PIK3R2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PIK3R2 (HGNC:8980) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- phosphoinositide-3-kinase regulatory subunit 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- P85B, p85, p85beta, p85-BETA
- %HI
- 48.46(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.76(Read more about gnomAD LOEUF score)
- Cytoband
- 19p13.11
- Genomic Coordinates
-
GRCh37/hg19: chr19:18263973-18281342 NCBI Ensembl UCSC GRCh38/hg38: chr19:18153163-18170532 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005027.4 ENST00000222254.13 (Read more about MANE Select)
- Function
- Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(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. Binds to activated (phosphorylated) protein- tyrosine kinases, through its SH2 domain... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-34567
ClinGen Curation ID:
CCID:007669
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
06/25/2015
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Variants in PIK3R2 have been reported in individuals with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. To date, all reported variants have been missense variants; the variants are believed to cause disease by a gain-of-function mechanism. See PMIDs 22729224, 23592320, and 23745724 for additional information.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000019.9)
(NC_000019.10)