RGS9 - regulator of G protein signaling 9 Gene

Homo sapiens

Also known as PERRS; RGS9L

Gene ID: 8787 | Gene type: protein coding

About 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.

Summary

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 Products(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

RGS9 Protein Structure

DEP

G-gamma

RGS

0
200
400
600
674 a.a.

Protein Preferred Names

Protein Names

regulator of G-protein signaling 9

regulator of G-protein signalling 9

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11929	RGS9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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