ENSG00000135956


Homo sapiens

Features
Gene ID: ENSG00000135956
  
Biological name :TMEM127
  
Synonyms : O75204 / TMEM127 / transmembrane protein 127
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q11.2
Gene start: 96248516
Gene end: 96265994
  
Corresponding Affymetrix probe sets: 219460_s_at (Human Genome U133 Plus 2.0 Array)   222887_s_at (Human Genome U133 Plus 2.0 Array)   235659_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000416660
Ensembl peptide - ENSP00000258439
Ensembl peptide - ENSP00000411810
NCBI entrez gene - 55654     See in Manteia.
OMIM - 613403
RefSeq - XM_017004452
RefSeq - NM_001193304
RefSeq - NM_017849
RefSeq - XM_017004450
RefSeq - XM_017004451
RefSeq Peptide - NP_001180233
RefSeq Peptide - NP_060319
swissprot - O75204
swissprot - C9J4H2
Ensembl - ENSG00000135956
  
Related genetic diseases (OMIM): 171300 - {Pheochromocytoma, susceptibility to}, 171300
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q504G0ENSDARG00000030981Danio rerio
 Q8BGP5ENSMUSG00000034850Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR033331  Transmembrane protein 127


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007032 endosome organization IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0032006 regulation of TOR signaling IEA
 biological_processGO:0032007 negative regulation of TOR signaling IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0017137 Rab GTPase binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000093 Proteinuria 
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 HP:0000096 Glomerulosclerosis 
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 HP:0000405 Hearing loss, conductive 
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 HP:0000526 Aniridia "Congenital absence of the iris." [HPO:curators]
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 HP:0000740 Anxiety (with pheochromocytoma) 
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0000980 Pallor 
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 HP:0001069 Hyperhidrosis, episodic 
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 HP:0001095 Hypertensive retinopathy 
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 HP:0001293 Cranial nerve compression 
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001342 Cerebral hemorrhage "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators]
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 HP:0001605 Vocal cord paralysis 
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 HP:0001618 Dysphonia 
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001824 Weight loss 
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 HP:0001962 Palpitations 
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 HP:0002018 Nausea 
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 HP:0002331 Headache (with pheochromocytoma) 
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 HP:0002574 Episodic abdominal pain 
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 HP:0002864 Paragangliomas, head and neck 
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 HP:0003072 Hypercalcemia "A level of blood calcium that is higher than normal." [HPO:curators]
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 HP:0003345 Elevated urinary norepinephrine 
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 HP:0003528 Elevated calcitonin 
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 HP:0003574 Positive regitine test 
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 HP:0003639 Increased urinary epinephrine 
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 HP:0005584 Renal cell carcinoma "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators]
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 HP:0006737 Pheochromocytoma, extraadrenal "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia." [HPO:curators]
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 HP:0006748 Pheochromocytoma, adrenal "Pheochromocytoma originating from the adrenal medulla." [HPO:curators]
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 HP:0008629 Pulsatile tinnitus "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus." [HPO:curators]
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 HP:0009711 Retinal hemangioblastoma "Retinal hemangioblastoma is a benign vascular tumor of the retina without any neoplastic characteristics. They have been called "retinal angiomas" and "retinal hemangiomas" but hemangioblastoma is the preferred term since they are histologically identical to lesions found in the CNS." [HPO:curators]
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 HP:0010532 Paroxysmal vertigo "Paroxysmal episodes of vertigo." [HPO:curators]
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 HP:0011703 Sinus tachycardia "Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands." [HPO:probinson, pmid:15763524]
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 HP:0011979 Elevated urinary dopamine "An increased concentration of `dopamine` (CHEBI:18243) in the `urine` (FMA:12274)." [HPO:probinson]
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 HP:0012222 Arachnoid hemangiomatosis "The presence of multiple hemangiomas in the arachnoid." [HPO:probinson]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0025269 Panic attack "A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some indiviudals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying." []
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 HP:0031284 Flushing "Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin." []
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 HP:0100749 Chest pain 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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