ENSG00000260596


Homo sapiens

Features
Gene ID: ENSG00000260596
  
Biological name :DUX4
  
Synonyms : double homeobox 4 / DUX4 / Q9UBX2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q35.2
Gene start: 190173774
Gene end: 190185942
  
Corresponding Affymetrix probe sets: 208201_at (Human Genome U133 Plus 2.0 Array)   216473_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000455112
Ensembl peptide - ENSP00000483555
Ensembl peptide - ENSP00000458065
Ensembl peptide - ENSP00000456539
NCBI entrez gene - 100288687     See in Manteia.
OMIM - 606009
RefSeq - XM_011531514
RefSeq - NM_001293798
RefSeq - NM_001306068
RefSeq Peptide - NP_001280727
RefSeq Peptide - NP_001292997
swissprot - E2JJS1
swissprot - C3U3A0
swissprot - Q9UBX2
Ensembl - ENSG00000260596
  

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
 AW822073ENSMUSG00000058537Mus musculus
 Duxf3ENSMUSG00000075046Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DUXA / A6NLW8 / double homeobox AENSG0000025887317
DUXB / double homeobox BENSG0000028275717


Protein motifs (from Interpro)
Interpro ID Name
 IPR000047  Helix-turn-helix motif
 IPR001356  Homeobox domain
 IPR009057  Homeobox-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006915 apoptotic process IDA
 biological_processGO:0008285 negative regulation of cell proliferation IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0070317 negative regulation of G0 to G1 transition IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0031965 nuclear membrane IDA
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000298 Mask-like facies 
Show

 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000499 Abnormality of the eyelashes "An abnormality of the `eyelashes` (FMA:53669)." [HPO:probinson]
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003307 Hyperlordosis 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0008046 Abnormality of the retinal vasculature 
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 HP:0030680 Abnormality of cardiovascular system morphology "Any structural anomaly of the heart and great vessels." []
Show

 HP:0100540 Palpebral edema 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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