RGS9 regulator of G protein signaling 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RGS9provided by HGNC
Official Full Name: regulator of G protein signaling 9provided by HGNC
Primary source: HGNC:HGNC:10004
See related: Ensembl:ENSG00000108370 MIM:604067; AllianceGenome:HGNC:10004
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PERRS; RGS9L; PERRS1
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]
Expression: Ubiquitous expression in brain (RPKM 1.6), lung (RPKM 1.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q24.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (65137370..65227703)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (66007344..66097756)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (63133488..63223821)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This case series highlights the clinical presentations and features of 5 affected children (3 Arab families) who harbored the same homozygous RGS9 frameshift mutation, which seems to represent a founder effect for the Arabian Peninsula.
Title: The clinical presentation of bradyopsia in children.
To identify single-nucleotide polymorphisms that contribute to the genetic susceptibility to schizophrenia, we examined the potential association between schizophrenia and 9 single nucleotide polymorphisms in the G-protein signaling 9 gene
Title: Regulators of G-protein signaling 9 genetic variations in Chinese subjects with schizophrenia.
These findings indicate a role for RGS9 gene polymorphisms in heroin dependence and may be informative for future genetic or biological studies on heroin dependence.
Title: Evidence for the contribution of genetic variations in regulator of G protein signaling 9 to the genetic susceptibility of heroin dependence.
the GAP activity of RGS9-2 showed a strong receptor preference for D2R over MOR. Finally, RGS7 displayed an four times greater GAP activity relative to RGS9-2.
Title: Macromolecular composition dictates receptor and G protein selectivity of regulator of G protein signaling (RGS) 7 and 9-2 protein complexes in living cells.
These studies with humans, rats and mice implicate RGS9-2 as a factor in regulating body weight.
Title: Association between regulator of G protein signaling 9-2 and body weight.
beta-Arrestin2 is required for the inhibition of D3R signaling by RGS9-2.
Title: β-arrestin2 plays permissive roles in the inhibitory activities of RGS9-2 on G protein-coupled receptors by maintaining RGS9-2 in the open conformation.
Type 5 G protein beta subunit (Gbeta5) controls the interaction of regulator of G protein signaling 9 (RGS9) with membrane anchors
Title: Type 5 G protein beta subunit (Gbeta5) controls the interaction of regulator of G protein signaling 9 (RGS9) with membrane anchors.
The main goal of this review is to illustrate how various functions are fulfilled through the interplay between the intrinsic molecular properties of RGS9 isoforms.
Title: Biology and functions of the RGS9 isoforms.
The expression of RGS9-2 inhibits dopamine-mediated cellular internalization of the dopamine 2 (D2) receptor.
Title: RGS9-2 mediates specific inhibition of agonist-induced internalization of D2-dopamine receptors.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variations in regulator of G-protein signaling genes as susceptibility loci for second primary tumor/recurrence in head and neck squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Prolonged electroretinal response suppression 1 MedGen: C5829874 OMIM: 608415 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH99108 (e-PCR)
- UniSTS:86590

RH124037 (e-PCR)
- UniSTS:134550

D17S1695 (e-PCR)
- UniSTS:31660

NoName (e-PCR)
- UniSTS:484340

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
involved_in dark adaptation	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in light adaption	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of signal transduction	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in regulation of G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of calcium ion export across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: regulator of G-protein signaling 9

Names: regulator of G-protein signalling 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013021.2 RefSeqGene

Range

5033..95366

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001081955.3 → NP_001075424.1 regulator of G-protein signaling 9 isoform 2

See identical proteins and their annotated locations for NP_001075424.1

Status: REVIEWED

Source sequence(s)

AK290535, CK300804, DC322215

Consensus CDS

CCDS45764.1

UniProtKB/TrEMBL

A8K1G1

Related

ENSP00000396329.3, ENST00000449996.7

Conserved Domains (3) summary

smart00224
Location:221 → 280

GGL; G protein gamma subunit-like motifs

cd08739
Location:292 → 412

RGS_RGS9; Regulator of G protein signaling (RGS) domain found in the RGS9 protein

cd04450
Location:22 → 109

DEP_RGS7-like; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in RGS (regulator of G-protein signaling) proteins of the subfamily R7. This subgroup contains RGS7, RGS6, RGS9 and RGS11. They share a common domain architecture, containing, beside the RGS domain, ...
NM_001165933.2 → NP_001159405.1 regulator of G-protein signaling 9 isoform 3

See identical proteins and their annotated locations for NP_001159405.1

Status: REVIEWED

Source sequence(s)

AC015821, AC060771

UniProtKB/TrEMBL

J3QL70

Related

ENSP00000463410.1, ENST00000584234.5

Conserved Domains (3) summary

smart00224
Location:221 → 280

GGL; G protein gamma subunit-like motifs

cd08739
Location:292 → 412

RGS_RGS9; Regulator of G protein signaling (RGS) domain found in the RGS9 protein

cd04450
Location:22 → 109

DEP_RGS7-like; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in RGS (regulator of G-protein signaling) proteins of the subfamily R7. This subgroup contains RGS7, RGS6, RGS9 and RGS11. They share a common domain architecture, containing, beside the RGS domain, ...
NM_003835.4 → NP_003826.2 regulator of G-protein signaling 9 isoform 1

See identical proteins and their annotated locations for NP_003826.2

Status: REVIEWED

Source sequence(s)

AF493933, AK289876, CK300804, DC322215

Consensus CDS

CCDS42373.1

UniProtKB/Swiss-Prot

A8K3C0, O75573, O75916, Q696R2, Q8TD64, Q8TD65, Q9HC32, Q9HC33

UniProtKB/TrEMBL

A8K1G1

Related

ENSP00000262406.9, ENST00000262406.10

Conserved Domains (3) summary

smart00224
Location:224 → 283

GGL; G protein gamma subunit-like motifs

cd08739
Location:295 → 415

RGS_RGS9; Regulator of G protein signaling (RGS) domain found in the RGS9 protein

cd04450
Location:22 → 109

DEP_RGS7-like; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in RGS (regulator of G-protein signaling) proteins of the subfamily R7. This subgroup contains RGS7, RGS6, RGS9 and RGS11. They share a common domain architecture, containing, beside the RGS domain, ...