• Gene id: 8898

Gene Summary

• Gene Symbol: MTMR2   Gene   UCSC   Ensembl
• Aliases: CMT4B, CMT4B1
• Gene name: myotubularin related protein 2
• Alternate names: myotubularin-related protein 2, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, phosphatidylinositol-3-phosphatase, phosphatidylinositol-3-phosphate phosphatase, phosphoinositide-3-phosphatase,
• Gene location: 11q21 (95924206: 95832879)     Exons: 19     NC_000016.10
• Gene summary(Entrez): This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a ca
• OMIM: 603557

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG: H00264
Chronic renal failure	GAD: 21085059
Spermatogenesis defects	MIK: 15557122
Impaired spermatogenesis	MIK: 15557122
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15557122	Impaired spermatogenesis				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray