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PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta)
Gene
Gene SNPs Transcription factors Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5293
Gene nameGene Name - the full gene name approved by the HGNC.
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PIK3CD
SynonymsGene synonyms aliases
APDS, IMD14, IMD14A, IMD14B, P110DELTA, PI3K, ROCHIS, p110D
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
Gene SNPs Transcription factors Other IDs
SNP ID Visualize variation Clinical significance Consequence
rs28730670 C>A,G,T Pathogenic, benign, uncertain-significance Coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs397518423 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs587777389 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs587777390 T>C Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs1064795762 A>G Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT006777 hsa-miR-7-5p Luciferase reporter assay 22234835
MIRT006777 hsa-miR-7-5p qRT-PCR, Western blot 27391479
MIRT007097 hsa-miR-30a-5p Luciferase reporter assay, qRT-PCR, Western blot 23486085
MIRT047463 hsa-miR-10b-5p CLASH 23622248
MIRT053622 hsa-miR-125b-5p Luciferase reporter assay, qRT-PCR, Western blot 23160634
Transcription factors
Gene SNPs Transcription factors Other IDs
Transcription factor Regulation Reference
RUNX1 Unknown 19638627
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs
GO ID Ontology Definition Evidence Reference
GO:0001779 Process Natural killer cell differentiation TAS 20940048
GO:0001816 Process Cytokine production TAS 20940048
GO:0001938 Process Positive regulation of endothelial cell proliferation IGI 31915155
GO:0002250 Process Adaptive immune response TAS 17290298
GO:0002551 Process Mast cell chemotaxis TAS 20940048
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Transcription factors Other IDs
UniProt ID O00329
Protein name Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform (PI3-kinase subunit delta) (PI3K-delta) (PI3Kdelta) (PtdIns-3-kinase subunit delta) (EC 2.7.1.137) (EC 2.7.1.153) (Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta) (PtdIns-3-kinase subunit p110-delta) (p110delta)
Protein function Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:9235916). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Mediates immune responses. Plays a role in B-cell development, proliferation, migration, and function. Required for B-cell receptor (BCR) signaling. Mediates B-cell proliferation response to anti-IgM, anti-CD40 and IL4 stimulation. Promotes cytokine production in response to TLR4 and TLR9. Required for antibody class switch mediated by TLR9. Involved in the antigen presentation function of B-cells. Involved in B-cell chemotaxis in response to CXCL13 and sphingosine 1-phosphate (S1P). Required for proliferation, signaling and cytokine production of naive, effector and memory T-cells. Required for T-cell receptor (TCR) signaling. Mediates TCR signaling events at the immune synapse. Activation by TCR leads to antigen-dependent memory T-cell migration and retention to antigenic tissues. Together with PIK3CG participates in T-cell development. Contributes to T-helper cell expansion and differentiation. Required for T-cell migration mediated by homing receptors SELL/CD62L, CCR7 and S1PR1 and antigen dependent recruitment of T-cells. Together with PIK3CG is involved in natural killer (NK) cell development and migration towards the sites of inflammation. Participates in NK cell receptor activation. Plays a role in NK cell maturation and cytokine production. Together with PIK3CG is involved in neutrophil chemotaxis and extravasation. Together with PIK3CG participates in neutrophil respiratory burst. Plays important roles in mast-cell development and mast cell mediated allergic response. Involved in stem cell factor (SCF)-mediated proliferation, adhesion and migration. Required for allergen-IgE-induced degranulation and cytokine release. The lipid kinase activity is required for its biological function. Isoform 2 may be involved in stabilizing total RAS levels, resulting in increased ERK phosphorylation and increased PI3K activity.
PDB 5DXU , 5M6U , 5T8F , 5UBT , 5VLR , 6G6W , 6OCO , 6OCU , 6PYR , 6PYU , 7JIS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02192 PI3K_p85B
32 → 107
PI3-kinase family, p85-binding domain
 Family
PF00794 PI3K_rbd
175 → 281
PI3-kinase family, ras-binding domain
 Domain
PF00792 PI3K_C2
337 → 464
Phosphoinositide 3-kinase C2
 Domain
PF00613 PI3Ka
499 → 684
Phosphoinositide 3-kinase family, accessory domain (PIK domain)
 Family
PF00454 PI3_PI4_kinase
773 → 991
Phosphatidylinositol 3- and 4-kinase
 Family
Sequence 
MPPGVDCPMEFWTKEENQSVVVDFLLPTGVYLNFPVSRNANLSTIKQLLWHRAQYEPLFH
MLSGPEAYVFTCINQTAEQQELEDEQRRLCDVQPFLPVLRLVAREGDRVKKLINSQISLL
IGKGLHEFDSLCDPEVNDFRAKMCQFCEEAAARRQQLGWEAWLQYSFPLQLEPSAQTWGP
GTLRLPNRALLVNVKFEGSEESFTFQVSTKDVPLALMACALRKKATVFRQPLVEQPEDYT
LQVNGRHEYLYGSYPLCQFQYICSCLHSGLTPHLTMVHSSSILAMRDEQSNPAPQVQKPR
AKPPPIPAKKPSSVSLWSLEQPFRIELIQGSKVNADERMKLVVQAGLFHGNEMLCKTVSS
SEVSVCSEPVWKQRLEFDINICDLPRMARLCFALYAVIEKAKKARSTKKKSKKADCPIAW
ANLMLFDYKDQLKTGERCLYMWPSVPDEKGELLNPTGTVRSNPNTDSAAALLICLPEVAP
HPVYYPALEKILELGRHSECVHVTEEEQLQLREILERRGSGELYEHEKDLVWKLRHEVQE
HFPEALARLLLVTKWNKHEDVAQMLYLLCSWPELPVLSALELLDFSFPDCHVGSFAIKSL
RKLTDDELFQYLLQLVQVLKYESYLDCELTKFLLDRALANRKIGHFLFWHLRSEMHVPSV
ALRFGLILEAYCRGSTHHMKVLMKQGEALSKLKALNDFVKLSSQKTPKPQTKELMHLCMR
QEAYLEALSHLQSPLDPSTLLAEVCVEQCTFMDSKMKPLWIMYSNEEAGSGGSVGIIFKN
GDDLRQDMLTLQMIQLMDVLWKQEGLDLRMTPYGCLPTGDRTGLIEVVLRSDTIANIQLN
KSNMAATAAFNKDALLNWLKSKNPGEALDRAIEEFTLSCAGYCVATYVLGIGDRHSDNIM
IRESGQLFHIDFGHFLGNFKTKFGINRERVPFILTYDFVHVIQQGKTNNSEKFERFRGYC
ERAYTILRRHGLLFLHLFALMRAAGLPELSCSKDIQYLKDSLALGKTEEEALKHFRVKFN
EALRESWKTKVNWLAHNVSKDNRQ
Sequence length 1044
Interactions View interactions

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