ENSG00000139083


Homo sapiens

Features
Gene ID: ENSG00000139083
  
Biological name :ETV6
  
Synonyms : ETS variant 6 / ETV6 / P41212
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: p13.2
Gene start: 11649854
Gene end: 11895402
  
Corresponding Affymetrix probe sets: 205585_at (Human Genome U133 Plus 2.0 Array)   225764_at (Human Genome U133 Plus 2.0 Array)   235056_at (Human Genome U133 Plus 2.0 Array)   239740_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000441463
Ensembl peptide - ENSP00000266427
Ensembl peptide - ENSP00000379658
NCBI entrez gene - 2120     See in Manteia.
OMIM - 600618
RefSeq - XM_017018991
RefSeq - XM_011520607
RefSeq - XM_011520608
RefSeq - XM_011520609
RefSeq - XM_011520611
RefSeq - XM_017018990
RefSeq - NM_001987
RefSeq Peptide - NP_001978
swissprot - H0YG25
swissprot - J3KN52
swissprot - A0A0S2Z3C9
swissprot - P41212
Ensembl - ENSG00000139083
  
Related genetic diseases (OMIM): 601626 - Leukemia, acute myeloid, somatic, 601626
  616216 - Thrombocytopenia 5, 616216

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
 ETV6ENSGALG00000012921Gallus gallus
 Etv6ENSMUSG00000030199Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ETV7 / Q9Y603 / ETS variant 7ENSG0000001003037
SPDEF / O95238 / SAM pointed domain containing ETS transcription factorENSG0000012466417
ELF3 / P78545 / E74 like ETS transcription factor 3ENSG0000016343515
ELF2 / Q15723 / E74 like ETS transcription factor 2ENSG0000010938114
EHF / Q9NZC4 / ETS homologous factorENSG0000013537314
ELF1 / P32519 / E74 like ETS transcription factor 1ENSG0000012069013
ELF4 / Q99607 / E74 like ETS transcription factor 4ENSG0000010203413
ELF5 / Q9UKW6 / E74 like ETS transcription factor 5ENSG0000013537413


Protein motifs (from Interpro)
Interpro ID Name
 IPR000418  Ets domain
 IPR003118  Pointed domain
 IPR013761  Sterile alpha motif/pointed domain superfamily
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 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:0007296 vitellogenesis IEA
 biological_processGO:0022008 neurogenesis IEA
 biological_processGO:0030154 cell differentiation IBA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0071425 hematopoietic stem cell proliferation IMP
 biological_processGO:0097152 mesenchymal cell apoptotic process IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 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 IBA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IC
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000421 Epistaxis 
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 HP:0000967 Petechiae 
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 HP:0000978 Ecchymoses 
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 HP:0001873 Thrombocytopenia 
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 HP:0001875 Neutropenia 
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 HP:0001903 Anemia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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