TMEM127 (transmembrane protein 127)

2010-05-01  

Identity

HGNC
TMEM127
LOCATION
2q11.2
LOCUSID
55654
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55654
MIM: 613403
HGNC: 26038
Ensembl: ENSG00000135956

Variants:

dbSNP: 55654
ClinVar: 55654
TCGA: ENSG00000135956
COSMIC: TMEM127

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135956ENST00000258439O75204
ENSG00000135956ENST00000432959O75204
ENSG00000135956ENST00000435268C9J4H2

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
376590792023TMEM127 suppresses tumor development by promoting RET ubiquitination, positioning, and degradation.3
376590792023TMEM127 suppresses tumor development by promoting RET ubiquitination, positioning, and degradation.3
330516592021Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.6
330516592021Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.6
325261602020The Tumour Suppressor TMEM127 Is a Nedd4-Family E3 Ligase Adaptor Required by Salmonella SteD to Ubiquitinate and Degrade MHC Class II Molecules.23
325751172020Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking.9
325261602020The Tumour Suppressor TMEM127 Is a Nedd4-Family E3 Ligase Adaptor Required by Salmonella SteD to Ubiquitinate and Degrade MHC Class II Molecules.23
325751172020Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking.9
292827122018Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.3
295478882018The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex.14
292827122018Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.3
295478882018The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex.14
283847942017Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.79
283847942017Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.79
269603142016Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.7

Citation

Dessen P

TMEM127 (transmembrane protein 127)

Atlas Genet Cytogenet Oncol Haematol. 2010-05-01

Online version: http://atlasgeneticsoncology.org/gene/51455/tmem127-(transmembrane-protein-127)