MTMR12

Myotubularin related protein 12 is a protein that in humans is encoded by the MTMR12 gene.^[5]

MTMR12
Identifiers
Aliases	MTMR12, 3-PAP, PIP3AP, myotubularin related protein 12
External IDs	OMIM: 606501; MGI: 2443034; HomoloGene: 10403; GeneCards: MTMR12; OMA:MTMR12 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5p13.3 Start 32,226,994 bp[1] End 32,312,987 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 A1 Start 12,205,114 bp[2] End 12,274,582 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium lactiferous duct tail of epididymis caput epididymis endothelial cell decidua parietal pleura bronchial epithelial cell tibia Brodmann area 23 Top expressed in spermatid stroma of bone marrow otic vesicle granulocyte hand right kidney left lung lobe thymus proximal tubule otolith organ More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding phosphatase regulator activity Cellular component cytosol cytoplasm sarcoplasmic reticulum sarcomere Biological process toxin transport regulation of catalytic activity phosphatidylinositol biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54545 268783 Ensembl ENSG00000150712 ENSMUSG00000039458 UniProt Q9C0I1 Q80TA6 RefSeq (mRNA) NM_001040446 NM_001294343 NM_001294344 NM_019061 NM_172958 NM_001356498 RefSeq (protein) NP_001035536 NP_001281272 NP_001281273 NP_766546 NP_001343427 Location (UCSC) Chr 5: 32.23 – 32.31 Mb Chr 15: 12.21 – 12.27 Mb PubMed search [3] [4]
Wikidata
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Function

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 an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.