• Gene id: 55613

Gene Summary

• Gene Symbol: MTMR8   Gene   UCSC   Ensembl
• Gene name: myotubularin related protein 8
• Alternate names: myotubularin-related protein 8, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, phosphatidylinositol-3-phosphate phosphatase,
• Gene location: Xq11.2 (64395451: 64268080)     Exons: 14     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID).

Protein Summary

• Protein general information: Q96EF0  
  • Name: Myotubularin related protein 8 (Phosphatidylinositol 3,5 bisphosphate 3 phosphatase) (EC 3.1.3.95) (Phosphatidylinositol 3 phosphate phosphatase) (EC 3.1.3.64)
  • Length: 704  
  • Mass: 78919
• Sequence:

  MDHITVPKVENVKLVDRYVSKKPANGILYLTATHLIYVEASGAARKETWIALHHIATVEKLPITSLGCPLTLRCK
  NFRVAHFVLDSDLVCHEVYISLLKLSQPALPEDLYAFSYNPKSSKEMRESGWKLIDPISDFGRMGIPNRNWTITD
  ANRNYEICSTYPPEIVVPKSVTLGTVVGSSKFRSKERVPVLSYLYKENNAAICRCSQPLSGFYTRCVDDELLLEA
  ISQTNPGSQFMYVVDTRPKLNAMANRAAGKGYENEDNYANIRFRFMGIENIHVMRSSLQKLLEVCELKTPTMSEF
  LSGLESSGWLRHIKAIMDAGIFITKAVKVEKASVLVHCSDGWDRTAQVCSVASILLDPFYRTFKGLMILIEKEWI
  SMGHKFSQRCGHLDGDSKEVSPIFTQFLDCIWQLMEQFPCAFEFNENFLLEIHDHVFSCQFGNFLGNCQKDREDL
  RVYEKTHSVWPFLVQRKPDFRNPLYKGFTMYGVLNPSTVPYNIQFWCGMYNRFDKGLQPKQSMLESLLEIKKQRA
  MLETDVHELEKKLKVRDEPPEEICTCSQLGNILSQHLGSPLTNPLGFMGINGDLNTLMENGTLSREGGLRAQMDQ
  VKSQGADLHHNCCEIVGSLRAINISGDVGISEAMGISGDMCTFEATGFSKDLGICGAMDISEATGISGNLGISEA
  RGFSGDMGILGDTGISKASTKEADYSKHQ

• Structural information:
  • Protein Domains: (126..50-)
    (/note="Myotubularin-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00669"-)
  • Interpro: IPR030591  IPR010569  IPR030564  IPR011993  IPR029021   IPR016130  IPR003595  
  • Prosite: PS51339 PS00383
  • PDB: 4Y7I
  • PDBsum: 4Y7I
  • DIP: 60046
  • STRING: ENSP00000363985
• Other Databases: GeneCards:  MTMR8  Malacards:  MTMR8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0106018	phosphatidylinositol-3,5-bisphosphate phosphatase activity	IBA	molecular function
GO:0004438	phosphatidylinositol-3-phosphatase activity	IBA	molecular function
GO:0005635	nuclear envelope	IBA	cellular component
GO:0010507	negative regulation of autophagy	IBA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0010506	regulation of autophagy	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA	molecular function
GO:0004438	phosphatidylinositol-3-phosphatase activity	IEA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0004438	phosphatidylinositol-3-phosphatase activity	IEA	molecular function
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005635	nuclear envelope	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881