ENSG00000171608


Homo sapiens

Features
Gene ID: ENSG00000171608
  
Biological name :PIK3CD
  
Synonyms : O00329 / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta / PIK3CD
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.22
Gene start: 9651732
Gene end: 9729114
  
Corresponding Affymetrix probe sets: 203879_at (Human Genome U133 Plus 2.0 Array)   211230_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000366563
Ensembl peptide - ENSP00000446444
Ensembl peptide - ENSP00000486826
Ensembl peptide - ENSP00000354410
Ensembl peptide - ENSP00000443811
NCBI entrez gene - 5293     See in Manteia.
OMIM - 602839
RefSeq - XM_017001485
RefSeq - NM_001350234
RefSeq - NM_005026
RefSeq - XM_017001480
RefSeq - XM_017001481
RefSeq - XM_017001482
RefSeq - XM_017001483
RefSeq - XM_017001484
RefSeq - XM_006710687
RefSeq - XM_006710689
RefSeq - XM_017001476
RefSeq - XM_017001477
RefSeq - XM_017001478
RefSeq - XM_017001479
RefSeq Peptide - NP_001337163
RefSeq Peptide - NP_005017
swissprot - O00329
swissprot - Q5SR50
swissprot - F8W9P4
Ensembl - ENSG00000171608
  
Related genetic diseases (OMIM): 615513 - Immunodeficiency 14, 615513
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pik3cdENSDARG00000003250Danio rerio
 PIK3CDENSGALG00000002583Gallus gallus
 O35904ENSMUSG00000039936Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit betaENSG0000005138257
P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alphaENSG0000012187941
P48736 / PIK3CG / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gammaENSG0000010585131
O00443 / PIK3C2A / phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alphaENSG0000001140527
O00750 / PIK3C2B / phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 betaENSG0000013305626
O75747 / PIK3C2G / phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gammaENSG0000013914423
PIK3C3 / Q8NEB9 / phosphatidylinositol 3-kinase catalytic subunit type 3ENSG0000007814219


Protein motifs (from Interpro)
Interpro ID Name
 IPR000341  Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain
 IPR000403  Phosphatidylinositol 3-/4-kinase, catalytic domain
 IPR001263  Phosphoinositide 3-kinase, accessory (PIK) domain
 IPR002420  Phosphatidylinositol 3-kinase, C2 domain
 IPR003113  Phosphatidylinositol 3-kinase adaptor-binding (PI3K ABD) domain
 IPR008290  Phosphatidylinositol 3-kinase, Vps34 type
 IPR011009  Protein kinase-like domain superfamily
 IPR015433  Phosphatidylinositol kinase
 IPR016024  Armadillo-type fold
 IPR018936  Phosphatidylinositol 3/4-kinase, conserved site
 IPR029071  Ubiquitin-like domain superfamily
 IPR035892  C2 domain superfamily
 IPR036940  Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001779 natural killer cell differentiation TAS
 biological_processGO:0001816 cytokine production TAS
 biological_processGO:0002250 adaptive immune response TAS
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002551 mast cell chemotaxis TAS
 biological_processGO:0002679 respiratory burst involved in defense response TAS
 biological_processGO:0006468 protein phosphorylation NAS
 biological_processGO:0006661 phosphatidylinositol biosynthetic process TAS
 biological_processGO:0006935 chemotaxis IEA
 biological_processGO:0006954 inflammatory response TAS
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007411 axon guidance TAS
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0010818 T cell chemotaxis TAS
 biological_processGO:0014065 phosphatidylinositol 3-kinase signaling IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030101 natural killer cell activation TAS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030168 platelet activation IBA
 biological_processGO:0030217 T cell differentiation TAS
 biological_processGO:0030335 positive regulation of cell migration IMP
 biological_processGO:0030593 neutrophil chemotaxis TAS
 biological_processGO:0033031 positive regulation of neutrophil apoptotic process IMP
 biological_processGO:0035747 natural killer cell chemotaxis TAS
 biological_processGO:0035754 B cell chemotaxis TAS
 biological_processGO:0036092 phosphatidylinositol-3-phosphate biosynthetic process IEA
 biological_processGO:0042110 T cell activation TAS
 biological_processGO:0042113 B cell activation TAS
 biological_processGO:0043303 mast cell degranulation TAS
 biological_processGO:0045087 innate immune response TAS
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0048015 phosphatidylinositol-mediated signaling IEA
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0050853 B cell receptor signaling pathway TAS
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0060374 mast cell differentiation TAS
 biological_processGO:0072672 neutrophil extravasation TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0005942 phosphatidylinositol 3-kinase complex NAS
 cellular_componentGO:0042629 mast cell granule IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016303 1-phosphatidylinositol-3-kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0035004 phosphatidylinositol 3-kinase activity IEA
 molecular_functionGO:0035005 1-phosphatidylinositol-4-phosphate 3-kinase activity IBA
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS


