PPP2CA gene

protein phosphatase 2 catalytic subunit alpha

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]

From UniProt:

PP2A is the major phosphatase for microtubule-associated proteins (MAPs). PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Cooperates with SGO2 to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I (By similarity). Can dephosphorylate SV40 large T antigen and p53/TP53. Activates RAF1 by dephosphorylating it at 'Ser-259'.

From NCBI Gene:

  • NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES

From UniProt:

Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA): An autosomal dominant neurodevelopmental disorder characterized by global developmental delay with onset in infancy and additional variable features including hypotonia, epilepsy, brain abnormalities such as ventriculomegaly and a small corpus callosum, and autism spectrum disorder. [MIM:618354]

Cytogenetic Location: 5q31.1, which is the long (q) arm of chromosome 5 at position 31.1

Molecular Location: base pairs 134,194,332 to 134,226,073 on chromosome 5 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 5q31.1, which is the long (q) arm of chromosome 5 at position 31.1
  • NEDLBA
  • PP2Ac
  • PP2CA
  • PP2Calpha
  • RP-C