Property Summary

NCBI Gene PubMed Count 19
Grant Count 3
Funding $186,840.54
PubMed Score 16.90
PubTator Score 20.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
psoriasis -1.900 0.000
osteosarcoma -1.796 0.000
lung cancer -1.500 0.032
ovarian cancer 1.200 0.000

Synonym

Accession O75204 D3DXH0
Symbols

Gene

Pathway (1)

Gene RIF (13)

PMID Text
26591561 Hereditary pheochromocytoma / paraganglioma associated with TMEM127 gene mutations has more aggressive course,bilateral adrenal involvement, higher recurrence rate, younger age at disease manifestations.
25800244 We report the first case of an individual with both a pheochromocytoma and a multilocular clear cell renal cell carcinoma driven by a novel germline mutation in the TMEM127 gene, with a sibling and 2 sons with the same mutation.
25389632 Tumor multicentricity, nodular adrenomedullary hyperplasia, and the occurrence of symptoms more than a decade earlier than the age at diagnosis are novel findings in TMEM127-related pheochromocytoma.
23551308 A male patient with sporadic adrenal pheochromocytoma presents with a novel TMEM127 germline mutation, p. Gln139X.
22541004 report shows that TMEM127 mutation plays a pathological role in pheochromocytoma in an Asian population.
21752829 TMEM127 protein localizes in lysosomes in HeLa cells
21613359 TMEM127 germline mutations confer risks of extraadrenal paraganglial tumors in addition to the documented adrenal pheochromocytoma.
21447639 TMEM127 is a novel pheochromocytoma susceptibility gene.[review]
21156949 Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms; mutations disrupt intracellular distribution of the FP/TMEM127 protein.
20923864 Pathological and genomic data demonstrated that a TMEM127 gene mutation not previously described was causative of a new case of familial bilateral pheochromocytoma.
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AA Sequence

MYAPGGAGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGTCSRQELGVSD      1 - 70
VLGYVHPDLLKDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKHPALKITRRYAFAHILTVLQC     71 - 140
ATVIGFSYWASELILAQQQQHKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLLRHYPTEEEEQALEL    141 - 210
LSEMEENEPYPAEYEVINQFQPPPAYTP                                              211 - 238
//

Text Mined References (21)

PMID Year Title
26591561 2015 [Hereditary pheochromocytoma-associated syndromes. Part 1].
25800244 2015 Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association.
25389632 2015 Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.
24334765 2014 The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function.
23551308 2013 Novel mutation in the TMEM127 gene associated with phaeochromocytoma.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22541004 2012 Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma.
21752829 2011 Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.
21613359 2011 Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites.
21447639 2011 Minireview: the busy road to pheochromocytomas and paragangliomas has a new member, TMEM127.
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