ENSG00000135547


Homo sapiens

Features
Gene ID: ENSG00000135547
  
Biological name :HEY2
  
Synonyms : hes related family bHLH transcription factor with YRPW motif 2 / HEY2 / Q9UBP5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q22.31
Gene start: 125747664
Gene end: 125761269
  
Corresponding Affymetrix probe sets: 219743_at (Human Genome U133 Plus 2.0 Array)   222921_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357348
Ensembl peptide - ENSP00000357349
NCBI entrez gene - 23493     See in Manteia.
OMIM - 604674
RefSeq - XM_017010629
RefSeq - NM_012259
RefSeq - XM_017010627
RefSeq - XM_017010628
RefSeq Peptide - NP_036391
swissprot - Q5TF93
swissprot - Q9UBP5
Ensembl - ENSG00000135547
  

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
 hey2ENSDARG00000013441Danio rerio
 HEY2ENSGALG00000034716Gallus gallus
 Hey2ENSMUSG00000019789Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HEY1 / Q9Y5J3 / hes related family bHLH transcription factor with YRPW motif 1ENSG0000016468350
HEYL / Q9NQ87 / hes related family bHLH transcription factor with YRPW motif-likeENSG0000016390939
HELT / A6NFD8 / helt bHLH transcription factorENSG0000018782119


Protein motifs (from Interpro)
Interpro ID Name
 IPR003650  Orange domain
 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:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001568 blood vessel development IEA
 biological_processGO:0001570 vasculogenesis IEA
 biological_processGO:0003150 muscular septum morphogenesis IEA
 biological_processGO:0003151 outflow tract morphogenesis IEA
 biological_processGO:0003171 atrioventricular valve development IEA
 biological_processGO:0003184 pulmonary valve morphogenesis IEA
 biological_processGO:0003186 tricuspid valve morphogenesis IEA
 biological_processGO:0003195 tricuspid valve formation IEA
 biological_processGO:0003199 endocardial cushion to mesenchymal transition involved in heart valve formation IEA
 biological_processGO:0003208 cardiac ventricle morphogenesis IEA
 biological_processGO:0003214 cardiac left ventricle morphogenesis IEA
 biological_processGO:0003215 cardiac right ventricle morphogenesis IEA
 biological_processGO:0003222 ventricular trabecula myocardium morphogenesis IEA
 biological_processGO:0003300 cardiac muscle hypertrophy IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007219 Notch signaling pathway ISS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007389 pattern specification process IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0009948 anterior/posterior axis specification IEA
 biological_processGO:0010460 positive regulation of heart rate IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010621 negative regulation of transcription by transcription factor localization ISS
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0010667 negative regulation of cardiac muscle cell apoptotic process IEA
 biological_processGO:0014031 mesenchymal cell development IEA
 biological_processGO:0014898 cardiac muscle hypertrophy in response to stress IEA
 biological_processGO:0035910 ascending aorta morphogenesis IEA
 biological_processGO:0035912 dorsal aorta morphogenesis IEA
 biological_processGO:0036304 umbilical cord morphogenesis IEA
 biological_processGO:0045165 cell fate commitment IEA
 biological_processGO:0045607 regulation of inner ear auditory receptor cell differentiation IEA
 biological_processGO:0045746 negative regulation of Notch signaling pathway IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0051145 smooth muscle cell differentiation NAS
 biological_processGO:0055015 ventricular cardiac muscle cell development IEA
 biological_processGO:0060045 positive regulation of cardiac muscle cell proliferation IEA
 biological_processGO:0060317 cardiac epithelial to mesenchymal transition IEA
 biological_processGO:0060347 heart trabecula formation IEA
 biological_processGO:0060411 cardiac septum morphogenesis IEA
 biological_processGO:0060412 ventricular septum morphogenesis IEA
 biological_processGO:0060413 atrial septum morphogenesis IEA
 biological_processGO:0060633 negative regulation of transcription initiation from RNA polymerase II promoter IDA
 biological_processGO:0060716 labyrinthine layer blood vessel development IEA
 biological_processGO:0060840 artery development IEA
 biological_processGO:0060842 arterial endothelial cell differentiation IEA
 biological_processGO:0060948 cardiac vascular smooth muscle cell development IEA
 biological_processGO:0060977 coronary vasculature morphogenesis IEA
 biological_processGO:0061156 pulmonary artery morphogenesis IEA
 biological_processGO:0061314 Notch signaling involved in heart development IC
 biological_processGO:0065004 protein-DNA complex assembly IEA
 biological_processGO:0090102 cochlea development IEA
 biological_processGO:0097084 vascular smooth muscle cell development IEP
 biological_processGO:2000678 negative regulation of transcription regulatory region DNA binding IEA
 biological_processGO:2000723 negative regulation of cardiac vascular smooth muscle cell differentiation ISS
 biological_processGO:2000820 negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation IEA
 biological_processGO:2001212 regulation of vasculogenesis IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016580 Sin3 complex IDA
 cellular_componentGO:0017053 transcriptional repressor complex IDA
 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:0000989 transcription factor activity, transcription factor binding IDA
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding IPI
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0035939 microsatellite binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0042826 histone deacetylase binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
NOTCH1 Intracellular Domain Regulates Transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
RUNX2 regulates osteoblast differentiation
NOTCH3 Intracellular Domain Regulates Transcription
NOTCH4 Intracellular Domain Regulates Transcription


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124813 RUNX2 / Q13950 / runt related transcription factor 2  / reaction / complex






 

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