PIK3CD

Chr 1

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

Also known as: APDS, IMD14, IMD14A, IMD14B, P110DELTA, PI3K, PI3Kdelta, ROCHIS

NCBI Gene: 5293ENSG00000171608UniProt: O00329

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 14A with lymphoproliferation, autosomal dominant
UniProtImmunodeficiency 14B, autosomal recessive
UniProtRoifman-Chitayat syndrome

Clinical highlights

Gene-disease validity (ClinGen)
immunodeficiency 14b, autosomal recessive · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
112
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.20
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
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GeneReview available — PIK3CD
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.20LOEUF
pLI 1.000
Z-score 6.15
OE 0.09 (0.05–0.20)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
4.27Z-score
OE missense 0.52 (0.48–0.57)
331 obs / 633.9 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.09 (0.05–0.20)
0≤0.351.4
Missense OE?0.52 (0.48–0.57)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 5 / 53.6Missense obs/exp: 331 / 633.9Syn Z: -1.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PIK3CD · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients