ENSG00000125952


Homo sapiens

Features
Gene ID: ENSG00000125952
  
Biological name :MAX
  
Synonyms : MAX / MYC associated factor X / P61244
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q23.3
Gene start: 65006174
Gene end: 65102695
  
Corresponding Affymetrix probe sets: 208403_x_at (Human Genome U133 Plus 2.0 Array)   209331_s_at (Human Genome U133 Plus 2.0 Array)   209332_s_at (Human Genome U133 Plus 2.0 Array)   210734_x_at (Human Genome U133 Plus 2.0 Array)   214108_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000452405
Ensembl peptide - ENSP00000452378
Ensembl peptide - ENSP00000480127
Ensembl peptide - ENSP00000246163
Ensembl peptide - ENSP00000284165
Ensembl peptide - ENSP00000342482
Ensembl peptide - ENSP00000351175
Ensembl peptide - ENSP00000351490
Ensembl peptide - ENSP00000378104
Ensembl peptide - ENSP00000450763
Ensembl peptide - ENSP00000450818
Ensembl peptide - ENSP00000450955
Ensembl peptide - ENSP00000451907
Ensembl peptide - ENSP00000452197
Ensembl peptide - ENSP00000452206
Ensembl peptide - ENSP00000452286
NCBI entrez gene - 4149     See in Manteia.
OMIM - 154950
RefSeq - NM_002382
RefSeq - NM_001271068
RefSeq - NM_001271069
RefSeq - NM_001320415
RefSeq - NM_145112
RefSeq - NM_145113
RefSeq - NM_145114
RefSeq - NM_197957
RefSeq - XM_011536773
RefSeq - XM_017021312
RefSeq - XM_017021313
RefSeq Peptide - NP_001257998
RefSeq Peptide - NP_001307344
RefSeq Peptide - NP_932061
RefSeq Peptide - NP_001257997
RefSeq Peptide - NP_002373
RefSeq Peptide - NP_660087
RefSeq Peptide - NP_660088
RefSeq Peptide - NP_660089
swissprot - G3V5L1
swissprot - A0A024R682
swissprot - P61244
swissprot - Q6V3B1
swissprot - G3V2N4
swissprot - G3V2R5
swissprot - G3V302
swissprot - G3V563
swissprot - G3V570
Ensembl - ENSG00000125952
  
Related genetic diseases (OMIM): 171300 - {Pheochromocytoma, susceptibility to}, 171300

This gene has been taged as a transcription factor by TFT
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
 maxENSDARG00000024844Danio rerio
 MAXENSGALG00000032249Gallus gallus
 MaxENSMUSG00000059436Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000082 G1/S transition of mitotic cell cycle TAS
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0009267 cellular response to starvation IEA
 biological_processGO:0010243 response to organonitrogen compound IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0032868 response to insulin IEA
 biological_processGO:0048678 response to axon injury IEA
 biological_processGO:0051402 neuron apoptotic process IEA
 biological_processGO:0060041 retina development in camera-type eye IEA
 biological_processGO:0070317 negative regulation of G0 to G1 transition TAS
 biological_processGO:0071375 cellular response to peptide hormone stimulus IEA
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016605 PML body IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0032993 protein-DNA complex IMP
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0071339 MLL1 complex IDA
 cellular_componentGO:0090575 RNA polymerase II transcription factor complex IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IMP
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003712 transcription coregulator activity TAS
 molecular_functionGO:0003713 transcription coactivator activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IMP
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0070888 E-box binding IMP


Pathways (from Reactome)
Pathway description
Transcription of E2F targets under negative control by DREAM complex
Cyclin E associated events during G1/S transition
Cyclin A:Cdk2-associated events at S phase entry
Transcriptional Regulation by E2F6


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000093 Proteinuria 
Show

 HP:0000096 Glomerulosclerosis 
Show

 HP:0000405 Hearing loss, conductive 
Show

 HP:0000526 Aniridia "Congenital absence of the iris." [HPO:curators]
Show

 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]
Show

 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]
Show

 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]
Show

 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]
Show

 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]
Show

 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]
Show

 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." []
Show

 HP:0031284 Flushing "Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin." []
Show

 HP:0100749 Chest pain 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100395 Q969R5 / L3MBTL2 / L3MBTL2, polycomb repressive complex 1 subunit  / reaction / complex
 ENSG00000174197 MGA / Q8IWI9 / MGA, MAX dimerization protein  / complex
 ENSG00000169016 E2F6 / O75461 / E2F transcription factor 6  / reaction / complex
 ENSG00000122565 CBX3 / Q13185 / chromobox 3  / complex / reaction
 ENSG00000198176 TFDP1 / Q14186 / transcription factor Dp-1  / complex / reaction
 ENSG00000136997 MYC / P01106 / MYC proto-oncogene, bHLH transcription factor  / complex
 ENSG00000156374 PCGF6 / Q9BYE7 / polycomb group ring finger 6  / complex / reaction
 ENSG00000015153 YAF2 / Q8IY57 / YY1 associated factor 2  / complex / reaction
 ENSG00000181090 EHMT1 / Q9H9B1 / euchromatic histone lysine methyltransferase 1  / complex / reaction
 ENSG00000121481 RNF2 / Q99496 / ring finger protein 2  / reaction / complex
 ENSG00000204227 RING1 / Q06587 / ring finger protein 1  / complex / reaction
 ENSG00000204371 EHMT2 / Q96KQ7 / euchromatic histone lysine methyltransferase 2  / reaction / complex






 

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