RGS9 Chromosome 17
Regulator of G protein signaling 9
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What This Gene Does
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]
Gene Info
Gene Group
"Regulators of G-protein signaling|DEP domain containing"
Locus Type
gene with protein product
Location
17q24.1
Ensembl
ENSG00000108370
Associated Conditions (7)
Inborn genetic diseases
RGS9-related disorder
Prolonged electroretinal response suppression 1
Retinal dystrophy
Uterine corpus endometrial carcinoma
Bradyopsia
Leber congenital amaurosis
Key Variants
RS1036693027
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142843407
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200492363
Conflicting classifications of pathogenicity
Health Risk
RS200798153
Conflicting classifications of pathogenicity
Inborn genetic diseases, RGS9-related disorder, Inborn genetic diseases
Health Risk
RS201026246
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201997888
Conflicting classifications of pathogenicity
RGS9-related disorder, Inborn genetic diseases, RGS9-related disorder
Health Risk
RS373346845
Conflicting classifications of pathogenicity
Health Risk
RS538728807
Conflicting classifications of pathogenicity
RGS9-related disorder, RGS9-related disorder
Health Risk
RS554468255
Conflicting classifications of pathogenicity
Prolonged electroretinal response suppression 1, Prolonged electroretinal response suppression 1
Health Risk
RS570957320
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS574696410
Conflicting classifications of pathogenicity
Health Risk
RS786205509
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1036693027 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142843407 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200492363 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200798153 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, RGS9-related disorder, Inborn genetic diseases |
| RS201026246 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201997888 | Health Risk | Conflicting classifications of pathogenicity | RGS9-related disorder, Inborn genetic diseases, RGS9-related disorder |
| RS373346845 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS538728807 | Health Risk | Conflicting classifications of pathogenicity | RGS9-related disorder, RGS9-related disorder |
| RS554468255 | Health Risk | Conflicting classifications of pathogenicity | Prolonged electroretinal response suppression 1, Prolonged electroretinal response suppression 1 |
| RS570957320 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS574696410 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS786205509 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS797044755 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS1176526663 | Health Risk | Likely pathogenic | — |
| RS1910655109 | Health Risk | Likely pathogenic | — |
| RS1912631466 | Health Risk | Likely pathogenic | — |
| RS199537336 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2143975211 | Health Risk | Likely pathogenic | — |
| RS2144080315 | Health Risk | Likely pathogenic | — |
| RS2509363977 | Health Risk | Likely pathogenic | — |
| RS2509364075 | Health Risk | Likely pathogenic | — |
| RS2509366840 | Health Risk | Likely pathogenic | — |
| RS2509368564 | Health Risk | Likely pathogenic | — |
| RS745697064 | Health Risk | Likely pathogenic | — |
| RS751259650 | Health Risk | Likely pathogenic | — |
| RS776501006 | Health Risk | Likely pathogenic | Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma |
| RS1017448105 | Health Risk | Pathogenic | — |
| RS1159593196 | Health Risk | Pathogenic | — |
| RS1212843827 | Health Risk | Pathogenic | — |
| RS121908449 | Health Risk | Pathogenic | Bradyopsia, Leber congenital amaurosis, Bradyopsia |
| RS1221888867 | Health Risk | Pathogenic | — |
| RS1420558923 | Health Risk | Pathogenic | — |
| RS1910656890 | Health Risk | Pathogenic | — |
| RS1910941663 | Health Risk | Pathogenic | — |
| RS1912315295 | Health Risk | Pathogenic | — |
| RS200896958 | Health Risk | Pathogenic | — |
| RS2143992779 | Health Risk | Pathogenic | — |
| RS749253483 | Health Risk | Pathogenic | — |
| RS749870323 | Health Risk | Pathogenic | — |
| RS760312819 | Health Risk | Pathogenic | Bradyopsia, Bradyopsia |
| RS777243892 | Health Risk | Pathogenic | — |
| RS779334298 | Health Risk | Pathogenic | — |
| RS779441016 | Health Risk | Pathogenic | — |
| RS779906163 | Health Risk | Pathogenic | — |
| RS781307223 | Health Risk | Pathogenic | — |