PPP2R3C gene

protein phosphatase 2 regulatory subunit B''gamma

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

From NCBI Gene:

This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

From UniProt:

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).

From NCBI Gene:

  • GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
  • SPERMATOGENIC FAILURE 36

From UniProt:

Spermatogenic failure 36 (SPGF36): An autosomal dominant infertility disorder due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus. [MIM:618420]

Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy (GDRM): 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. [MIM:618419]

Cytogenetic Location: 14q13.2, which is the long (q) arm of chromosome 14 at position 13.2

Molecular Location: base pairs 35,085,467 to 35,122,662 on chromosome 14 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 14q13.2, which is the long (q) arm of chromosome 14 at position 13.2
  • C14orf10
  • G4-1
  • G5pr
  • GDRM
  • SPGF36