1. Gene
  2. RGS6 - regulator of G protein signaling 6 Gene

RGS6 - regulator of G protein signaling 6 Gene

Homo sapiens

Also known as GAP; S914; HA117

Gene ID: 9628 | Gene type: protein coding

About RGS6

Cytogenetic location: 14q24.2 Genomic coordinates (GRCh38): 14:71,867,335-72,630,029 (from NCBI)

This gene has 20 transcripts (splice variants), 265 orthologues and 23 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and Cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011]

RGS6 Products(34)

mRNA Protein Name
NM_001204416.3 NP_001191345.1 regulator of G-protein signaling 6 isoform 1
NM_001204417.3 NP_001191346.1 regulator of G-protein signaling 6 isoform 3
NM_001204418.3 NP_001191347.1 regulator of G-protein signaling 6 isoform 4
NM_001204419.3 NP_001191348.1 regulator of G-protein signaling 6 isoform 5
NM_001204420.3 NP_001191349.1 regulator of G-protein signaling 6 isoform 6
NM_001204421.3 NP_001191350.1 regulator of G-protein signaling 6 isoform 7
NM_001204422.3 NP_001191351.1 regulator of G-protein signaling 6 isoform 8
NM_001204423.2 NP_001191352.1 regulator of G-protein signaling 6 isoform 9
NM_001204424.2 NP_001191353.1 regulator of G-protein signaling 6 isoform 1
NM_001370270.1 NP_001357199.1 regulator of G-protein signaling 6 isoform 10
NM_001370271.1 NP_001357200.1 regulator of G-protein signaling 6 isoform 10
NM_001370272.1 NP_001357201.1 regulator of G-protein signaling 6 isoform 10
NM_001370273.1 NP_001357202.1 regulator of G-protein signaling 6 isoform 10
NM_001370274.1 NP_001357203.1 regulator of G-protein signaling 6 isoform 10
NM_001370275.1 NP_001357204.1 regulator of G-protein signaling 6 isoform 11
NM_001370276.1 NP_001357205.1 regulator of G-protein signaling 6 isoform 11
NM_001370277.1 NP_001357206.1 regulator of G-protein signaling 6 isoform 12
NM_001370278.1 NP_001357207.1 regulator of G-protein signaling 6 isoform 13
NM_001370279.1 NP_001357208.1 regulator of G-protein signaling 6 isoform 14
NM_001370280.1 NP_001357209.1 regulator of G-protein signaling 6 isoform 15
NM_001370281.1 NP_001357210.1 regulator of G-protein signaling 6 isoform 16
NM_001370282.1 NP_001357211.1 regulator of G-protein signaling 6 isoform 17
NM_001370283.1 NP_001357212.1 regulator of G-protein signaling 6 isoform 18
NM_001370284.1 NP_001357213.1 regulator of G-protein signaling 6 isoform 1
NM_001370286.1 NP_001357215.1 regulator of G-protein signaling 6 isoform 19
NM_001370287.1 NP_001357216.1 regulator of G-protein signaling 6 isoform 2
NM_001370288.1 NP_001357217.1 regulator of G-protein signaling 6 isoform 2
NM_001370289.1 NP_001357218.1 regulator of G-protein signaling 6 isoform 2
NM_001370290.1 NP_001357219.1 regulator of G-protein signaling 6 isoform 20
NM_001370291.1 NP_001357220.1 regulator of G-protein signaling 6 isoform 20
NM_001370292.1 NP_001357221.1 regulator of G-protein signaling 6 isoform 6
NM_001370293.1 NP_001357222.1 regulator of G-protein signaling 6 isoform 6
NM_001370294.1 NP_001357223.1 regulator of G-protein signaling 6 isoform 21
NM_004296.7 NP_004287.3 regulator of G-protein signaling 6 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables GTPase activator activity IDA
IDA: Inferred from direct assay
10521509 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22939624 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of GTPase activity IDA
IDA: Inferred from direct assay
10521509 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytosol IDA
IDA: Inferred from direct assay
10521509 GOA
located in membrane IDA
IDA: Inferred from direct assay
10521509 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

RGS6 Protein Structure

DEP

DEP: Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) (43 - 113)

G-gamma

G-gamma: GGL domain (256 - 318)

RGS

RGS: Regulator of G protein signaling domain (336 - 450)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 472 a.a.
Protein Preferred Names Protein Names

regulator of G-protein signaling 6

regulator of G-protein signalling 6

RGS6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
RGS6 P49758 HSP90AB1 Homo sapiens P08238
Lumier
22939624
Intra
RGS6 P49758 GNB5 Homo sapiens O14775
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h

CSNB1H

Congenital Stationary Night Blindness Type 1h

Night Blindness, Congenital Stationary, 1h

Neuronitis
Prolonged Electroretinal Response Suppression

Bradyopsia

PERRS

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

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

Orthologs Information

Species Symbol Source ID
Felis catus RGS6 VGNC VGNC:64597
Bos taurus RGS6 VGNC VGNC:54476
Macaca mulatta RGS6 VGNC VGNC:76691
Rattus norvegicus RGS6 RGD RGD:3569
Canis familiaris RGS6 VGNC VGNC:45535
Mus musculus RGS6 MGD MGI:1354730