ENSG00000185551


Homo sapiens

Features
Gene ID: ENSG00000185551
  
Biological name :NR2F2
  
Synonyms : NR2F2 / nuclear receptor subfamily 2 group F member 2 / P24468
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q26.2
Gene start: 96325938
Gene end: 96340263
  
Corresponding Affymetrix probe sets: 209119_x_at (Human Genome U133 Plus 2.0 Array)   209120_at (Human Genome U133 Plus 2.0 Array)   209121_x_at (Human Genome U133 Plus 2.0 Array)   215073_s_at (Human Genome U133 Plus 2.0 Array)   229092_at (Human Genome U133 Plus 2.0 Array)   242396_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000377726
Ensembl peptide - ENSP00000401674
Ensembl peptide - ENSP00000457112
Ensembl peptide - ENSP00000377721
Ensembl peptide - ENSP00000389853
NCBI entrez gene - 7026     See in Manteia.
OMIM - 107773
RefSeq - NM_001145155
RefSeq - NM_001145156
RefSeq - NM_001145157
RefSeq - NM_021005
RefSeq Peptide - NP_001138628
RefSeq Peptide - NP_001138627
RefSeq Peptide - NP_066285
RefSeq Peptide - NP_001138629
swissprot - P24468
swissprot - H3BTC2
swissprot - F1D8R0
Ensembl - ENSG00000185551
  
Related genetic diseases (OMIM): 615779 - Congenital heart defects, multiple types, 4, 615779

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
 nr2f2ENSDARG00000040926Danio rerio
 NR2F2ENSGALG00000007000Gallus gallus
 Nr2f2ENSMUSG00000030551Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NR2F1 / P10589 / nuclear receptor subfamily 2 group F member 1ENSG0000017574588
NR2F6 / P10588 / nuclear receptor subfamily 2 group F member 6ENSG0000016011362
RXRA / P19793 / retinoid X receptor alphaENSG0000018635038
RXRG / P48443 / retinoid X receptor gammaENSG0000014317137
RXRB / P28702 / retinoid X receptor betaENSG0000020423137
NR2C2 / P49116 / nuclear receptor subfamily 2 group C member 2ENSG0000017746336
NR2E3 / Q9Y5X4 / nuclear receptor subfamily 2 group E member 3ENSG0000027857036
NR2C1 / P13056 / nuclear receptor subfamily 2 group C member 1ENSG0000012079834
NR2E1 / Q9Y466 / nuclear receptor subfamily 2 group E member 1ENSG0000011233334
HNF4A / P41235 / hepatocyte nuclear factor 4 alphaENSG0000010107631
HNF4G / Q14541 / hepatocyte nuclear factor 4 gammaENSG0000016474930


Protein motifs (from Interpro)
Interpro ID Name
 IPR000536  Nuclear hormone receptor, ligand-binding domain
 IPR001628  Zinc finger, nuclear hormone receptor-type
 IPR001723  Nuclear hormone receptor
 IPR003068  Transcription factor COUP
 IPR013088  Zinc finger, NHR/GATA-type
 IPR035500  Nuclear hormone receptor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001764 neuron migration IEA
 biological_processGO:0001893 maternal placenta development IEA
 biological_processGO:0001937 negative regulation of endothelial cell proliferation IMP
 biological_processGO:0001945 lymph vessel development IEA
 biological_processGO:0003084 positive regulation of systemic arterial blood pressure IEA
 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 TAS
 biological_processGO:0006629 lipid metabolic process TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007519 skeletal muscle tissue development IEA
 biological_processGO:0009566 fertilization IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0009956 radial pattern formation IEA
 biological_processGO:0010596 negative regulation of endothelial cell migration IMP
 biological_processGO:0030522 intracellular receptor signaling pathway IEA
 biological_processGO:0030900 forebrain development IEA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0043401 steroid hormone mediated signaling pathway IEA
 biological_processGO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0048514 blood vessel morphogenesis IEA
 biological_processGO:0060173 limb development IEA
 biological_processGO:0060674 placenta blood vessel development IEA
 biological_processGO:0060707 trophoblast giant cell differentiation IEA
 biological_processGO:0060849 regulation of transcription involved in lymphatic endothelial cell fate commitment IMP
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001972 retinoic acid binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0003707 steroid hormone receptor activity IEA
 molecular_functionGO:0003714 transcription corepressor activity TAS
 molecular_functionGO:0004879 nuclear receptor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Transcriptional regulation of white adipocyte differentiation


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:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0001636 Tetralogy of Fallot "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators]
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 HP:0001650 Aortic stenosis "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators]
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 HP:0001680 Coarctation of aorta "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators]
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 HP:0004383 Hypoplastic left heart 
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 HP:0006695 Tricuspid and mitral valves are replaced by a single inlet valve 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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