Gene: PIK3R2

Alternate names for this Gene: MPPH|MPPH1|P85B|p85|p85-BETA

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: phosphoinositide-3-kinase regulatory subunit 2

Type of Gene: protein-coding

rs372272045 in PIK3R2 gene and MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 PMID 23745724 2014 AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 26860062 2016 De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 28502725 2017 Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.

PMID 16357568 2006 Oncogenic PI3K and its role in cancer.

PMID 21984976 2011 High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability.

rs587776934 in PIK3R2 gene and Megalencephaly cutis marmorata telangiectatica congenita PMID 24497998 2014 Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

rs587776934 in PIK3R2 gene and Multiple congenital anomalies PMID 23449172 2013 Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.

PMID 23619167 2013 Frequent mutation of the PI3K pathway in head and neck cancer defines predictive biomarkers.

PMID 23592320 2013 Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

PMID 22989095 2012 Caught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications.

PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

PMID 23606607 2013 Molecular mechanisms of childhood overgrowth.

PMID 26860062 2016 De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 23745724 2014 AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

PMID 21984976 2011 High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 24497998 2014 Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

rs1057519801 in PIK3R2 gene and endometrial adenoacanthoma PMID 21984976 2011 High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability.