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Aliases for PIK3CD Gene

Aliases for PIK3CD Gene

  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta 2 3 5
  • PtdIns-3-Kinase Subunit P110-Delta 3 4
  • Phosphoinositide-3-Kinase C 2 3
  • PI3Kdelta 3 4
  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta Short Variant 8/20 3
  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta Short Variant 20 3
  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta Short Variant 8 3
  • Phosphatidylinositol 4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta Isoform 3
  • 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
  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase, Catalytic Subunit Delta 2
  • Phosphatidylinositol 3-Kinase, Catalytic, Delta Polypeptide 2
  • Phosphoinositide-3-Kinase, Catalytic, Delta Polypeptide 2
  • PI3-Kinase P110 Subunit Delta 3
  • PtdIns-3-Kinase Subunit Delta 4
  • PI3-Kinase Subunit Delta 4
  • EC 2.7.1.153 4
  • PI3K-Delta 4
  • P110DELTA 3
  • P110delta 4
  • IMD14 3
  • P110D 3
  • APDS 3
  • PI3K 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 Hepatosplenic T-Cell Lymphoma. Among its related pathways are mTOR Pathway and Focal Adhesion. Gene Ontology (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

Additional gene information for PIK3CD Gene

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

Genomics for PIK3CD Gene

GeneHancer (GH) Regulatory Elements for PIK3CD Gene

Promoters and enhancers for PIK3CD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J009625 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 667.2 -1.1 -1116 6.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A ZNF2 IRF4 YY1 ZNF213 E2F8 PIK3CD LOC105376712 SLC25A33 RERE TMEM201
GH01J009651 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.3 +24.1 24062 5.5 HDGF PKNOX1 FUS RB1 YBX1 BATF ZNF335 EGR1 SCRT2 ETV6 PIK3CD-AS1 PIK3CD CTNNBIP1
GH01J009665 Promoter/Enhancer 1 EPDnew dbSUPER 650.3 +34.2 34187 0.1 SMARCA5 BCOR ZNF146 ZNF580 RPL26P7 PIK3CD ENSG00000223989 CTNNBIP1 PIK3CD-AS2
GH01J009703 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +75.0 74962 1.7 CTCF POLR2A EBF1 RUNX3 SPI1 PIK3CD UBE4B RBP7 PIK3CD-AS2 MZT1P1
GH01J009278 Enhancer 1.2 Ensembl ENCODE dbSUPER 5 -349.6 -349572 3.8 ELF3 ARID4B SIN3A RARA EGR1 RCOR1 FOS EGR2 CEBPB PPARG SPSB1 SLC2A5 H6PD PIK3CD PIR55180
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIK3CD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIK3CD gene promoter:
  • FOXO3b
  • FOXO3a
  • FOXO3
  • GATA-3
  • Pax-2
  • Pax-2a
  • NF-kappaB2
  • NF-kappaB1
  • NF-kappaB
  • Pax-5

Genomic Locations for PIK3CD Gene

Genomic Locations for PIK3CD Gene
chr1:9,629,889-9,729,114
(GRCh38/hg38)
Size:
99,226 bases
Orientation:
Plus strand
chr1:9,711,790-9,789,172
(GRCh37/hg19)
Size:
77,383 bases
Orientation:
Plus strand

Genomic View for PIK3CD Gene

Genes around PIK3CD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIK3CD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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).

    Three dimensional structures from OCA and Proteopedia for PIK3CD Gene

    Alternative splice isoforms for PIK3CD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIK3CD Gene

Post-translational modifications for PIK3CD Gene

  • Autophosphorylation on Ser-1039 results in the almost complete inactivation of the lipid kinase activity.
  • Ubiquitination at Lys841 and isoforms=246
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PIK3CD Gene

Domains & Families for PIK3CD Gene

Gene Families for PIK3CD Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O00329

UniProtKB/Swiss-Prot:

PK3CD_HUMAN :
  • Belongs to the PI3/PI4-kinase family.
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

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.
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.
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

Enzyme Numbers (IUBMB) for PIK3CD Gene

Phenotypes From GWAS Catalog for PIK3CD Gene

Gene Ontology (GO) - Molecular Function for PIK3CD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 21827948
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IDA,IEA 25327288
GO:0016303 1-phosphatidylinositol-3-kinase activity IEA,NAS 9235916
genes like me logo Genes that share ontologies with PIK3CD: view
genes like me logo Genes that share phenotypes with PIK3CD: view

Human Phenotype Ontology for PIK3CD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIK3CD Gene

MGI Knock Outs for PIK3CD:

Animal Model Products

  • Taconic Biosciences Mouse Models for PIK3CD

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3CD

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIK3CD gene
Compartment Confidence
cytosol 5
plasma membrane 4
lysosome 2
extracellular 1
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIK3CD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS,IBA --
GO:0005942 phosphatidylinositol 3-kinase complex NAS 9113989
genes like me logo Genes that share ontologies with PIK3CD: view

Pathways & Interactions for PIK3CD Gene

SuperPathways for PIK3CD Gene

SuperPathway Contained pathways
1 RET signaling
2 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
3 Regulation of lipid metabolism Insulin signaling-generic cascades
4 PI3K/AKT activation
5 Endometrial cancer
genes like me logo Genes that share pathways with PIK3CD: view

