ENSG00000151623


Homo sapiens

Features
Gene ID: ENSG00000151623
  
Biological name :NR3C2
  
Synonyms : NR3C2 / nuclear receptor subfamily 3 group C member 2 / P08235
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q31.23
Gene start: 148078762
Gene end: 148444698
  
Corresponding Affymetrix probe sets: 205259_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000343907
Ensembl peptide - ENSP00000486719
Ensembl peptide - ENSP00000423510
Ensembl peptide - ENSP00000421481
Ensembl peptide - ENSP00000350815
Ensembl peptide - ENSP00000341390
NCBI entrez gene - 4306     See in Manteia.
OMIM - 600983
RefSeq - XM_011531977
RefSeq - XM_011531975
RefSeq - XM_011531976
RefSeq - NM_000901
RefSeq - NM_001166104
RefSeq - XM_017008217
RefSeq Peptide - NP_001159576
RefSeq Peptide - NP_000892
RefSeq Peptide - NP_001341748
swissprot - P08235
swissprot - B0ZBF8
swissprot - A0A0D9SFL9
swissprot - B0ZBF6
Ensembl - ENSG00000151623
  
Related genetic diseases (OMIM): 177735 - Pseudohypoaldosteronism type I, autosomal dominant, 177735
  605115 - Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115

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
 nr3c2ENSDARG00000102082Danio rerio
 NR3C2ENSGALG00000010035Gallus gallus
 Nr3c2ENSMUSG00000031618Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NR3C1 / P04150 / nuclear receptor subfamily 3 group C member 1ENSG0000011358032
PGR / P06401 / progesterone receptorENSG0000008217530
AR / P10275 / androgen receptorENSG0000016908326
NR4A1 / P22736 / nuclear receptor subfamily 4 group A member 1ENSG0000012335813
ESR2 / Q92731 / estrogen receptor 2ENSG0000014000913
NR4A2 / P43354 / nuclear receptor subfamily 4 group A member 2ENSG0000015323412
ESR1 / P03372 / estrogen receptor 1ENSG0000009183112
ESRRA / P11474 / estrogen related receptor alphaENSG0000017315312
NR4A3 / Q92570 / nuclear receptor subfamily 4 group A member 3ENSG0000011950812
ESRRB / O95718 / estrogen related receptor betaENSG0000011971511
ESRRG / P62508 / estrogen related receptor gammaENSG0000019648211


Protein motifs (from Interpro)
Interpro ID Name
 IPR000536  Nuclear hormone receptor, ligand-binding domain
 IPR001628  Zinc finger, nuclear hormone receptor-type
 IPR013088  Zinc finger, NHR/GATA-type
 IPR035500  Nuclear hormone receptor-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:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0043401 steroid hormone mediated signaling pathway IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0043235 receptor complex IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003707 steroid hormone receptor activity TAS
 molecular_functionGO:0005496 steroid binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
HSP90 chaperone cycle for steroid hormone receptors (SHR)
SUMOylation of intracellular receptors


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:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000841 Hyperactive renin-angiotensin system 
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 HP:0000848 Increased plasma renin 
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 HP:0000859 Increased plasma aldosterone 
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 HP:0001508 Failure to thrive 
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 HP:0001942 Metabolic acidosis 
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 HP:0001944 Dehydration 
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 HP:0002013 Vomiting 
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 HP:0002014 Diarrhea 
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 HP:0002153 Hyperkalemia 
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 HP:0002615 Hypotension 
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 HP:0002902 Hyponatremia 
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 HP:0003351 Decreased renin 
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 HP:0003593 Early onset 
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 HP:0003812 Phenotypic variability 
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 HP:0004319 Decreased aldosterone production 
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 HP:0008071 Maternal hypertension 
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 HP:0008242 Pseudohypoaldosteronism 
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000004478 FKBP4 / Q02790 / FK506 binding protein 4  / complex
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / complex
 ENSG00000110958 PTGES3 / Q15185 / prostaglandin E synthase 3  / complex
 ENSG00000096384 P08238 / HSP90AB1 / heat shock protein 90 alpha family class B member 1  / complex
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / reaction






 

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