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Aliases for PIK3CD Gene

Aliases for PIK3CD Gene

  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase, Catalytic Subunit Delta 2 3
  • PtdIns-3-Kinase Subunit P110-Delta 3 4
  • Phosphoinositide-3-Kinase C 2 3
  • EC 2.7.1.153 4 63
  • P110DELTA 3 4
  • PI3Kdelta 3 4
  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase 110 KDa Catalytic Subunit Delta 3
  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta Isoform 3
  • Phosphatidylinositol 4,5-Bisphosphate 3-Kinase 110 KDa Catalytic Subunit Delta 4
  • Phosphoinositide-3-Kinase, Catalytic, Delta Polypeptide Variant P37delta 3
  • Phosphoinositide-3-Kinase, Catalytic, Delta Polypeptide 2
  • Phosphatidylinositol 3-Kinase 2
  • PI3-Kinase P110 Subunit Delta 3
  • PtdIns-3-Kinase Subunit Delta 4
  • PI3-Kinase Subunit Delta 4
  • Delta Polypeptide 2
  • PI3K-Delta 4
  • Catalytic 2
  • EC 2.7.1 63
  • IMD14 3
  • P110D 3
  • PI3K 3
  • APDS 3

External Ids for PIK3CD Gene

Previous GeneCards Identifiers for PIK3CD Gene

  • GC01P009715
  • GC01P009555
  • GC01P009321
  • GC01P009421
  • GC01P009646
  • GC01P008867

Summaries for PIK3CD Gene

Entrez Gene Summary for PIK3CD 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]

GeneCards Summary for PIK3CD Gene

PIK3CD (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase, Catalytic Subunit Delta) is a Protein Coding gene. Diseases associated with PIK3CD include immunodeficiency 14 and activated pik3-delta syndrome. Among its related pathways are PI3K-Akt signaling pathway and PI3K/AKT Signaling in Cancer. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and kinase activity. An important paralog of this gene is PIK3CB.

UniProtKB/Swiss-Prot for PIK3CD Gene

  • Phosphoinositide-3-kinase (PI3K) that phosphorylates PftdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). 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. Have 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. Have 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.

Tocris Summary for PIK3CD Gene

  • PI 3-Kinases (phosphoinositide 3-kinases, PI 3-Ks) are a family of lipid kinases capable of phosphorylating the 3'OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation and survival.

Gene Wiki entry for PIK3CD Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3CD Gene

Genomics for PIK3CD Gene

Regulatory Elements for PIK3CD Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PIK3CD Gene

Chromosome:
1
Start:
9,629,889 bp from pter
End:
9,729,114 bp from pter
Size:
99,226 bases
Orientation:
Plus strand

Genomic View for PIK3CD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PIK3CD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3CD Gene

Proteins for PIK3CD Gene

  • Protein details for PIK3CD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00329-PK3CD_HUMAN
    Recommended name:
    Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform
    Protein Accession:
    O00329
    Secondary Accessions:
    • A6NCG0
    • G1FFP1
    • O15445
    • Q5SR49

    Protein attributes for PIK3CD Gene

    Size:
    1044 amino acids
    Molecular mass:
    119479 Da
    Quaternary structure:
    • Heterodimer of a catalytic subunit PIK3CD and a p85 regulatory subunit (PIK3R1, PIK3R2 or PIK3R3). Interacts with ERAS (By similarity). Interacts with HRAS.
    Miscellaneous:
    • IC87114 inhibitor reduces passive cutaneous anaphylaxis, attenuates allergic airway inflammation and hyperresponsiveness and allergen induced rhinitis response. Inhibitors may have therapeutic potential for the treatment of immune system-mediated diseases such as auto-immune diseases, inflammation and allergy (PubMed:20940048; PubMed:17290298)

    Alternative splice isoforms for PIK3CD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIK3CD Gene

Proteomics data for PIK3CD Gene at MOPED

Post-translational modifications for PIK3CD Gene

  • Autophosphorylation on Ser-1039 results in the almost complete inactivation of the lipid kinase activity.
  • Ubiquitination at Lys 46 and Lys 841
  • Modification sites at PhosphoSitePlus

Other Protein References for PIK3CD Gene

Antibody Products

  • R&D Systems Antibodies for PIK3CD (PI 3-Kinase p110 delta)

Domains & Families for PIK3CD Gene

Graphical View of Domain Structure for InterPro Entry

O00329

UniProtKB/Swiss-Prot:

PK3CD_HUMAN :
  • Contains 1 C2 PI3K-type domain.
  • Belongs to the PI3/PI4-kinase family.
Domain:
  • Contains 1 C2 PI3K-type domain.
  • Contains 1 PI3K-ABD domain.
  • Contains 1 PI3K-RBD domain.
  • Contains 1 PI3K/PI4K domain.
  • Contains 1 PIK helical domain.
Family:
  • Belongs to the PI3/PI4-kinase family.
genes like me logo Genes that share domains with PIK3CD: view

