Jump to content

Main menu Navigation ●Main page ●Contents ●Current events ●Random article ●About Wikipedia ●Contact us ●Donate Contribute ●Help ●Learn to edit ●Community portal ●Recent changes ●Upload file

●Create account ●Log in ●Create account ● Log in Pages for logged out editors learn more ●Contributions ●Talk

(Top) 1 Function 2 References 3 Further reading

MTMR12

●العربية ●مصرى ●Татарча / tatarça ●Українська Edit links ●Article ●Talk ●Read ●Edit ●View history Tools Actions ●Read ●Edit ●View history General ●What links here ●Related changes ●Upload file ●Special pages ●Permanent link ●Page information ●Cite this page ●Get shortened URL ●Download QR code ●Wikidata item Print/export ●Download as PDF ●Printable version Appearance From Wikipedia, the free encyclopedia

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]
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

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

View/Edit Human

View/Edit Mouse

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

Function[edit]

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[edit]

^ ^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[edit]

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.

Retrieved from "https://en.wikipedia.org/w/index.php?title=MTMR12&oldid=1116588674" Categories: ●Genes on human chromosome 5 ●Human chromosome 5 gene stubs Hidden categories: ●Articles with short description ●Short description matches Wikidata ●All stub articles ●Wikipedia articles incorporating text from the United States National Library of Medicine ●This page was last edited on 17 October 2022, at 09:50 (UTC). ●Text is available under the Creative Commons Attribution-ShareAlike License 4.0; additional terms may apply. By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc., a non-profit organization. ●Privacy policy ●About Wikipedia ●Disclaimers ●Contact Wikipedia ●Code of Conduct ●Developers ●Statistics ●Cookie statement ●Mobile view