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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
Chromosome 1 · 1p36.22
NCBI Gene: 5293Ensembl: ENSG00000171608.18HGNC: HGNC:8977UniProt: A0A2K8FKV1
232PubMed Papers
23Diseases
46Drugs
34Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneKinase
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of cell migrationpositive regulation of gene expressionpositive regulation of endothelial cell migrationcytosolactivated PI3K-delta syndromeimmunodeficiency 14b, autosomal recessiveCombined immunodeficiency with facio-oculo-skeletal anomaliescombined immunodeficiency with faciooculoskeletal anomalies
✦AI Summary

PIK3CD encodes the catalytic p110δ subunit of phosphoinositide 3-kinase (PI3K), a lipid kinase that phosphorylates phosphatidylinositol 4,5-bisphosphate to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) 12. PIP3 recruits PH domain-containing proteins like AKT1 to the membrane, activating signaling cascades controlling cell growth, survival, proliferation, and migration. PIK3CD is essential for adaptive immunity: it mediates B-cell receptor signaling, proliferation, cytokine production, and antibody class switching 3; mediates T-cell receptor signaling, T-cell migration, and memory formation 4; and contributes to natural killer cell development and activation. Heterozygous gain-of-function PIK3CD mutations cause Activated PI3Kδ Syndrome (APDS1), a primary immunodeficiency characterized by recurrent respiratory infections, lymphoproliferation (70.4% of patients), hyper-IgM syndrome (48.1%), and autoimmunity 3. APDS patients show decreased B and CD4+ T cells and elevated malignancy risk (12.8%) 3. PIK3CD GOF mutations impair cytotoxic CD8+ T and NK cell differentiation, inducing premature exhaustion and reducing capacity to kill EBV-infected cells 5. Conversely, base-editing screens identified PIK3CD gain-of-function variants that enhance T-cell signaling and anti-tumor cytotoxicity in engineered T cells 67, suggesting therapeutic potential. The FDA-approved PI3Kδ inhibitor leniolisib rescues aberrant signaling in PIK3CD GOF T cells 7.

Sources cited
1
PIK3CD phosphorylates phosphatidylinositol and phosphorylated derivatives at position 3 of the inositol ring
PMID: 9235916
2
PIK3CD uses ATP and PtdIns(4,5)P2 to generate PIP3 (phosphatidylinositol 3,4,5-trisphosphate)
PMID: 15135396
3
APDS is caused by PIK3CD heterozygous gain-of-function mutations; clinical features include respiratory infections (43.6% pneumonia), lymphoproliferation (70.4%), hyper-IgM syndrome (48.1%), autoimmunity (28%), and malignancy (12.8%); decreased B and CD4+ T cells in 74.8% and 64.8% of patients respectively
PMID: 31111319
4
Base-editing mutagenesis identified PIK3CD variants that tune T-cell activation responses with both gain-of-function and loss-of-function effects
PMID: 38093011
5
PIK3CD gain-of-function mutations impair CD8+ T and NK cell differentiation, induce premature exhaustion/senescence, and reduce capacity to kill EBV-infected B cells
PMID: 29800648
6
PIK3CD gain-of-function variants enhance T-cell signaling, cytokine production, and lysis of cognate target cells; loss-of-function variants do not enhance function
PMID: 38783148
7
Leniolisib (FDA-approved PI3Kδ inhibitor) rescues aberrant signaling in PIK3CD gain-of-function T cells; some PIK3R1 hotspots show partial drug resistance
PMID: 40543502
Disease Associationsⓘ23
activated PI3K-delta syndromeOpen Targets
0.76Strong
immunodeficiency 14b, autosomal recessiveOpen Targets
0.69Moderate
Combined immunodeficiency with facio-oculo-skeletal anomaliesOpen Targets
0.62Moderate
combined immunodeficiency with faciooculoskeletal anomaliesOpen Targets
0.62Moderate
chronic lymphocytic leukemiaOpen Targets
0.61Moderate
neoplasmOpen Targets
0.59Moderate
follicular lymphomaOpen Targets
