PIK3R2 phosphoinositide-3-kinase regulatory subunit 2

Gene ID: 5296, updated on 5-Mar-2024
Gene type: protein coding
Also known as: p85; MPPH; P85B; MPPH1; p85beta; p85-BETA

Summary

Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 MedGen: C4012727OMIM: 603387GeneReviews: MPPH Syndrome	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2015-06-25) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2015-06-25) ClinGen Genome Curation Page

Genomic context

Location:: 19p13.11

Sequence:: Chromosome: 19; NC_000019.10 (18153163..18170532)

Total number of exons:: 16

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 PIK3R2 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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