PPP2R3C Chromosome 14
Protein phosphatase 2 regulatory subunit B''gamma
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What This Gene Does
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]
Gene Info
Gene Group
Protein phosphatase 2 regulatory subunits
Locus Type
gene with protein product
Location
14q13.2
Ensembl
ENSG00000092020
Associated Conditions (5)
Gonadal dysgenesis
dysmorphic facies
retinal dystrophy
and myopathy
Spermatogenic failure 36
Key Variants
RS1307002115
Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy
Health Risk
RS1566411552
Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy
Health Risk
RS1566684983
Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy
Health Risk
RS2503015880
Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy
Health Risk
RS754106837
Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy
Health Risk
RS772361886
Pathogenic
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1307002115 | Health Risk | Pathogenic | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy |
| RS1566411552 | Health Risk | Pathogenic | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy |
| RS1566684983 | Health Risk | Pathogenic | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy |
| RS2503015880 | Health Risk | Pathogenic | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy |
| RS754106837 | Health Risk | Pathogenic | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy |
| RS772361886 | Health Risk | Pathogenic | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy |