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

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

Homo sapiens

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

Gene ID: 5293 | Gene type: protein coding

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

PIK3CD Protein Structure

PI3K_p85B

PI3K_p85B: PI3-kinase family, p85-binding domain (31 - 108)

PI3K_rbd

PI3K_rbd: PI3-kinase family, ras-binding domain (176 - 281)

PI3K_C2

PI3K_C2: Phosphoinositide 3-kinase C2 (338 - 466)

PI3Ka

PI3Ka: Phosphoinositide 3-kinase family, accessory domain (PIK domain) (502 - 682)

PI3_PI4_kinase

PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (775 - 989)

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  • 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

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

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