• Gene id: 55012

Gene Summary

• Gene Symbol: PPP2R3C   Gene   UCSC   Ensembl
• Aliases: C14orf10, G4-1, G5pr, GDRM, SPGF36
• Gene name: protein phosphatase 2 regulatory subunit B''gamma
• Alternate names: serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma, protein phosphatase 2 (formerly 2A), regulatory subunit B'', protein phosphatase 2, regulatory subunit B'', gamma, protein phosphatase subunit G5PR, rhabdomyosarcoma antigen MU-RMS,
• Gene location: 14q13.2 (35122661: 35085466)     Exons: 16     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 615902

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04728	Dopaminergic synapse
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04152	AMPK signaling pathway
hsa05165	Human papillomavirus infection
hsa04071	Sphingolipid signaling pathway
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Spermatogenesis defects	KEGG: H01282
Crucial for testis development and spermatogenesis	MIK: 30893644
46,XY gonadal dysgenesis and impaired spermatogenesis	MIK: 30893644
46,XY gonadal dysgenesis and impaired spermatogenesis	MIK: 30893644
Testis development	MIK: 30893644
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30893644	46,XY gonadal dysgenesis and impaired spermatogenesis, Gene crucial for testis development and spermatogenesis	c.308T>C (p.L103P), c.578T>C (p.L193S) and c.1049T>C (p.F350S)		4 girls with 46, XY complete gonadal dysgenesis	Male infertility	SOX9
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray