MTMR12

Protein-coding gene in the species Homo sapiens
MTMR12
Identifiers
AliasesMTMR12, 3-PAP, PIP3AP, myotubularin related protein 12
External IDsOMIM: 606501; MGI: 2443034; HomoloGene: 10403; GeneCards: MTMR12; OMA:MTMR12 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for MTMR12
Genomic location for MTMR12
Band5p13.3Start32,226,994 bp[1]
End32,312,987 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for MTMR12
Genomic location for MTMR12
Band15|15 A1Start12,205,114 bp[2]
End12,274,582 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 15: 12.21 – 12.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000150712 – Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ "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.


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