PPP2R3C
Developmental stage
Expressed in fetal brain.
Function
May regulate MCM3AP phosphorylation through phosphatase recruitment (By similarity). May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex (PubMed:24333728). May play a role in the activation-induced cell death of B-cells (By similarity).
Involvement in disease
Myoectodermal gonadal dysgenesis syndrome
MEGD
An autosomal recessive disorder characterized by 46,XY complete gonadal dysgenesis and extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay.
None
The disease is caused by variants affecting the gene represented in this entry.
Spermatogenic failure 36
SPGF36
An autosomal dominant infertility disorder due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus.
None
The disease may be caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitously expressed in brain and other tissues.
Cellular localization
- Nucleus
- Cytoplasm
- Excluded from the nucleoli. Localization is cell cycle-dependent. Localizes to the cytoplasm during cytokinesis.
Alternative names
C14orf10, G5PR, PPP2R3C, Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma, Protein phosphatase subunit G5PR, Rhabdomyosarcoma antigen MU-RMS-40.6A/6C