0.58Moderate
non-Hodgkins lymphomaOpen Targets
0.55Moderate
neoplasm of mature B-cellsOpen Targets
0.51Moderate
lymphomaOpen Targets
0.51Moderate
marginal zone B-cell lymphomaOpen Targets
0.47Moderate
combined immunodeficiencyOpen Targets
0.46Moderate
breast cancerOpen Targets
0.43Moderate
genetic disorderOpen Targets
0.42Moderate
cancerOpen Targets
0.41Moderate
gastric cancerOpen Targets
0.40Weak
inborn error of immunityOpen Targets
0.37Weak
stomach neoplasmOpen Targets
0.37Weak
bronchiectasisOpen Targets
0.37Weak
lymphoma, non-Hodgkin, familialOpen Targets
0.37Weak
Immunodeficiency 14A with lymphoproliferation, autosomal dominantUniProt
Immunodeficiency 14B, autosomal recessiveUniProt
Roifman-Chitayat syndromeUniProt
Pathogenic Variants34
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)Pathogenic
Immunodeficiency 14|not provided|Inherited Immunodeficiency Diseases|Immunodeficiency 14b, autosomal recessive;Combined immunodeficiency with faciooculoskeletal anomalies;Immunodeficiency 14|Inborn genetic diseases
★★★☆2025→ Residue 1021
NM_005026.5(PIK3CD):c.3074A>G (p.Glu1025Gly)Pathogenic
not provided|Immunodeficiency 14
★★★☆2025→ Residue 1025
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly)Likely pathogenic
Immunodeficiency 14|not provided|Abnormality of the immune system
★★★☆2025→ Residue 525
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys)Likely pathogenic
Immunodeficiency 14
★★★☆2025→ Residue 334
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg)Likely pathogenic
Immunodeficiency 14
★★★☆2025→ Residue 416
NM_005026.5(PIK3CD):c.241G>A (p.Glu81Lys)Likely pathogenic
Immunodeficiency 14
★★★☆2025→ Residue 81
NM_005026.5(PIK3CD):c.1574A>C (p.Glu525Ala)Likely pathogenic
Immunodeficiency 14
★★★☆2025→ Residue 525
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys)Pathogenic
Immunodeficiency 14|PIK3CD-related disorder
★★★☆2025→ Residue 525
NM_005026.5(PIK3CD):c.1571A>C (p.Tyr524Ser)Likely pathogenic
Immunodeficiency 14
★★★☆2025→ Residue 524
NM_005026.5(PIK3CD):c.1570T>A (p.Tyr524Asn)Likely pathogenic
Immunodeficiency 14
★★★☆2025→ Residue 524
NM_005026.5(PIK3CD):c.371G>A (p.Gly124Asp)Likely pathogenic
Immunodeficiency 14
★★★☆2025→ Residue 124
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys)Likely pathogenic
Immunodeficiency 14
★★★☆2025→ Residue 334
NM_005026.5(PIK3CD):c.223C>T (p.Gln75Ter)Pathogenic
Immunodeficiency 14
★☆☆☆2026→ Residue 75
NM_005026.5(PIK3CD):c.1314_1333del (p.Leu439fs)Pathogenic
Immunodeficiency 14
★☆☆☆2026→ Residue 439
NM_005026.5(PIK3CD):c.1571A>G (p.Tyr524Cys)Likely pathogenic
not provided
★☆☆☆2025→ Residue 524
NM_005026.5(PIK3CD):c.236_237del (p.Gln79fs)Pathogenic
Immunodeficiency 14
★☆☆☆2025→ Residue 79
NM_005026.5(PIK3CD):c.2348-11_2356delLikely pathogenic
Immunodeficiency 14
★☆☆☆2025
NM_005026.5(PIK3CD):c.171_178del (p.Leu58fs)Pathogenic
Immunodeficiency 14
★☆☆☆2025→ Residue 58
NM_005026.5(PIK3CD):c.104_105del (p.Pro35fs)Pathogenic
Immunodeficiency 14
★☆☆☆2025→ Residue 35
NM_005026.5(PIK3CD):c.1708del (p.Ser570fs)Pathogenic
Immunodeficiency 14
★☆☆☆2025→ Residue 570
View on ClinVar ↗
Drug Targets46
ACALISIBPhase I
PI3-kinase p110-delta subunit inhibitor
chronic lymphocytic leukemia
AMG-319Phase II
PI3-kinase p110-delta subunit inhibitor
APITOLISIBPhase II
PI3-kinase class I inhibitor
non-Hodgkins lymphoma
AZD-6482Phase I
PI3-kinase class I inhibitor
AZD-8186Phase I
PI3-kinase p110-beta subunit inhibitor
BGT-226Phase I/II
PI3-kinase class I inhibitor
BUPARLISIBPhase III
PI3-kinase class I inhibitor
breast cancer
CAL-263Phase I
PI3-kinase p110-delta subunit inhibitor
allergic rhinitis
COPANLISIBApproved
PI3-kinase p110-alpha subunit inhibitor
follicular lymphoma
COPANLISIB HYDROCHLORIDEApproved
PI3-kinase p110-alpha subunit inhibitor
follicular lymphoma
DACTOLISIBPhase III
PI3-kinase class I inhibitor
