MTMR12

MTMR12

Identifiers

MTMR12, 3-PAP, PIP3AP, myotubularin related protein 12

External IDs

OMIM: 606501 MGI: 2443034 HomoloGene: 10403 GeneCards: MTMR12

Gene location (Human)

Chr.	Chromosome 5 (human)^[1]

Band	5p13.3	Start	32,226,994 bp^[1]
Band	5p13.3	End	32,312,987 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 15 (mouse)^[2]

Band	15\|15 A1	Start	12,205,114 bp^[2]
Band	15\|15 A1	End	12,274,582 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

germinal epithelium

lactiferous duct

caput epididymis

endothelial cell

parietal pleura

bronchial epithelial cell

tibia

Brodmann area 23

corpus epididymis

parotid gland

Top expressed in

spermatid

hand

left lung lobe

thymus

proximal tubule

otolith organ

utricle

dentate gyrus

spermatocyte

lymph node

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

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.

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This page was last edited on 17 October 2022, at 09:50

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Function

References

Further reading