PIK3CD - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Gene

Also Known as APDS; PI3K; IMD14; p110D; IMD14A; IMD14B; ROCHIS; P110DELTA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5293

About PIK3CD

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:9,627,258-9,729,114 (from NCBI)

This gene has 23 transcripts (splice variants), 214 orthologues, 9 paralogues and is associated with 5 phenotypes. Broad expression in lymph node (RPKM 21.4), bone marrow (RPKM 20.0) and 22 other tissues.

Summary

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]

PIK3CD Products (38)

mRNA	Protein	Name
XM_047422564.1	XP_047278520.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X2
XM_047422556.1	XP_047278512.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_006710687.3	XP_006710750.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_047422561.1	XP_047278517.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X2
NM_001350234.2	NP_001337163.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform 2
XM_047422567.1	XP_047278523.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X3
XM_047422573.1	XP_047278529.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X4
XM_047422563.1	XP_047278519.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X2
XM_047422550.1	XP_047278506.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_047422574.1	XP_047278530.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X5
XM_024447663.2	XP_024303431.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X2
XM_047422555.1	XP_047278511.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_047422577.1	XP_047278533.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X5
XM_047422565.1	XP_047278521.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X2
XM_047422554.1	XP_047278510.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_024447664.2	XP_024303432.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X3
XM_006710689.3	XP_006710752.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_047422575.1	XP_047278531.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X5
XM_047422553.1	XP_047278509.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_047422560.1	XP_047278516.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_047422568.1	XP_047278524.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X3
XM_047422580.1	XP_047278536.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X7
XM_047422589.1	XP_047278545.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X8
XM_047422571.1	XP_047278527.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X4
XM_047422552.1	XP_047278508.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_047422572.1	XP_047278528.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X4
XM_047422576.1	XP_047278532.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X5
XM_047422557.1	XP_047278513.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_047422566.1	XP_047278522.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X3
XM_047422551.1	XP_047278507.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_047422558.1	XP_047278514.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
NM_001350235.1	NP_001337164.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform 3
XM_047422578.1	XP_047278534.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X6
XM_047422559.1	XP_047278515.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X1
XM_047422570.1	XP_047278526.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X4
XM_047422569.1	XP_047278525.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X3
XM_047422562.1	XP_047278518.1	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform X2
NM_005026.5	NP_005017.3	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables kinase activity	IDA IDA: Inferred from direct assay	25327288	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21827948	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI IGI: Inferred from genetic interaction	31915155	GOA
involved in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	25339672	GOA
acts upstream of or within phosphorylation	IDA IDA: Inferred from direct assay	25327288	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	22079609	GOA
involved in positive regulation of endothelial cell migration	IGI IGI: Inferred from genetic interaction	31915155	GOA
involved in positive regulation of endothelial cell proliferation	IGI IGI: Inferred from genetic interaction	31915155	GOA
involved in positive regulation of epithelial tube formation	IGI IGI: Inferred from genetic interaction	31915155	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	22079609	GOA
involved in positive regulation of neutrophil apoptotic process	IMP IMP: Inferred from mutant phenotype	25339672	GOA
involved in vascular endothelial growth factor signaling pathway	IGI IGI: Inferred from genetic interaction	31915155	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of phosphatidylinositol 3-kinase complex, class IA	IPI IPI: Inferred from physical interaction	28108251	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIK3CD Protein Structure

PI3K_p85B

PI3K_rbd

PI3K_C2

PI3Ka

PI3_PI4_kinase

0
200
400
600
800
1000
1044 a.a.

