| Gene Information | |
|---|---|
| Gene Name | KIAA1682 |
| Organism | Homo sapiens (Human) |
| Gene Length | 747 |
| Protein Names | Myotubularin-related protein 12 (Inactive phosphatidylinositol 3-phosphatase 12) (Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit) (3-PAP) (3-phosphatase adapter protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9C0I1 |
| Gene Card | MTMR12 |
| Uniprot ID | Q9C0I1 |
| Pfam | PF12578; PF06602 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| 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}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| 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 classification | NA |
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