PIK3CD Chromosome 1
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
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What This Gene Does
Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Phosphatidylinositol 3-kinase family
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000171608
Associated Conditions (9)
Immunodeficiency 14
Inborn genetic diseases
Immunodeficiency 14b
autosomal recessive
Abnormality of the immune system
Moyamoya angiopathy
Combined immunodeficiency with faciooculoskeletal anomalies
Inherited Immunodeficiency Diseases
PIK3CD-related disorder
Key Variants
RS1649753771
Conflicting classifications of pathogenicity
Immunodeficiency 14, Immunodeficiency 14
Health Risk
RS186998116
Conflicting classifications of pathogenicity
Immunodeficiency 14, Immunodeficiency 14
Health Risk
RS200226248
Conflicting classifications of pathogenicity
Immunodeficiency 14, Inborn genetic diseases, Immunodeficiency 14
Health Risk
RS373365253
Conflicting classifications of pathogenicity
Immunodeficiency 14, Immunodeficiency 14b, autosomal recessive
Health Risk
RS756497515
Conflicting classifications of pathogenicity
Immunodeficiency 14, Inborn genetic diseases, Immunodeficiency 14
Health Risk
RS770275584
Conflicting classifications of pathogenicity
Immunodeficiency 14, Inborn genetic diseases, Immunodeficiency 14
Health Risk
RS1557669079
Likely pathogenic
Immunodeficiency 14, Abnormality of the immune system, Immunodeficiency 14
Health Risk
RS1648809005
Likely pathogenic
Moyamoya angiopathy, Moyamoya angiopathy
Health Risk
RS1648840773
Likely pathogenic
Immunodeficiency 14, Immunodeficiency 14
Health Risk
RS2100954909
Likely pathogenic
Immunodeficiency 14, Immunodeficiency 14
Health Risk
RS2100954945
Likely pathogenic
Immunodeficiency 14, Immunodeficiency 14
Health Risk
RS2524804604
Likely pathogenic
Immunodeficiency 14b, autosomal recessive, Immunodeficiency 14b
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1649753771 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 14, Immunodeficiency 14 |
| RS186998116 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 14, Immunodeficiency 14 |
| RS200226248 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 14, Inborn genetic diseases, Immunodeficiency 14 |
| RS373365253 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 14, Immunodeficiency 14b, autosomal recessive |
| RS756497515 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 14, Inborn genetic diseases, Immunodeficiency 14 |
| RS770275584 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 14, Inborn genetic diseases, Immunodeficiency 14 |
| RS1557669079 | Health Risk | Likely pathogenic | Immunodeficiency 14, Abnormality of the immune system, Immunodeficiency 14 |
| RS1648809005 | Health Risk | Likely pathogenic | Moyamoya angiopathy, Moyamoya angiopathy |
| RS1648840773 | Health Risk | Likely pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS2100954909 | Health Risk | Likely pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS2100954945 | Health Risk | Likely pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS2524804604 | Health Risk | Likely pathogenic | Immunodeficiency 14b, autosomal recessive, Immunodeficiency 14b |
| RS2524805817 | Health Risk | Likely pathogenic | Immunodeficiency 14b, autosomal recessive, Immunodeficiency 14b |
| RS2524811532 | Health Risk | Likely pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS28730670 | Health Risk | Likely pathogenic | Immunodeficiency 14, Immunodeficiency 14, Immunodeficiency 14 |
| RS587777390 | Health Risk | Likely pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS1064795762 | Health Risk | Pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS1285460528 | Health Risk | Pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS1298704258 | Health Risk | Pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS1553168726 | Health Risk | Pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS2100840815 | Health Risk | Pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS2100956273 | Health Risk | Pathogenic | Immunodeficiency 14b, autosomal recessive, Immunodeficiency 14b |
| RS2100976217 | Health Risk | Pathogenic | Combined immunodeficiency with faciooculoskeletal anomalies, Combined immunodeficiency with faciooculoskeletal anomalies |
| RS2100990445 | Health Risk | Pathogenic | Immunodeficiency 14b, autosomal recessive, Immunodeficiency 14b |
| RS2524815453 | Health Risk | Pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS2524842577 | Health Risk | Pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS2525089647 | Health Risk | Pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS2525151352 | Health Risk | Pathogenic | Immunodeficiency 14, Immunodeficiency 14 |
| RS397518423 | Health Risk | Pathogenic | Immunodeficiency 14, Inherited Immunodeficiency Diseases, Combined immunodeficiency with faciooculoskeletal anomalies |
| RS587777389 | Health Risk | Pathogenic | Immunodeficiency 14, PIK3CD-related disorder, Immunodeficiency 14 |
| RS747483450 | Health Risk | Pathogenic | Immunodeficiency 14, Immunodeficiency 14 |