Gene: TMEM127

Alternate names for this Gene: -

Gene Summary: This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified.

Gene is located in Chromosome: 2

Location in Chromosome : 2q11.2

Description of this Gene: transmembrane protein 127

Type of Gene: protein-coding

rs121908821 in TMEM127 gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 20154675 2010 Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

PMID 21156949 2010 Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

PMID 25800244 2015 Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association.

PMID 22419703 2012 TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.

PMID 26960314 2016 Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

rs1215337884 in TMEM127 gene and Neoplastic Syndromes, Hereditary PMID 26960314 2016 Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

PMID 21156949 2010 Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

PMID 20154675 2010 Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

rs121908823 in TMEM127 gene and Pheochromocytoma PMID 21156949 2010 Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

PMID 20154675 2010 Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

rs4907307 in TMEM127 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.