Pathways by source for PIK3CD Gene

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:0001816 cytokine production TAS 20940048
GO:0002250 adaptive immune response TAS 17290298
GO:0002376 immune system process IEA --
GO:0002551 mast cell chemotaxis TAS 20940048
genes like me logo Genes that share ontologies with PIK3CD: view

Drugs & Compounds for PIK3CD Gene

(97) Drugs for PIK3CD Gene - From: DrugBank, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copanlisib Approved, Investigational Pharma Target, inhibitor 0
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Caffeine Approved Nutra Antagonist, Activator, Target, inhibitor 434
Miltefosine Approved, Investigational Pharma PI3K/Akt inhibitor 36
Idelalisib Approved Pharma 51

(385) 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
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
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, 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(32:0)
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)

(5) Tocris Compounds for PIK3CD Gene

Compound Action Cas Number
3-Methyladenine Class III PI 3-kinase inhibitor; also inhibits autophagy 5142-23-4
LY 294002 hydrochloride Prototypical PI 3-kinase inhibitor; also inhibits other kinases 934389-88-5
PI 103 hydrochloride Inhibitor of PI 3-kinase, mTOR and DNA-PK 371935-79-4
Quercetin Non-selective PI 3-kinase inhibitor 117-39-5
Wortmannin Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 19545-26-7
genes like me logo Genes that share compounds with PIK3CD: view

Transcripts for PIK3CD Gene

Unigene Clusters for PIK3CD Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3CD

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PIK3CD Gene



Protein tissue co-expression partners for PIK3CD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIK3CD Gene:

PIK3CD

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.

Evidence on tissue expression from TISSUES for PIK3CD Gene

  • Blood(4.5)
  • Nervous system(2.3)
  • Heart(2.2)
  • Spleen(2.2)
  • Lymph node(2.1)
  • Muscle(2.1)
  • Bone marrow(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIK3CD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • lymphatic
  • respiratory
  • skeleton
Regions:
Head and neck:
  • face
  • head
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
Abdomen:
  • spleen
Limb:
  • lower limb
General:
  • blood
  • bone marrow
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PIK3CD: view

Orthologs for PIK3CD Gene

This gene was present in the common ancestor of animals.

Orthologs for PIK3CD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIK3CD 34 33
  • 99.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PIK3CD 34 33
  • 91.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PIK3CD 34 33
  • 90.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pik3cd 16 34 33
  • 88.57 (n)
oppossum
(Monodelphis domestica)
Mammalia PIK3CD 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pik3cd 33
  • 83.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3CD 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIK3CD 34 33
  • 76.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIK3CD 34
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pik3cd 34 33
  • 68.92 (n)
OneToOne
zgc63473 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000018 33
  • 55.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pi3K92E 34 35 33
  • 53.18 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
Species where no ortholog for PIK3CD was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PIK3CD: view image

Paralogs for PIK3CD Gene

Paralogs for PIK3CD Gene

(7) SIMAP similar genes for PIK3CD Gene using alignment to 5 proteins:

  • PK3CD_HUMAN
  • A7E2E0_HUMAN
  • B7ZM44_HUMAN
  • F5H807_HUMAN
  • Q5SR50_HUMAN

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 Variation AA Info Type
rs113176101 benign, Immunodeficiency 14 9,715,846(+) C/T intron_variant
rs139848768 benign, Immunodeficiency 14 9,722,328(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs140468930 benign, Immunodeficiency 14 9,721,585(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs142285826 benign, Immunodeficiency 14 9,715,914(+) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs143168081 benign, Immunodeficiency 14 9,724,858(+) C/G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv3302499 CNV tandem duplication 20981092
esv3377271 CNV duplication 20981092
esv3585184 CNV loss 21293372
esv3585185 CNV gain 21293372
esv3585186 CNV loss 21293372
nsv1077042 CNV deletion 25765185
nsv1118099 CNV deletion 24896259
nsv1126975 CNV deletion 24896259
nsv1137726 CNV deletion 24896259
nsv160151 CNV deletion 16902084
nsv508847 CNV insertion 20534489
nsv832203 CNV loss 17160897

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)

Additional Variant Information for PIK3CD Gene

Human Gene Mutation Database (HGMD)
PIK3CD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIK3CD

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

Disorders for PIK3CD Gene

MalaCards: The human disease database

(8) MalaCards diseases for PIK3CD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for PIK3CD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … Waterfield MD (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 22 58
  2. PI3K p110delta regulates T-cell cytokine production during primary and secondary immune responses in mice and humans. (PMID: 20081091) Soond DR … Okkenhaug K (Blood 2010) 3 4 22 58
  3. Pooled analysis of phosphatidylinositol 3-kinase pathway variants and risk of prostate cancer. (PMID: 20197460) Koutros S … Berndt SI (Cancer research 2010) 3 22 44 58
  4. Autophosphorylation of p110delta phosphoinositide 3-kinase: a new paradigm for the regulation of lipid kinases in vitro and in vivo. (PMID: 10064595) Vanhaesebroeck B … Waterfield MD (The EMBO journal 1999) 3 4 22 58
  5. p110delta, a novel phosphatidylinositol 3-kinase catalytic subunit that associates with p85 and is expressed predominantly in leukocytes. (PMID: 9235916) Chantry D … Hoekstra MF (The Journal of biological chemistry 1997) 3 4 22 58

Products for PIK3CD Gene

Sources for PIK3CD Gene

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