Function for PIK3CD Gene

Molecular function for PIK3CD Gene

GENATLAS Biochemistry:
phosphatidylinositol 3-kinase,catalytic,class 1,delta,subunit,expressed in leukocytes,binding p85 adaptor proteins (PIK3R1,PIK3R2,PIK3R3) and associating with activated receptor protein-tyrosine kinases,regulating cellular responses
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate = ADP + 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by growth factors and cytokine receptors through a tyrosine-kinase-dependent mechanism. Activated by RAS. IC87114 inhibits lipid kinase activity and is selective in cells at doses up to 5-10 uM. IC87114 blocks T-cell receptor signaling in naive and memory T-cells and reduces cytokine production by memory T-cells.
UniProtKB/Swiss-Prot Function:
Phosphoinositide-3-kinase (PI3K) that phosphorylates PftdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). 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. Have 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. Have 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.

Enzyme Numbers (IUBMB) for PIK3CD Gene

Gene Ontology (GO) - Molecular Function for PIK3CD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 22020336
GO:0005524 ATP binding IEA --
GO:0016303 1-phosphatidylinositol-3-kinase activity NAS 9235916
GO:0016773 phosphotransferase activity, alcohol group as acceptor --
genes like me logo Genes that share ontologies with PIK3CD: view
genes like me logo Genes that share phenotypes with PIK3CD: view

Animal Models for PIK3CD Gene

MGI Knock Outs for PIK3CD:

Animal Model Products

miRNA for PIK3CD Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIK3CD

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PIK3CD Gene

Localization for PIK3CD Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIK3CD Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIK3CD Gene COMPARTMENTS Subcellular localization image for PIK3CD gene
Compartment Confidence
cytosol 4
lysosome 4
vacuole 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PIK3CD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005942 phosphatidylinositol 3-kinase complex NAS 9113989
GO:0042629 mast cell granule TAS 20940048
genes like me logo Genes that share ontologies with PIK3CD: view

Pathways & Interactions for PIK3CD Gene

SuperPathways for PIK3CD Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 PI3K/AKT Signaling in Cancer
3 Translation Insulin regulation of translation
4 IL-7 Signaling Pathways
5 Development HGF signaling pathway
genes like me logo Genes that share pathways with PIK3CD: view

PCR Array Products

UniProtKB/Swiss-Prot O00329-PK3CD_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylinositol phosphate biosynthesis

SIGNOR curated interactions for PIK3CD Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PIK3CD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001779 natural killer cell differentiation TAS 20940048
GO:0001782 B cell homeostasis IEA --
GO:0001816 cytokine production TAS 20940048
GO:0002250 adaptive immune response TAS 17290298
GO:0002551 mast cell chemotaxis TAS 20940048
genes like me logo Genes that share ontologies with PIK3CD: view

Drugs & Compounds for PIK3CD Gene

(77) Drugs for PIK3CD Gene - From: ApexBio, DGIdb, HMDB, DrugBank, NovoSeek, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Nutra Activator, Target 317
Miltefosine Approved Pharma PI3K/Akt inhibitor 32
Idelalisib Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
2-((9H-PURIN-6-YLTHIO)METHYL)-5-CHLORO-3-(2-METHOXYPHENYL)QUINAZOLIN-4(3H)-ONE Experimental Pharma Target 0

(387) Additional Compounds for PIK3CD Gene - From: HMDB, NovoSeek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(16:0/16:0)
PI(16:0/16:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:1)
  • Phosphatidylinositol(16:0/16:1n7)
  • Phosphatidylinositol(16:0/16:1w7)
genes like me logo Genes that share compounds with PIK3CD: view

Drug Products

Transcripts for PIK3CD Gene

Unigene Clusters for PIK3CD Gene

Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIK3CD

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3CD Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a ·
SP1: - - - - - - - -
SP2: - - - -
SP3: - - -
SP4:
SP5: - -
SP6: - - - -
SP7: - -
SP8:
SP9: -
SP10:
SP11:

ExUns: 15b ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:

Relevant External Links for PIK3CD Gene

GeneLoc Exon Structure for
PIK3CD
ECgene alternative splicing isoforms for
PIK3CD

Expression for PIK3CD Gene

mRNA expression in normal human tissues for PIK3CD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIK3CD Gene

This gene is overexpressed in Whole Blood (x16.9).

Protein differential expression in normal tissues from HIPED for PIK3CD Gene

This gene is overexpressed in Lymph node (36.6), Peripheral blood mononuclear cells (7.3), and Tlymphocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIK3CD Gene



SOURCE GeneReport for Unigene cluster for PIK3CD Gene Hs.518451

mRNA Expression by UniProt/SwissProt for PIK3CD Gene

O00329-PK3CD_HUMAN
Tissue specificity: Isoform 2 is expressed in normal thymus, lung and spleen tissues, and is detected at low levels in normal lysates from colon and ovarian biopsies, at elevated levels in lysates from colorectal tumors and is abundantly expressed in some ovarian tumors (at protein level). Both isoform 1 and isoform 2 are widely expressed. Isoform 1 is expressed predominantly in leukocytes.
genes like me logo Genes that share expression patterns with PIK3CD: view

Protein tissue co-expression partners for PIK3CD Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PIK3CD Gene

This gene was present in the common ancestor of animals.

