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
217528292011Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.263
201546752010Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.106
201546752010Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.106
211569492010Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.44
283847942017Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.31
216133592011Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites.27
209238642011A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.14
214476392011Minireview: the busy road to pheochromocytomas and paragangliomas has a new member, TMEM127.12
258002442015Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association.10
253896322015Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.9

Citation

Dessen P

TMEM127 (transmembrane protein 127)

Atlas Genet Cytogenet Oncol Haematol. 2010-05-01

Online version: http://atlasgeneticsoncology.org/gene/51455/tmem127