Protein Preferred Names	Protein Names
phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	PI3-kinase p110 subunit delta PI3Kdelta phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta short variant 8/20 phosphoinositide-3-kinase C phosphoinositide-3-kinase, catalytic, delta polypeptide variant p37delta ptdIns-3-kinase subunit p110-delta

PIK3CD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PIK3CD	O00329	HRAS	Homo sapiens	P01112	Anti Bait CoIP	22020336
Intra	PIK3CD	O00329	PIK3R1	Homo sapiens	P27986	Anti Bait CoIP	22020336
Intra	PIK3CD	O00329	PIK3R1	Homo sapiens	P27986	Anti Tag CoIP	24165795
Intra	PIK3CD	O00329	PIK3R3	Homo sapiens	Q92569	Validated Y2H	32296183
Intra	PIK3CD	O00329	PIK3R1	Homo sapiens	P27986-2	Y2H Prey Pooling	32296183
Intra	PIK3CD	O00329	PIK3R1	Homo sapiens	P27986-2	Validated Y2H	32296183
Intra	PIK3CD	O00329	PIK3R1	Homo sapiens	P27986-2	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

PIK3CD Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81872	PI3 Kinase p110 delta Antibody (YA1617)	WB, ICC/IF	Human, Mouse, Rat
HY-P81872A	PI3 Kinase p110 delta Antibody (YA1617)(PBS only)	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Chitayat Syndrome	CHYTS Bronchomalacia
Leukemia, Chronic Lymphocytic	Chronic Lymphocytic Leukemia B-Cell Chronic Lymphocytic Leukemia CLL B-Cell Chronic Lymphoid Leukemia Chronic Lymphatic Leukemia Chronic Lymphocytic Leukaemia Lymphoplasmacytic Leukemia Small Lymphocytic Lymphoma Leukemia, Chronic Lymphatic B-Cell Chronic Lymphocytic Leukaemia Chronic Lymphatic Leukaemia Lymphoplasmacytic Leukaemia B Cell Chronic Lymphocytic Leukemia Chronic B-Cell Lymphocytic Leukemia Leukemia, Lymphocytic, Chronic B-Cll Chronic Lymphoid Leukemia Leukemia Lymphocytic Chronic Lymphoma Small Lymphocytic Leukemia, Lymphocytic, Chronic, B-Cell
Immunodeficiency 14b, Autosomal Recessive	IMD14B
Lymphoid Interstitial Pneumonia	Lip Disease Lymphocytic Interstitial Pneumonia Lip Diseases LIP Disease Of Lips
Endometrial Cancer	Endometrial Carcinoma Endometrial Neoplasm Malignant Neoplasm Of Endometrium Endometrioid Carcinoma Endometrial Neoplasms Carcinoma, Endometrioid Endometrial Cancer, Familial Endometrial Carcinoma, Somatic Endometrial Cancer, Susceptibility To Endometrial Ca Malignant Endometrial Neoplasm Neoplasm Of Endometrium Primary Malignant Neoplasm Of Endometrium Tumor Of Endometrium Carcinoma Of The Endometrium Endometrioid Carcinoma Of Female Reproductive System ENDMC Carcinoma Endometrioid Endometrial Cancers Cancer, Endometrial Uterine Corpus Cancer
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Breast Cancer	Breast Carcinoma Breast Cancer, Familial Malignant Neoplasm Of Breast Male Breast Cancer Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Immunodeficiency 36	IMD36 Activated Phosphoinositide 3-Kinase Delta Syndrome 2 Immunodeficiency, Type 36
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
Roifman-Chitayat Syndrome	Combined Immunodeficiency With Faciooculoskeletal Anomalies ROCHIS Combined Immunodeficiency, Facial Dysmorphism, Optic Nerve Atrophy, Skeletal Anomalies, And Developmental Delay Roifman-Chitayat Syndrome, Digenic
Lymphopenia	Lymphocytopenia
Immune System Disease	Abnormality Of The Immune System Immune System And Disorders Immune System Diseases
Common Variable Immunodeficiency	Cvid Common Variable Agammaglobulinemia Acquired Hypogammaglobulinemia Common Variable Immune Deficiency Hypogamma-Globulinemia, Acquired Idiopathic Immunoglobulin Deficiency Primary Antibody Deficiency Primary Hypogammaglobulinemia Acquired Agammaglobulinemia Sporadic Hypogammaglobulinemia Common Variable Hypogamma-Globulinemia Immunoglobulin Deficiency, Late-Onset Common Variable Hypogammaglobulinemia Immunodeficiency, Common Variable
