PIK3R1 Chromosome 5
Phosphoinositide-3-kinase regulatory subunit 1
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What This Gene Does
Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
5q13.1
Ensembl
ENSG00000145675
Associated Conditions (31)
Agammaglobulinemia 7
autosomal recessive
Immunodeficiency 36 with lymphoproliferation
SHORT syndrome
Inborn genetic diseases
Multiple congenital anomalies/dysmorphic syndrome
Gastric cancer
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Cholangiocarcinoma
Activated PI3K-delta syndrome
Vascular Malformations and Overgrowth
Overgrowth syndrome
Neoplasm
CLOVES syndrome
Diffuse pediatric-type high-grade glioma
+11 more conditions
Key Variants
RS1261761196
Conflicting classifications of pathogenicity
Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36 with lymphoproliferation
Health Risk
RS144312303
Conflicting classifications of pathogenicity
SHORT syndrome, Immunodeficiency 36 with lymphoproliferation, Agammaglobulinemia 7
Health Risk
RS149905863
Conflicting classifications of pathogenicity
Immunodeficiency 36 with lymphoproliferation, Agammaglobulinemia 7, autosomal recessive
Health Risk
RS1746468268
Conflicting classifications of pathogenicity
Agammaglobulinemia 7, autosomal recessive, SHORT syndrome
Health Risk
RS200653607
Conflicting classifications of pathogenicity
Immunodeficiency 36 with lymphoproliferation, Agammaglobulinemia 7, autosomal recessive
Health Risk
RS201254436
Conflicting classifications of pathogenicity
Immunodeficiency 36 with lymphoproliferation, SHORT syndrome, Agammaglobulinemia 7
Health Risk
RS368742778
Conflicting classifications of pathogenicity
Agammaglobulinemia 7, autosomal recessive, SHORT syndrome
Health Risk
RS374140006
Conflicting classifications of pathogenicity
SHORT syndrome, Immunodeficiency 36 with lymphoproliferation, Agammaglobulinemia 7
Health Risk
RS515726149
Conflicting classifications of pathogenicity
SHORT syndrome, SHORT syndrome
Health Risk
RS540361957
Conflicting classifications of pathogenicity
Immunodeficiency 36 with lymphoproliferation, SHORT syndrome, Agammaglobulinemia 7
Health Risk
RS763574306
Conflicting classifications of pathogenicity
SHORT syndrome, Agammaglobulinemia 7, autosomal recessive
Health Risk
RS770213442
Conflicting classifications of pathogenicity
Agammaglobulinemia 7, autosomal recessive, SHORT syndrome
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2112197421 | Health Risk | Pathogenic | SHORT syndrome, SHORT syndrome |
| RS2112253467 | Health Risk | Pathogenic | Immunodeficiency 36 with lymphoproliferation, SHORT syndrome, Agammaglobulinemia 7 |
| RS2531001005 | Health Risk | Pathogenic | SHORT syndrome, Agammaglobulinemia 7, autosomal recessive |
| RS2531001159 | Health Risk | Pathogenic | Agammaglobulinemia 7, autosomal recessive, SHORT syndrome |
| RS2531001766 | Health Risk | Pathogenic | Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36 with lymphoproliferation |
| RS2531010723 | Health Risk | Pathogenic | Agammaglobulinemia 7, autosomal recessive, SHORT syndrome |
| RS367669362 | Health Risk | Pathogenic | Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36 with lymphoproliferation |
| RS397509384 | Health Risk | Pathogenic | Agammaglobulinemia 7, autosomal recessive, SHORT syndrome |
| RS397514047 | Health Risk | Pathogenic | SHORT syndrome, SHORT syndrome |
| RS398122384 | Health Risk | Pathogenic | SHORT syndrome, SHORT syndrome |
| RS398122385 | Health Risk | Pathogenic | SHORT syndrome, SHORT syndrome |
| RS761402403 | Health Risk | Pathogenic | Overgrowth syndrome, Overgrowth syndrome |
| RS1057519838 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 36 with lymphoproliferation, SHORT syndrome, Agammaglobulinemia 7 |
| RS1403833564 | Health Risk | Pathogenic/Likely pathogenic | Inherited Immunodeficiency Diseases, Agammaglobulinemia 7, autosomal recessive |
| RS397515453 | Health Risk | Pathogenic/Likely pathogenic | SHORT syndrome, Immunodeficiency 36 with lymphoproliferation, Agammaglobulinemia 7 |
| RS587777709 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 36 with lymphoproliferation, SHORT syndrome, Agammaglobulinemia 7 |
| RS751582616 | Health Risk | Pathogenic/Likely pathogenic | Vascular Malformations and Overgrowth, CLOVES syndrome, Vascular Malformations and Overgrowth |