Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54545
Gene name Gene Name - the full gene name approved by the HGNC.
Myotubularin related protein 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MTMR12
Synonyms (NCBI Gene) Gene synonyms aliases
3-PAP, PIP3AP
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003764 hsa-miR-1-3p Microarray 15685193
MIRT003764 hsa-miR-1-3p Microarray 15685193
MIRT003764 hsa-miR-1-3p Microarray 18668037
MIRT024864 hsa-miR-215-5p Microarray 19074876
MIRT025161 hsa-miR-181a-5p Microarray 17612493
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004438 Function Phosphatidylinositol-3-phosphatase activity IBA 21873635
GO:0005515 Function Protein binding IPI 12847286
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 16787938
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606501 18191 ENSG00000150712
Protein
UniProt ID Q9C0I1
Protein name Myotubularin-related protein 12 (Inactive phosphatidylinositol 3-phosphatase 12) (Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit) (3-PAP) (3-phosphatase adapter protein)
Protein function Acts as an adapter for the myotubularin-related phosphatases (PubMed:11504939, PubMed:12847286, PubMed:23818870). Regulates phosphatase MTM1 protein stability and possibly its intracellular location (PubMed:23818870). By stabilizing MTM1 protein
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06602 Myotub-related 301 501 Myotubularin-like phosphatase domain Domain
PF12578 3-PAP 558 687 Myotubularin-associated protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed 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}.
Sequence
MLGKGVVGGGGGTKAPKPSFVSYVRPEEIHTNEKEVTEKEVTLHLLPGEQLLCEASTVLK
YVQEDSCQHGVYGRLVCTDFKIAFLGDDESALDNDETQFKNKVIGENDITLHCVDQIYGV
FDEKKKTLFGQLKKYPEKLIIHCKDLRVFQFCLRYTKEEEVKRIVSGIIHHTQAPKLLKR
LFLFSYATAAQNNTVTDPKNHTVMFDTLKDWCWELERTKGNMKYKAVSVNEGYKVCERLP
AYFVVPTPLPEENVQRFQGHGIPIWCWSCHNGSALLKMSALPKEQDDGILQIQKSFLDGI
YKTIHRPPYEIVKTEDLSSNFLSLQEIQTAYSKFKQLFLIDNSTEFWDTDIKWFSLLESS
SWLDIIRRCLKKAIEITECMEAQNMNVLLLEENASDLCCLISSLVQLMMDPHCRTRIGFQ
SLIQKEWVMGGHCFLDRCNHLRQNDKEEVPVFLLFLDCVWQLVHQHPPAFEFTETYLTVL
SDSLYIPIFSTFFFNSPHQKD
TNMGREGQDTQSKPLNLLTVWDWSVQFEPKAQTLLKNPL
YVEKPKLDKGQRKGMRFKHQRQLSLPLTQSKSSPKRGFFREETDHLIKNLLGKRISKLIN
SSDELQDNFREFYDSWHSKSTDYHGLLLPHIEGPEIKVWAQRYLRWIPEAQILGGGQVAT
LSKLLEMMEEVQSLQEKIDERHHSQQA
PQAEAPCLLRNSARLSSLFPFALLQRHSSKPVL
PTSGWKALGDEDDLAKREDEFVDLGDV
Sequence length 747
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of PIPs at the early endosome membrane
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 25897834 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
alpha 1 Antitrypsin Deficiency Associate 38557779
Chemical and Drug Induced Liver Injury Associate 38557779