Pathways (from Reactome)
Pathway description
PIP3 activates AKT signaling
Synthesis of PIPs at the plasma membrane
Constitutive Signaling by Aberrant PI3K in Cancer
Interleukin-3, Interleukin-5 and GM-CSF signaling
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
RET signaling
Interleukin receptor SHC signaling
Regulation of signaling by CBL
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0002110 Bronchiectasis 
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 HP:0002716 Lymphadenopathy 
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 HP:0002721 Immunodeficiency 
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 HP:0004313 Reduced immunoglobulin levels 
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 HP:0005425 Recurrent sinopulmonary infections 
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 HP:0100658 Cellulitis 
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 HP:0410018 Recurrent ear infections "Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections." [orcid.org/0000-0001-5208-3432]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000113525 IL5 / P05113 / interleukin 5  / complex / reaction
 ENSG00000125650 PSPN / O60542 / persephin  / complex
 ENSG00000091181 IL5RA / Q01344 / interleukin 5 receptor subunit alpha  / complex / reaction
 ENSG00000100368 CSF2RB / P32927 / colony stimulating factor 2 receptor beta common subunit  / complex / reaction
 ENSG00000109458 GAB1 / Q13480 / GRB2 associated binding protein 1  / complex / reaction
 ENSG00000110395 CBL / P22681 / Cbl proto-oncogene  / complex / reaction
 ENSG00000168546 GFRA2 / O00451 / GDNF family receptor alpha 2  / complex
 ENSG00000164399 IL3 / P08700 / interleukin 3  / complex / reaction
 ENSG00000164400 CSF2 / P04141 / colony stimulating factor 2  / complex / reaction
 ENSG00000171119 NRTN / Q99748 / neurturin  / complex
 ENSG00000146013 GFRA3 / O60609 / GDNF family receptor alpha 3  / complex
 ENSG00000125861 GFRA4 / Q9GZZ7 / GDNF family receptor alpha 4  / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000165731 RET / P07949 / ret proto-oncogene  / complex
 ENSG00000185291 IL3RA / P26951 / interleukin 3 receptor subunit alpha  / complex / reaction
 ENSG00000168621 GDNF / P39905 / glial cell derived neurotrophic factor  / complex
 ENSG00000155629 Q6ZUJ8 / PIK3AP1 / phosphoinositide-3-kinase adaptor protein 1  / reaction / complex
 ENSG00000033327 GAB2 / Q9UQC2 / GRB2 associated binding protein 2  / complex / reaction
 ENSG00000198223 CSF2RA / P15509 / colony stimulating factor 2 receptor alpha subunit  / complex / reaction
 ENSG00000164924 YWHAZ / P63104 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta  / complex / reaction
 ENSG00000151892 GFRA1 / P56159 / GDNF family receptor alpha 1  / complex
 ENSG00000187266 EPOR / P19235 / erythropoietin receptor  / complex / reaction
 ENSG00000105647 O00459 / PIK3R2 / phosphoinositide-3-kinase regulatory subunit 2  / complex
 ENSG00000130427 EPO / P01588 / erythropoietin  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / reaction
 ENSG00000117461 PIK3R3 / Q92569 / phosphoinositide-3-kinase regulatory subunit 3  / complex
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / reaction
 ENSG00000141968 VAV1 / P15498 / vav guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000177455 CD19 / P15391 / CD19 molecule  / complex / reaction
 ENSG00000171608 O00329 / PIK3CD / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta  / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000185950 IRS2 / Q9Y4H2 / insulin receptor substrate 2  / complex / reaction
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000254087 LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000117407 ARTN / Q5T4W7 / artemin  / complex






 

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