MTMR12 (myotubularin related protein 12)
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.
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|||||||
|
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
|
|||||||||||||||
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 |
|
|||||||||||||||
Sequence length | 747 | |||||||||||||||
Interactions | View interactions |
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|||||||
|
Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
|
||||||||||||||||
|
||||||||||||||||
|