• Gene id: 9110

Gene Summary

• Gene Symbol: MTMR4   Gene   UCSC   Ensembl
• Aliases: FYVE-DSP2, ZFYVE11
• Gene name: myotubularin related protein 4
• Alternate names: myotubularin-related protein 4, FYVE domain-containing dual specificity protein phosphatase 2, zinc finger FYVE domain-containing protein 11, zinc finger, FYVE domain containing 11,
• Gene location: 17q22 (58518108: 58489536)     Exons: 23     NC_000017.11
• OMIM: 603559

Protein Summary

• Protein general information: Q9NYA4  
  • Name: Myotubularin related protein 4 (EC 3.1.3.48) (FYVE domain containing dual specificity protein phosphatase 2) (FYVE DSP2) (Zinc finger FYVE domain containing protein 11)
  • Length: 1195  
  • Mass: 133353
  • Tissue specificity: Expressed in brain, heart, kidney, spleen, liver, colon, testis, muscle, placenta, thyroid gland, pancreas, ovary, prostate, skin, peripheral blood, and bone marrow. {ECO
• Sequence:

  MGEEGPPSLEYIQAKDLFPPKELVKEEENLQVPFTVLQGEGVEFLGRAADALIAISNYRLHIKFKDSVINVPLRM
  IDSVESRDMFQLHISCKDSKVVRCHFSTFKQCQEWLSRLSRATARPAKPEDLFAFAYHAWCLGLTEEDQHTHLCQ
  PGEHIRCRQEAELARMGFDLQNVWRVSHINSNYKLCPSYPQKLLVPVWITDKELENVASFRSWKRIPVVVYRHLR
  NGAAIARCSQPEISWWGWRNADDEYLVTSIAKACALDPGTRATGGSLSTGNNDTSEACDADFDSSLTACSGVEST
  AAPQKLLILDARSYTAAVANRAKGGGCECEEYYPNCEVVFMGMANIHAIRNSFQYLRAVCSQMPDPSNWLSALES
  TKWLQHLSVMLKAAVLVANTVDREGRPVLVHCSDGWDRTPQIVALAKILLDPYYRTLEGFQVLVESDWLDFGHKF
  GDRCGHQENVEDQNEQCPVFLQWLDSVHQLLKQFPCLFEFNEAFLVKLVQHTYSCLYGTFLANNPCEREKRNIYK
  RTCSVWALLRAGNKNFHNFLYTPSSDMVLHPVCHVRALHLWTAVYLPASSPCTLGEENMDLYLSPVAQSQEFSGR
  SLDRLPKTRSMDDLLSACDTSSPLTRTSSDPNLNNHCQEVRVGLEPWHSNPEGSETSFVDSGVGGPQQTVGEVGL
  PPPLPSSQKDYLSNKPFKSHKSCSPSYKLLNTAVPREMKSNTSDPEIKVLEETKGPAPDPSAQDELGRTLDGIGE
  PPEHCPETEAVSALSKVISNKCDGVCNFPESSQNSPTGTPQQAQPDSMLGVPSKCVLDHSLSTVCNPPSAACQTP
  LDPSTDFLNQDPSGSVASISHQEQLSSVPDLTHGEEDIGKRGNNRNGQLLENPRFGKMPLELVRKPISQSQISEF
  SFLGSNWDSFQGMVTSFPSGEATPRRLLSYGCCSKRPNSKQMRATGPCFGGQWAQREGVKSPVCSSHSNGHCTGP
  GGKNQMWLSSHPKQVSSTKPVPLNCPSPVPPLYLDDDGLPFPTDVIQHRLRQIEAGYKQEVEQLRRQVRELQMRL
  DIRHCCAPPAEPPMDYEDDFTCLKESDGSDTEDFGSDHSEDCLSEASWEPVDKKETEVTRWVPDHMASHCYNCDC
  EFWLAKRRHHCRNCGNVFCAGCCHLKLPIPDQQLYDPVLVCNSCYEHIQVSRARELMSQQLKKPIATASS

• Structural information:
  • Protein Domains: (153..57-)
    (/note="Myotubularin-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00669"-)
  • Interpro: IPR030590  IPR035997  IPR010569  IPR030564  IPR029021   IPR016130  IPR000387  IPR000306  IPR017455  IPR011011  IPR013083  
  • Prosite: PS51339 PS00383 PS50056 PS50178
  • CDD: cd13342
  • STRING: ENSP00000325285
• Other Databases: GeneCards:  MTMR4  Malacards:  MTMR4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010506	regulation of autophagy	IBA	biological process
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA	molecular function
GO:0004438	phosphatidylinositol-3-phosphatase activity	IBA	molecular function
GO:0019903	protein phosphatase binding	IBA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	IEA	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0016791	phosphatase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	TAS	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014894	response to denervation involved in regulation of muscle adaptation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0060304	regulation of phosphatidylinositol dephosphorylation	IDA	biological process
GO:0005768	endosome	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0019903	protein phosphatase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04140	Autophagy - animal
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray