Gene Information
Gene NameMTMR12
OrganismHomo sapiens (Human)
Gene Length747
Protein NamesMyotubularin-related protein 12 (Inactive phosphatidylinositol 3-phosphatase 12) (Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit) (3-PAP) (3-phosphatase adapter protein)
Target NameNA
Target TypeNA
Gene Age1488 ( ENSG00000150712 )
Evolutionary StageEumetazoa
AlphaFoldDBQ9C0I1
Gene CardMTMR12
Uniprot IDQ9C0I1
PfamPF12578; PF06602
In ASDno
Allosteric Predictionno (-1.313690171)
Ortholog in AnimalsAlpaca_ MTMR12 ( ortholog_one2one )
GuineaPig_ MTMR12 ( ortholog_one2one )
Macaque_ MTMR12 ( ortholog_one2one )
Mouse_ Mtmr12 ( ortholog_one2one )
Pig_ MTMR12 ( ortholog_one2one )
Rat_ Mtmr12 ( ortholog_one2one )
Rabbit_ MTMR12 ( ortholog_one2one )
OhnologsMTMR10, MTMR11
ParalogsMTMR10, MTMR7, SBF1, SBF2, MTMR9, MTM1, MTMR8, MTMR6, MTMR2, MTMR1, MTMR11, MTMR3, MTMR4
TissueNA
Tissue SpecificityExpressed in skeletal muscles (at protein level) (PubMed:23818870). Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung (PubMed:11504939). {ECO:0000269|PubMed:11504939, ECO:0000269|PubMed:23818870}.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB NA 
DBSNP NA 
Subcellular location [CC]Cytoplasm {ECO:0000269|PubMed:12847286}. Sarcoplasmic reticulum {ECO:0000250|UniProtKB:Q80TA6}. Cytoplasm, myofibril, sarcomere {ECO:0000250|UniProtKB:Q80TA6}. Note=Localizes to punctate vesicles when associated with MTM1 (PubMed:12847286). Localizes to triads, a structure formed by a T tubule and two sarcoplasmic reticulum terminal cisterna (By similarity). In skeletal muscles, co-localizes with MTM1 in the sarcomere (By similarity). Partially localizes to the sarcoplasmic reticulum in skeletal muscles (By similarity). {ECO:0000250|UniProtKB:Q80TA6, ECO:0000269|PubMed:12847286}.
Mouse PG classificationNA
click here to return to the previous page