ENSG00000164107


Homo sapiens

Features
Gene ID: ENSG00000164107
  
Biological name :HAND2
  
Synonyms : HAND2 / heart and neural crest derivatives expressed 2 / P61296
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q34.1
Gene start: 173524969
Gene end: 173530229
  
Corresponding Affymetrix probe sets: 220480_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000427084
Ensembl peptide - ENSP00000477638
Ensembl peptide - ENSP00000352565
NCBI entrez gene - 9464     See in Manteia.
OMIM - 602407
RefSeq - NM_021973
RefSeq Peptide - NP_068808
swissprot - A0A087WT70
swissprot - H0YAH1
swissprot - P61296
Ensembl - ENSG00000164107
  

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
 hand2ENSDARG00000008305Danio rerio
 HAND2ENSGALG00000030530Gallus gallus
 Hand2ENSMUSG00000038193Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HAND1 / O96004 / heart and neural crest derivatives expressed 1ENSG0000011319654
SCX / Q7RTU7 / scleraxis bHLH transcription factorENSG0000026042823
TAL1 / P17542 / TAL bHLH transcription factor 1, erythroid differentiation factorENSG0000016236722
LYL1 / P12980 / LYL1, basic helix-loop-helix family memberENSG0000010490322
Q15672 / TWIST1 / twist family bHLH transcription factor 1ENSG0000012269121
TCF15 / Q12870 / transcription factor 15ENSG0000012587820
Q8WVJ9 / TWIST2 / twist family bHLH transcription factor 2ENSG0000023360819
NHLH2 / Q02577 / nescient helix-loop-helix 2ENSG0000017755115
NHLH1 / Q02575 / nescient helix-loop-helix 1ENSG0000017178615
TAL2 / Q16559 / TAL bHLH transcription factor 2ENSG0000018605114


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:0001525 angiogenesis IEA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001947 heart looping IEA
 biological_processGO:0001967 suckling behavior IEA
 biological_processGO:0003007 heart morphogenesis IEA
 biological_processGO:0003219 cardiac right ventricle formation IEA
 biological_processGO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis IEA
 biological_processGO:0003266 regulation of secondary heart field cardioblast proliferation IEA
 biological_processGO:0003278 apoptotic process involved in heart morphogenesis IEA
 biological_processGO:0003357 noradrenergic neuron differentiation NAS
 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:0007275 multicellular organism development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0007512 adult heart development IEA
 biological_processGO:0010463 mesenchymal cell proliferation IEA
 biological_processGO:0010613 positive regulation of cardiac muscle hypertrophy IGI
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0010667 negative regulation of cardiac muscle cell apoptotic process IEA
 biological_processGO:0014032 neural crest cell development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0034103 regulation of tissue remodeling IDA
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IEA
 biological_processGO:0042733 embryonic digit morphogenesis IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043392 negative regulation of DNA binding IEA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0043586 tongue development IEA
 biological_processGO:0045668 negative regulation of osteoblast differentiation IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048485 sympathetic nervous system development IEA
 biological_processGO:0048538 thymus development IEA
 biological_processGO:0048935 peripheral nervous system neuron development IEA
 biological_processGO:0060021 roof of mouth development IEA
 biological_processGO:0060485 mesenchyme development IEA
 biological_processGO:0060536 cartilage morphogenesis IEA
 biological_processGO:0060982 coronary artery morphogenesis IEA
 biological_processGO:0061032 visceral serous pericardium development IEA
 biological_processGO:0061309 cardiac neural crest cell development involved in outflow tract morphogenesis IEA
 biological_processGO:0061325 cell proliferation involved in outflow tract morphogenesis IEA
 biological_processGO:0061371 determination of heart left/right asymmetry IEA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IMP
 biological_processGO:1900745 positive regulation of p38MAPK cascade IMP
 biological_processGO:1903929 primary palate development IEA
 biological_processGO:2000679 positive regulation of transcription regulatory region DNA binding IDA
 biological_processGO:2000763 positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process IEA
 biological_processGO:2000764 positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis IEA
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003680 AT DNA binding IDA
 molecular_functionGO:0003713 transcription coactivator activity ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0033613 activating transcription factor binding ISS
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0070888 E-box binding IEA


Pathways (from Reactome)
Pathway description
Transcriptional regulation by RUNX2


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  / complex / reaction






 

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