Protein-coding gene in the species Homo sapiens
MTMR12 |
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Identifiers |
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Aliases | MTMR12, 3-PAP, PIP3AP, myotubularin related protein 12 |
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External IDs | OMIM: 606501; MGI: 2443034; HomoloGene: 10403; GeneCards: MTMR12; OMA:MTMR12 - orthologs |
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Gene location (Human) |
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![Chromosome 5 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/6/61/Ideogram_human_chromosome_5.svg/300px-Ideogram_human_chromosome_5.svg.png) | Chr. | Chromosome 5 (human)[1] |
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| Band | 5p13.3 | Start | 32,226,994 bp[1] |
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End | 32,312,987 bp[1] |
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Gene location (Mouse) |
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![Chromosome 15 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/1/13/Ideogram_house_mouse_chromosome_15.svg/260px-Ideogram_house_mouse_chromosome_15.svg.png) | Chr. | Chromosome 15 (mouse)[2] |
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| Band | 15|15 A1 | Start | 12,205,114 bp[2] |
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End | 12,274,582 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - germinal epithelium
- lactiferous duct
- tail of epididymis
- caput epididymis
- endothelial cell
- decidua
- parietal pleura
- bronchial epithelial cell
- tibia
- Brodmann area 23
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| Top expressed in | - spermatid
- stroma of bone marrow
- otic vesicle
- granulocyte
- hand
- right kidney
- left lung lobe
- thymus
- proximal tubule
- otolith organ
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001040446 NM_001294343 NM_001294344 NM_019061 |
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RefSeq (protein) | |
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NP_001035536 NP_001281272 NP_001281273 |
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Location (UCSC) | Chr 5: 32.23 – 32.31 Mb | Chr 15: 12.21 – 12.27 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Myotubularin related protein 12 is a protein that in humans is encoded by the MTMR12 gene.[5]
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.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000150712 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039458 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Myotubularin related protein 12". Retrieved 2017-05-19.
Further reading
- Nandurkar HH, Layton M, Laporte J, Selan C, Corcoran L, Caldwell KK, Mochizuki Y, Majerus PW, Mitchell CA (2003). "Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP". Proc. Natl. Acad. Sci. U.S.A. 100 (15): 8660–5. Bibcode:2003PNAS..100.8660N. doi:10.1073/pnas.1033097100. PMC 166368. PMID 12847286.
- Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
- Ritter BP, Angelo GW, Durner M, Rossy-Fullana E, Carrion-Baralt J, Silverman JM, Bespalova IN (2012). "Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia". Psychiatr. Genet. 22 (1): 51–2. doi:10.1097/YPG.0b013e3283463dd7. PMID 21451436.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.