PTPA

protein phosphatase 2 phosphatase activator

Summary

Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants23 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs747899394	9:131,882,785	T/G	—	likely benign
rs147044679	9:131,885,414	C/T	—	benign
rs753078888	9:131,885,415	G/C	—	uncertain significance
rs10988217	9:131,888,116	A/G	regulatory region variant	—
rs10988218	9:131,888,320	C/T	—	—
rs370593735	9:131,890,313	C/T	—	uncertain significance
rs7023900	9:131,891,152	C/G	intron variant	—
rs200340392	9:131,891,373	A/G	—	benign
rs2490999610	9:131,893,865	C/A	—	pathogenic
rs7037163	9:131,894,340	A/G	—	—
rs991062205	9:131,896,538	C/T	—	—
rs4836639	9:131,897,131	G/A	—	benign
rs138155879	9:131,897,161	A/C	—	benign
rs17508881	9:131,898,801	C/T	—	benign
rs10988223	9:131,903,021	T/C	regulatory region variant	—
rs3124514	9:131,904,608	C/A	—	—
rs146867459	9:131,904,715	C/G	—	likely benign
rs1564202579	9:131,904,725	T/G	—	pathogenic
rs11554659	9:131,904,777	C/T	—	likely benign
rs376143624	9:131,907,270	C/A	—	—
rs3739845	9:131,909,737	G/C	—	likely benign
rs913275	9:131,910,644	G/A	3 prime UTR variant	—
rs4713	9:131,910,805	A/T	3 prime UTR variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.