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

Gene ID: 5293, updated on 11-Apr-2024
Gene type: protein coding
Also known as: APDS; PI3K; IMD14; p110D; IMD14A; IMD14B; ROCHIS; P110DELTA

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Combined immunodeficiency with faciooculoskeletal anomalies MedGen: C2750068OMIM: 613328GeneReviews: Not available	See labs
Immunodeficiency 14 MedGen: C3714976OMIM: 615513GeneReviews: Not available	See labs
Immunodeficiency 14b, autosomal recessive MedGen: C5543301OMIM: 619281GeneReviews: Not available	See labs

Genomic context

Location:: 1p36.22

Sequence:: Chromosome: 1; NC_000001.11 (9627258..9729114)

Total number of exons:: 34

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PIK3CD variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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