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Cloves Syndrome Clove Syndrome Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities Clove Syndrome, Somatic Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome CLOVE Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities Congenital Arteriovenous Malformation Arteriovenous Hemangioma Nevus Melanocytic Nevus Benign Melanocytic Nevus
Granulomatosis With Polyangiitis	GPA Wegener Granulomatosis Wegener Granulomatosis, Formerly Midline Granulomatosis Wg, Formerly Necrotizing Respiratory Granulomatosis Wg Wegeners Granulomatosis Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis
Immunodeficiency 14	Activated Pi3k-Delta Syndrome Apds Pasli Disease Imd14 Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Cowden Syndrome 1	Pten Hamartoma Tumor Syndrome Bannayan-Riley-Ruvalcaba Syndrome Lhermitte-Duclos Disease Bannayan-Zonana Syndrome Phts Riley-Smith Syndrome Bzs Ruvalcaba-Myhre-Smith Syndrome Multiple Hamartoma Syndrome Rmss Brrs Dysplastic Gangliocytoma Of The Cerebellum CWS1 Cs Cd Mham Pten Hamartoma Tumor Syndrome With Granular Cell Tumor Macrocephaly Multiple Lipomas And Hemangiomata Bannayan-Ruvalcaba-Riley Syndrome Myhre-Riley-Smith Syndrome LDD Cerebelloparenchymal Disorder Vi Hamartoma Syndrome, Multiple Bbrs Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata Macrocephaly, Multiple Lipomas, And Hemangiomata Macrocephaly Pseudopapilledema And Multiple Hemangiomas Ruvalcaba -Myhre-Smith Syndrome Ruvalcaba-Myhre Syndrome Cowden Disease Macrocephaly Pseudopapilledema And Multiple Hemangiomata Cerebellar Granule Cell Hypertrophy And Megalencephaly Cpd6 Lhermitte-Duclos Syndrome Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Short Syndrome	Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay Aarskog-Ose-Pande Syndrome Lipodystrophy, Partial, With Rieger Anomaly And Short Stature Lipodystrophy-Rieger Anomaly-Diabetes Syndrome Rieger Anomaly-Partial Lipodystrophy Syndrome Partial Lipodystrophy With Rieger Anomaly And Short Stature Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly And Teething Delay Growth Retardation-Rieger Anomaly Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay SHORTS
Immunodeficiency 14a, Autosomal Dominant	Activated Pi3k-Delta Syndrome Apds P110-Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency Pasli IMD14A Immunodeficiency 14 P110δ-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation Activated Pi3k-Delta Immunodeficiency Syndrome
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Mantle Cell Lymphoma	Lymphoma, Mantle Cell Lcm Mcl Mantle Zone Lymphoma Lymphoma Mantle-Cell Lymphoma, Mantle-Cell Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse Malignant Lymphoma - Lymphocytic, Intermediate Differentiation Diffuse Small Cleaved-Cell Lymphoma Diffuse Small Cleaved Cell Malignant Lymphoma Small Cleaved Cell Non-Hodgkin Lymphoma Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma Malignant Lymphomatous Polyposis Malignant Small Cell, Noncleaved, Diffuse Lymphoma Malignant Undifferentiated Cell, Non-Burkitt Lymphoma Cleaved Cell Lymphoma Small Cell Mantle Cell Lymphoma Small Cleaved Cell Malignant Lymphoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-161366	OMS14	Inhibitor	99.09%	Unkown
HY-RS02840	CLSTN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10529	PIK3CD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10530	Pik3cd Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10531	Pik3cd Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PIK3CD	VGNC	VGNC:32891
Felis catus	PIK3CD	VGNC	VGNC:68856
Rattus norvegicus	PIK3CD	RGD	RGD:1310990
Mus musculus	PIK3CD	MGD	MGI:1098211
Macaca mulatta	PIK3CD	VGNC	VGNC:75997
Canis familiaris	PIK3CD	VGNC	VGNC:44557
Others	PIK3CD	NCBI