ITPR1 Chromosome 3
Inositol 1,4,5-trisphosphate receptor type 1
Upload your DNA to see your personal genotypes for variants in ITPR1.
What This Gene Does
This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
"Inositol 1,4,5-triphosphate receptors|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
3p26.1
Ensembl
ENSG00000150995
Associated Conditions (23)
Inborn genetic diseases
Spinocerebellar ataxia type 29
ITPR1-related syndromic and non-syndromic hereditary ataxias
Autosomal dominant cerebellar ataxia
Gillespie syndrome
Spinocerebellar ataxia type 15/16
ITPR1-related disorder
Intellectual disability
Clear cell carcinoma of kidney
Malignant tumor of urinary bladder
Familial cancer of breast
Gastric cancer
Thymoma
Melanoma
Acute myeloid leukemia
Uterine corpus endometrial carcinoma
Lung cancer
Neurodevelopmental disorder
Spastic ataxia
Anterior segment dysgenesis
+3 more conditions
Key Variants
RS1057518026
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia type 29, Inborn genetic diseases
Health Risk
RS1064796252
Conflicting classifications of pathogenicity
Inborn genetic diseases, ITPR1-related syndromic and non-syndromic hereditary ataxias, Spinocerebellar ataxia type 29
Health Risk
RS1189879446
Conflicting classifications of pathogenicity
Health Risk
RS1297659569
Conflicting classifications of pathogenicity
Health Risk
RS145989158
Conflicting classifications of pathogenicity
Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
Health Risk
RS148675260
Conflicting classifications of pathogenicity
Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
Health Risk
RS1553666546
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia type 29, Gillespie syndrome
Health Risk
RS1553757628
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia type 15/16, Gillespie syndrome
Health Risk
RS1559603629
Conflicting classifications of pathogenicity
Health Risk
RS184969640
Conflicting classifications of pathogenicity
ITPR1-related disorder, ITPR1-related disorder
Health Risk
RS185464679
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS187571979
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 15/16
Health Risk
All Variants (151)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2093873570 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16 |
| RS2093873717 | Health Risk | Likely pathogenic | Intellectual disability, Spinocerebellar ataxia type 29, Intellectual disability |
| RS2094756404 | Health Risk | Likely pathogenic | — |
| RS2106492882 | Health Risk | Likely pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS2106494596 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS2125193560 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS2125201760 | Health Risk | Likely pathogenic | — |
| RS2125235756 | Health Risk | Likely pathogenic | — |
| RS2125241261 | Health Risk | Likely pathogenic | — |
| RS2125272771 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS2125283159 | Health Risk | Likely pathogenic | — |
| RS2469879768 | Health Risk | Likely pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS2469953279 | Health Risk | Likely pathogenic | Bilateral congenital mydriasis, Bilateral congenital mydriasis |
| RS2470742049 | Health Risk | Likely pathogenic | — |
| RS556943368 | Health Risk | Likely pathogenic | — |
| RS863224882 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS869312685 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 15/16 |
| RS1064796337 | Health Risk | Pathogenic | — |
| RS1114167316 | Health Risk | Pathogenic | Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS1131691919 | Health Risk | Pathogenic | Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS121912425 | Health Risk | Pathogenic | Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16 |
| RS1322796318 | Health Risk | Pathogenic | Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS1553654413 | Health Risk | Pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS1553689752 | Health Risk | Pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS1553756062 | Health Risk | Pathogenic | Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS1559638068 | Health Risk | Pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS2125196920 | Health Risk | Pathogenic | — |
| RS2125201841 | Health Risk | Pathogenic | Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16 |
| RS2125214086 | Health Risk | Pathogenic | — |
| RS2125283083 | Health Risk | Pathogenic | — |
| RS2125423427 | Health Risk | Pathogenic | — |
| RS2469884530 | Health Risk | Pathogenic | — |
| RS374124279 | Health Risk | Pathogenic | — |
| RS397514536 | Health Risk | Pathogenic | Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS749438937 | Health Risk | Pathogenic | — |
| RS878853171 | Health Risk | Pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS878853172 | Health Risk | Pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS878853173 | Health Risk | Pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS878853174 | Health Risk | Pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS878853175 | Health Risk | Pathogenic | Gillespie syndrome, Inborn genetic diseases, Gillespie syndrome |
| RS878853176 | Health Risk | Pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS878853177 | Health Risk | Pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS886058579 | Health Risk | Pathogenic | — |
| RS1553758021 | Health Risk | Pathogenic/Likely pathogenic | Gillespie syndrome, ITPR1-associated cerebellar ataxia spectrum disorder, Spinocerebellar ataxia type 29 |
| RS1559603328 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 29 |
| RS2125159664 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS2125159710 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16 |
| RS2469794297 | Health Risk | Pathogenic/Likely pathogenic | Gillespie syndrome, Gillespie syndrome |
| RS760588490 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS797044955 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 15/16 |