Respiratory tract infection
DS-7423Phase I
Serine/threonine-protein kinase mTOR inhibitor
DUVELISIBApproved
PI3-kinase p110-gamma subunit inhibitor
follicular lymphoma
DUVELISIB MONOHYDRATEApproved
PI3-kinase p110-gamma subunit inhibitor
FIMEPINOSTATPhase II
Histone deacetylase inhibitor
lymphoma
GEDATOLISIBPhase III
PI3-kinase class I inhibitor
breast cancer
GSK-1059615Phase I
PI3-kinase class I inhibitor
breast cancer
GSK-2269557Phase II
PI3-kinase p110-delta subunit inhibitor
asthma
IDELALISIBApproved
PI3-kinase p110-delta subunit inhibitor
chronic lymphocytic leukemia
INCB-40093Phase II
PI3-kinase p110-delta subunit inhibitor
Hodgkins lymphoma
IZORLISIBPhase I/II
PI3-kinase class I inhibitor
colorectal cancer
LENIOLISIBApproved
PI3-kinase p110-delta subunit inhibitor
stomach neoplasm
LENIOLISIB PHOSPHATEApproved
PI3-kinase p110-delta subunit inhibitor
inborn error of immunity
NEMIRALISIBPhase II
PI3-kinase p110-delta subunit inhibitor
chronic obstructive pulmonary disease
OMIPALISIBPhase I
PI3-kinase class I inhibitor
lymphoma
PANULISIBPhase I
PI3-kinase class I inhibitor
PARSACLISIBApproved
PI3-kinase p110-delta subunit inhibitor
neoplasm
PAXALISIBPhase II
PI3-kinase class I inhibitor
brain glioblastoma
PF-04691502Phase II
PI3-kinase class I inhibitor
endometrial cancer
PICTILISIBPhase II
PI3-kinase class I inhibitor
breast cancer
PILARALISIBPhase II
PI3-kinase class I inhibitor
RECILISIBPhase I
PI3-kinase class I inhibitor
SAMOTOLISIBPhase II
PI3-kinase class I inhibitor
prostate cancer
SELETALISIBPhase II
PI3-kinase p110-delta subunit inhibitor
Sjogren syndrome
SF-1126Phase II
PI3-kinase class I inhibitor
head and neck malignant neoplasia
SONOLISIBPhase II
PI3-kinase class I inhibitor
TASELISIBPhase III
PI3-kinase class I inhibitor
breast cancer
TENALISIBPhase II
PI3-kinase p110-gamma subunit inhibitor
chronic lymphocytic leukemia
TG100-115Phase I/II
PI3-kinase p110-delta subunit inhibitor
angioedema
UMBRALISIBApproved
Casein kinase I epsilon inhibitor
follicular lymphoma
UMBRALISIB TOSYLATEApproved
Casein kinase I epsilon inhibitor
follicular lymphoma
VOXTALISIBPhase II
Serine/threonine-protein kinase mTOR inhibitor
VS-5584Phase I
Serine/threonine-protein kinase mTOR inhibitor
Malignant Mesothelioma
WX-037Phase I
PI3-kinase class I inhibitor
neoplasm
ZANDELISIBPhase II
PI3-kinase p110-delta subunit inhibitor
follicular lymphoma
ZSTK-474Phase I
PI3-kinase class I inhibitor
Related Genes
AKT2Protein interaction100%ALKProtein interaction100%CBLBProtein interaction100%CRKLProtein interaction100%DAB1Protein interaction100%ERBB3Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
29%
Ovary
15%
Brain
10%
Liver
6%
Heart
6%
Gene Interaction Network
Click a node to explore
PIK3CDAKT2ALKCBLBCRKLDAB1ERBB3
PROTEIN STRUCTURE
Preparing viewer…
PDB6PYR · 2.21 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.11–0.23]
RankingsWhere PIK3CD stands among ~20K protein-coding genes
  • #1,728of 20,598
    Most Researched232 · top 10%
  • #156of 1,025
    FDA-Approved Drug Targets10 · top quartile
  • #1,691of 5,498
    Most Pathogenic Variants34
  • #636of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedPIK3CD
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Base-editing mutagenesis maps alleles to tune human T cell functions.
PMID: 38093011
Nature · 2024
1.00
2
Polyethylene terephthalate microplastics promote pulmonary fibrosis via AKT1, PIK3CD, and PIM1: A network toxicology and multi-omics analysis.
PMID: 40876188
Ecotoxicol Environ Saf · 2025
0.90
3
Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review.
PMID: 31111319
Clin Rev Allergy Immunol · 2020
0.80
4
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
PMID: 34447369
Front Immunol · 2021
0.70
5
Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4
PMID: 30738173
J Allergy Clin Immunol · 2019
0.64