Entrez Gene ID | 9628 |
---|---|
Official Gene Symbol | RGS6 (GeneCards) |
Full name | regulator of G protein signaling 6 |
Location | 14q24.2 |
Other ids | Vega : OTTHUMG00000171340 MIM : 603894 HGNC : HGNC:10002 Ensembl : ENSG00000182732 |
Other names | GAP, S914, HA117 |
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] |
Found 8 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
18133 | 9628 | RGS6 | 14 | 72533917 | 72533917 | Asymptomatic | HiSeq X Ten |
18210 | 9628 | RGS6 | 14 | 72411634 | 72411634 | Asymptomatic | HiSeq X Ten |
18331 | 9628 | RGS6 | 14 | 72897161 | 72897161 | Asymptomatic | HiSeq X Ten |
18383 | 9628 | RGS6 | 14 | 72639936 | 72639936 | Asymptomatic | HiSeq X Ten |
18554 | 9628 | RGS6 | 14 | 72805190 | 72805190 | Asymptomatic | HiSeq X Ten |
18627 | 9628 | RGS6 | 14 | 72541351 | 72541351 | Cockayne syndrome | HiSeq X Ten |
18702 | 9628 | RGS6 | 14 | 72953547 | 72953547 | Xeroderma Pigmentosum | HiSeq X Ten |
18709 | 9628 | RGS6 | 14 | 72433522 | 72433522 | Xeroderma Pigmentosum | HiSeq X Ten |