ENSG00000143365


Homo sapiens

Features
Gene ID: ENSG00000143365
  
Biological name :RORC
  
Synonyms : P51449 / RAR related orphan receptor C / RORC
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q21.3
Gene start: 151806071
Gene end: 151831872
  
Corresponding Affymetrix probe sets: 206419_at (Human Genome U133 Plus 2.0 Array)   228806_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000492395
Ensembl peptide - ENSP00000327025
Ensembl peptide - ENSP00000349164
NCBI entrez gene - 6097     See in Manteia.
OMIM - 602943
RefSeq - XM_006711484
RefSeq - NM_001001523
RefSeq - NM_005060
RefSeq Peptide - NP_001001523
RefSeq Peptide - NP_005051
swissprot - A0A1W2PRM4
swissprot - P51449
swissprot - F1D8P6
swissprot - Q6I9R9
Ensembl - ENSG00000143365
  
Related genetic diseases (OMIM): 616622 - Immunodeficiency 42, 616622

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
 rorcENSDARG00000087195Danio rerio
 RORCENSGALG00000033941Gallus gallus
 RorcENSMUSG00000028150Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RORA / P35398 / RAR related orphan receptor AENSG0000006966747
RORB / Q92753 / RAR related orphan receptor BENSG0000019896347
NR1D2 / Q14995 / nuclear receptor subfamily 1 group D member 2ENSG0000017473828
NR1D1 / P20393 / nuclear receptor subfamily 1 group D member 1ENSG0000012636827
PPARG / P37231 / peroxisome proliferator activated receptor gammaENSG0000013217022
PPARD / Q03181 / peroxisome proliferator activated receptor deltaENSG0000011203322
PPARA / Q07869 / peroxisome proliferator activated receptor alphaENSG0000018695121
NR5A2 / O00482 / nuclear receptor subfamily 5 group A member 2ENSG0000011683320
NR5A1 / Q13285 / nuclear receptor subfamily 5 group A member 1ENSG0000013693118
NR6A1 / Q15406 / nuclear receptor subfamily 6 group A member 1ENSG0000014820018


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
 IPR003079  Nuclear receptor ROR
 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:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0006805 xenobiotic metabolic process ISS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007623 circadian rhythm IEA
 biological_processGO:0010906 regulation of glucose metabolic process ISS
 biological_processGO:0019218 regulation of steroid metabolic process ISS
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030522 intracellular receptor signaling pathway IEA
 biological_processGO:0032922 circadian regulation of gene expression ISS
 biological_processGO:0036315 cellular response to sterol IDA
 biological_processGO:0042753 positive regulation of circadian rhythm ISS
 biological_processGO:0043401 steroid hormone mediated signaling pathway IEA
 biological_processGO:0045598 regulation of fat cell differentiation ISS
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0048511 rhythmic process IEA
 biological_processGO:0060612 adipose tissue development ISS
 biological_processGO:0060850 regulation of transcription involved in cell fate commitment ISS
 biological_processGO:0072539 T-helper 17 cell differentiation ISS
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0016604 nuclear body IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity ISS
 molecular_functionGO:0003707 steroid hormone receptor activity IEA
 molecular_functionGO:0004879 nuclear receptor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008142 oxysterol binding IDA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0098531 transcription factor activity, direct ligand regulated sequence-specific DNA binding IDA


Pathways (from Reactome)
Pathway description
Nuclear Receptor transcription pathway
Interleukin-4 and Interleukin-13 signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000778 Thymus hypoplasia "Underdevelopment of the thymus." [HPO:curators]
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 HP:0003593 Early onset 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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