MTMR12

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)
End	32,312,987 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	12,274,582 bp
RNA expression pattern
	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
	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
	54545
	268783
	ENSG00000150712
	ENSMUSG00000039458
	Q9C0I1
	Q80TA6
	NM_001040446; NM_001294343; NM_001294344; NM_019061
	NM_172958; NM_001356498
	NP_001035536; NP_001281272; NP_001281273
	NP_766546; NP_001343427
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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 on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000150712 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039458 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Myotubularin related protein 12". Retrieved 2017-05-19.

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Function

References

Further reading