Orthologs for PIK3CD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIK3CD 35
  • 90.52 (n)
  • 94.35 (a)
PIK3CD 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIK3CD 35
  • 91.25 (n)
  • 95.5 (a)
PIK3CD 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pik3cd 35
  • 88.57 (n)
  • 94.64 (a)
Pik3cd 16
Pik3cd 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIK3CD 35
  • 99.39 (n)
  • 99.71 (a)
PIK3CD 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pik3cd 35
  • 83.24 (n)
  • 86.72 (a)
oppossum
(Monodelphis domestica)
Mammalia PIK3CD 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3CD 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIK3CD 35
  • 76.89 (n)
  • 82.17 (a)
PIK3CD 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIK3CD 36
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pik3cd 35
  • 68.92 (n)
  • 69.91 (a)
zgc63473 35
pik3cd 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pi3K92E 37
  • 39 (a)
Pi3K92E 35
  • 53.18 (n)
  • 40.74 (a)
Pi3K92E 36
  • 38 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000018 35
  • 55.37 (n)
  • 43.03 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for PIK3CD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PIK3CD Gene

ENSEMBL:
Gene Tree for PIK3CD (if available)
TreeFam:
Gene Tree for PIK3CD (if available)

Paralogs for PIK3CD Gene

Paralogs for PIK3CD Gene

Pseudogenes.org Pseudogenes for PIK3CD Gene

genes like me logo Genes that share paralogs with PIK3CD: view

Variants for PIK3CD Gene

Sequence variations from dbSNP and Humsavar for PIK3CD Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1057483 -- 9,728,204(+) GTGAG(A/T)GTGCT utr-variant-3-prime, nc-transcript-variant
rs1135424 -- 9,721,830(+) GGCAG(C/G)ACCCA reference, missense, nc-transcript-variant
rs1135426 -- 9,727,450(+) TGCCT(C/T)GATCC utr-variant-3-prime, nc-transcript-variant
rs1135427 -- 9,727,782(+) GAAGC(G/T)AATAC utr-variant-3-prime, nc-transcript-variant
rs1141402 -- 9,728,095(+) CCACC(A/G)CGCCC utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for PIK3CD Gene

Variant ID Type Subtype PubMed ID
nsv871610 CNV Gain 21882294
nsv508847 CNV Insertion 20534489
nsv832203 CNV Loss 17160897
esv259473 OTHER Complex 20981092
nsv160151 CNV Loss 16902084

Variation tolerance for PIK3CD Gene

Residual Variation Intolerance Score: 2.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.55; 55.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIK3CD Gene

HapMap Linkage Disequilibrium report
PIK3CD
Human Gene Mutation Database (HGMD)
PIK3CD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3CD Gene

Disorders for PIK3CD Gene

MalaCards: The human disease database

(4) MalaCards diseases for PIK3CD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 14
  • activated pi3k-delta syndrome, apds
activated pik3-delta syndrome
  • apds
leukemia, acute myelomonocytic, somatic, somatic
  • leukemia, juvenile myelomonocytic, somatic
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
- elite association

UniProtKB/Swiss-Prot

PK3CD_HUMAN
  • Activated PI3K-delta syndrome (APDS) [MIM:615513]: A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses. {ECO:0000269 PubMed:24136356}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIK3CD

Genetic Association Database (GAD)
PIK3CD
Human Genome Epidemiology (HuGE) Navigator
PIK3CD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIK3CD
genes like me logo Genes that share disorders with PIK3CD: view

No data available for Genatlas for PIK3CD Gene

Publications for PIK3CD Gene

  1. P110delta, a novel phosphoinositide 3-kinase in leukocytes. (PMID: 9113989) Vanhaesebroeck B.A.M. … Waterfield M.D. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 23 67
  2. Role of the PI3K/AKT and mTOR signaling pathways in acute myeloid leukemia. (PMID: 19951971) Park S. … Bouscary D. (Haematologica 2010) 23 67
  3. Isoform-specific phosphoinositide 3-kinase inhibitors exert distinct effects in solid tumors. (PMID: 20103642) Edgar K.A. … Belvin M. (Cancer Res. 2010) 23 67
  4. Evidence for a role for the p110-alpha isoform of PI3K in skeletal function. (PMID: 19931507) Grey A. … Shepherd P. (Biochem. Biophys. Res. Commun. 2010) 23 67
  5. Pooled analysis of phosphatidylinositol 3-kinase pathway variants and risk of prostate cancer. (PMID: 20197460) Koutros S. … Berndt S.I. (Cancer Res. 2010) 23 67

Products for PIK3CD Gene

Sources for PIK3CD Gene

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