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TMEM127

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Transmembrane protein
TMEM127
Identifiers
AliasesTMEM127, transmembrane protein 127
External IDsOMIM: 613403; MGI: 1916720; HomoloGene: 9877; GeneCards: TMEM127; OMA:TMEM127 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)
Chromosome 2 (human)Genomic location for TMEM127Genomic location for TMEM127
Band2q11.2Start96,248,514 bp
End96,265,997 bp
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)
Chromosome 2 (mouse)Genomic location for TMEM127Genomic location for TMEM127
Band2 F1|2 61.87 cMStart127,089,828 bp
End127,103,027 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • white blood cell

  • monocyte

  • blood

  • left ventricle

  • stromal cell of endometrium

  • buccal mucosa cell

  • apex of heart

  • endothelial cell

  • granulocyte

  • gallbladder
Top expressed in
  • otolith organ

  • utricle

  • ascending aorta

  • aortic valve

  • supraoptic nucleus

  • conjunctival fornix

  • granulocyte

  • facial motor nucleus

  • stroma of bone marrow

  • ciliary body
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

55654

69470

Ensembl

ENSG00000135956

ENSMUSG00000034850

UniProt

O75204

Q8BGP5

RefSeq (mRNA)

NM_032218
NM_001193304
NM_017849

NM_175145
NM_001362704

RefSeq (protein)

NP_001180233
NP_060319

NP_780354
NP_001349633

Location (UCSC)Chr 2: 96.25 – 96.27 MbChr 2: 127.09 – 127.1 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane protein 127 (TMEM127) is a transmembrane protein which is encoded by the TMEM127 gene. It has been demonstrated to be a negative regulator MTOR signalling. TMEM127 is a tumor suppressor gene, inactivating germline mutations in which causes hereditary pheochromocytoma and paraganglioma.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000135956 – Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000034850 – 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. "TMEM127 transmembrane protein 127 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-03-09.
  6. ^ Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL (March 2010). "Germline mutations in TMEM127 confer susceptibility to pheochromocytoma". Nature Genetics. 42 (3): 229–33. doi:10.1038/ng.533. PMC 2998199. PMID 20154675.
  7. Neumann HP, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, Bertz H, Walz MK, Moeller LC, Schmid KW, Eng C (August 2011). "Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites". The Journal of Clinical Endocrinology and Metabolism. 96 (8): E1279-82. doi:10.1210/jc.2011-0114. PMID 21613359.


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