会导致近视。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 9 月]

This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

RGS9 基因产物(3)

mRNA Protein Name
NM_001081955.3 NP_001075424.1 regulator of G-protein signaling 9 isoform 2
NM_001165933.2 NP_001159405.1 regulator of G-protein signaling 9 isoform 3
NM_003835.4 NP_003826.2 regulator of G-protein signaling 9 isoform 1
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
33961781 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

RGS9 蛋白结构

DEP

DEP: Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) (33 - 103)

G-gamma

G-gamma: GGL domain (219 - 283)

RGS

RGS: Regulator of G protein signaling domain (302 - 416)

  • 0
  • 200
  • 400
  • 600
  • 674 a.a.
蛋白主名 其他名称

regulator of G-protein signaling 9

regulator of G-protein signalling 9

RGS9 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
RGS9 O75916 GNB5 Homo sapiens O14775
Anti Tag CoIP
33961781
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
Prolonged Electroretinal Response Suppression

Bradyopsia

PERRS
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
Amelogenesis Imperfecta, Type Ic

Amelogenesis Imperfecta Type 1c

AI1C

Amelogenesis Imperfecta Type Ic

Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive

Amelogenesis Imperfecta, Hypoplastic, With Or Without Open-Bite Malocclusion, Autosomal Recessive

Autosomal Recessive Amelogenesis Imperfecta Hypoplastic With Or Without Openbite Malocclusion

Autosomal Recessive Amelogenesis Imperfecta Local Hypoplastic Type

Amelogenesis Imperfecta 1c

Amelogenesis Imperfecta Hypoplastic With Or Without Openbite Malocclusion Autosomal Recessive

Amelogenesis Imperfecta Local Hypoplastic Type Autosomal Recessive
Abnormality Of Glucagon Secretion

Glucagon Secretion Abnormality

Abnormality Of Secretion Of Glucagon
Lipodystrophy, Familial Partial, Type 6

FPLD6

Lipe-Related Familial Partial Lipodystrophy

Familial Partial Lipodystrophy Type 6

Lipe-Related Fpld

Lipodystrophy, Familial Partial, Associated With Lipe Mutations

Familial Partial Lipodystrophy Associated With Lipe Mutations

Lipodystrophy, Familial Partial, 6
Retinitis Pigmentosa 17

RP17

Retinitis Pigmentosa-17

Retinitis Pigmentosa, Type 17
Cone-Rod Dystrophy 6

CORD6

Retinal Cone Dystrophy 2

Rcd2

Dystrophy, Cone-Rod, Type 6

Retinitis Pigmentosa 6

Progressive Cone Degeneration

Cone 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

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-RS11929 RGS9 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus RGS9 MGD MGI:1338824
Felis catus RGS9 VGNC VGNC:64599
Bos taurus RGS9 VGNC VGNC:33926
Canis familiaris RGS9 VGNC VGNC:45539
Rattus norvegicus RGS9 RGD RGD:3572
Macaca mulatta RGS9 VGNC VGNC:99217
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