• Gene id: 54545

Gene Summary

• Gene Symbol: MTMR12   Gene   UCSC   Ensembl
• Aliases: 3-PAP, PIP3AP
• Gene name: myotubularin related protein 12
• Alternate names: myotubularin-related protein 12, 3-phosphatase adapter protein, 3-phosphatase adapter subunit, inactive phosphatidylinositol 3-phosphatase 12, phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit, phosphatidylinositol-3 phosphate 3-phosphatase adapto,
• Gene location: 5p13.3 (32312938: 32227006)     Exons: 16     NC_000005.10
• Gene summary(Entrez): Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with
• OMIM: 606501

Protein Summary

• Protein general information: Q9C0I1  
  • Name: Myotubularin related protein 12 (Inactive phosphatidylinositol 3 phosphatase 12) (Phosphatidylinositol 3 phosphate 3 phosphatase adapter subunit) (3 PAP) (3 phosphatase adapter protein)
  • Length: 747  
  • Mass: 86148
  • Tissue specificity: Expressed in skeletal muscles (at protein level) (PubMed
• Sequence:

  MLGKGVVGGGGGTKAPKPSFVSYVRPEEIHTNEKEVTEKEVTLHLLPGEQLLCEASTVLKYVQEDSCQHGVYGRL
  VCTDFKIAFLGDDESALDNDETQFKNKVIGENDITLHCVDQIYGVFDEKKKTLFGQLKKYPEKLIIHCKDLRVFQ
  FCLRYTKEEEVKRIVSGIIHHTQAPKLLKRLFLFSYATAAQNNTVTDPKNHTVMFDTLKDWCWELERTKGNMKYK
  AVSVNEGYKVCERLPAYFVVPTPLPEENVQRFQGHGIPIWCWSCHNGSALLKMSALPKEQDDGILQIQKSFLDGI
  YKTIHRPPYEIVKTEDLSSNFLSLQEIQTAYSKFKQLFLIDNSTEFWDTDIKWFSLLESSSWLDIIRRCLKKAIE
  ITECMEAQNMNVLLLEENASDLCCLISSLVQLMMDPHCRTRIGFQSLIQKEWVMGGHCFLDRCNHLRQNDKEEVP
  VFLLFLDCVWQLVHQHPPAFEFTETYLTVLSDSLYIPIFSTFFFNSPHQKDTNMGREGQDTQSKPLNLLTVWDWS
  VQFEPKAQTLLKNPLYVEKPKLDKGQRKGMRFKHQRQLSLPLTQSKSSPKRGFFREETDHLIKNLLGKRISKLIN
  SSDELQDNFREFYDSWHSKSTDYHGLLLPHIEGPEIKVWAQRYLRWIPEAQILGGGQVATLSKLLEMMEEVQSLQ
  EKIDERHHSQQAPQAEAPCLLRNSARLSSLFPFALLQRHSSKPVLPTSGWKALGDEDDLAKREDEFVDLGDV

• Structural information:
  • Protein Domains: (205..64-)
    (/note="Myotubularin-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00669"-)
  • Interpro: IPR030576  IPR022587  IPR010569  IPR030564  IPR029021  
  • Prosite: PS51339
  • STRING: ENSP00000371577
• Other Databases: GeneCards:  MTMR12  Malacards:  MTMR12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004438	phosphatidylinositol-3-phosphatase activity	IBA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0019208	phosphatase regulator activity	IEA	molecular function
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
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:1901998	toxin transport	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq