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

Gene
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), th
SNPsSNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT006777 hsa-miR-7-5p Luciferase reporter assay 22234835
MIRT006777 hsa-miR-7-5p Luciferase reporter assay 22234835
MIRT006777 hsa-miR-7-5p Luciferase reporter assay 22234835
MIRT006777 hsa-miR-7-5p Luciferase reporter assay 22234835
MIRT006777 hsa-miR-7-5p Luciferase reporter assay 22234835
Transcription factors
Transcription factor Regulation Reference
RUNX1 Unknown 19638627
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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.
MIM
HGNC
e!Ensembl
Protein
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 cataly
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
PDB 5DXU , 5M6U , 5T8F , 5UBT , 5VLR , 6G6W , 6OCO , 6OCU , 6PYR , 6PYU , 7JIS , 7LM2 , 7LQ1 , 8BCY , 8S3R , 9GCF , 9GDI
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
MLSGPEAYVFTCINQTAEQQELEDEQRRLCDVQPFLPVLRLVAREGD
RVKKLINSQISLL
IGKGLHEFDSLCDPEVNDFRAKMCQFCEEAAARRQQLGWEAWLQYSFPLQLEPSAQTWGP
GTLRLPNRALLVNVKFEGSEESFTFQVSTKDVPLALMACALRKKATVFRQPLVEQPEDYT
LQVNGRHEYLYGSYPLCQFQYICSCLHSGLTPHLTMVHSSS
ILAMRDEQSNPAPQVQKPR
AKPPPIPAKKPSSVSLWSLEQPFRIELIQGSKVNADERMKLVVQAGLFHGNEMLCKTVSS
SEVSVCSEPVWKQRLEFDINICDLPRMARLCFALYAVIEKAKKARSTKKKSKKADCPIAW
ANLMLFDYKDQLKTGERCLYMWPSVPDEKGELLNPTGTVRSNPN
TDSAAALLICLPEVAP
HPVYYPALEKILELGRHSECVHVTEEEQLQLREILERRGSGELYEHEKDLVWKLRHEVQE
HFPEALARLLLVTKWNKHEDVAQMLYLLCSWPELPVLSALELLDFSFPDCHVGSFAIKSL
RKLTDDELFQYLLQLVQVLKYESYLDCELTKFLLDRALANRKIGHFLFWHLRSEMHVPSV
ALRFGLILEAYCRGSTHHMKVLMK
QGEALSKLKALNDFVKLSSQKTPKPQTKELMHLCMR
QEAYLEALSHLQSPLDPSTLLAEVCVEQCTFMDSKMKPLWIMYSNEEAGSGGSVGIIFKN
GDDLRQDMLTLQMIQLMDVLWKQEGLDLRMTPYGCLPTGDRTGLIEVVLRSDTIANIQLN
KSNMAATAAFNKDALLNWLKSKNPGEALDRAIEEFTLSCAGYCVATYVLGIGDRHSDNIM
IRESGQLFHIDFGHFLGNFKTKFGINRERVPFILTYDFVHVIQQGKTNNSEKFERFRGYC
ERAYTILRRHGLLFLHLFALMRAAGLPELSC
SKDIQYLKDSLALGKTEEEALKHFRVKFN
EALRESWKTKVNWLAHNVSKDNRQ
Sequence length 1044
Interactions View interactions

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