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RGS9 - regulator of G protein signaling 9 Gene

Also Known as PERRS; RGS9L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8787

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

RGS9 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RGS9	O75916	GNB5	Homo sapiens	O14775	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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