Human Gene RORC (ENST00000318247.7) Description and Page Index
  Description: Homo sapiens RAR related orphan receptor C (RORC), transcript variant 1, mRNA. (from RefSeq NM_005060)
RefSeq Summary (NM_005060): The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000318247.7
Gencode Gene: ENSG00000143365.19
Transcript (Including UTRs)
   Position: hg38 chr1:151,806,071-151,831,802 Size: 25,732 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr1:151,807,472-151,831,764 Size: 24,293 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:151,806,071-151,831,802)mRNA (may differ from genome)Protein (518 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCHPRDLynxMGIOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: Q6I9R9_HUMAN
DESCRIPTION: SubName: Full=RAR-related orphan receptor C; SubName: Full=RORC protein;
SIMILARITY: Belongs to the nuclear hormone receptor family.
SIMILARITY: Contains 1 nuclear receptor DNA-binding domain.

-  MalaCards Disease Associations
  MalaCards Gene Search: RORC
Diseases sorted by gene-association score: immunodeficiency 42* (1578), anus cancer (9), red color blindness (6), secondary progressive multiple sclerosis (5), behcet syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • D001564 Benzo(a)pyrene
  • D004041 Dietary Fats
  • D013749 Tetrachlorodibenzodioxin
  • C006780 bisphenol A
  • D015058 1-Naphthylisothiocyanate
  • C495626 14-deoxy-11,12-didehydroandrographolide
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C018855 2-tert-butylhydroquinone
  • C007997 25-hydroxycholesterol
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.11 RPKM in Muscle - Skeletal
Total median expression: 94.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.3038-0.350 Picture PostScript Text
3' UTR -517.901401-0.370 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008946 - Nucl_hormone_rcpt_ligand-bd
IPR000536 - Nucl_hrmn_rcpt_lig-bd_core
IPR003079 - ROR_rcpt
IPR001723 - Str_hrmn_rcpt
IPR001628 - Znf_hrmn_rcpt
IPR013088 - Znf_NHR/GATA

Pfam Domains:
PF00104 - Ligand-binding domain of nuclear hormone receptor
PF00105 - Zinc finger, C4 type (two domains)

ModBase Predicted Comparative 3D Structure on Q6I9R9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003707 steroid hormone receptor activity
GO:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007623 circadian rhythm
GO:0030522 intracellular receptor signaling pathway
GO:0043401 steroid hormone mediated signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0016604 nuclear body


-  Descriptions from all associated GenBank mRNAs
  KJ892017 - Synthetic construct Homo sapiens clone ccsbBroadEn_01411 RORC gene, encodes complete protein.
AL834219 - Homo sapiens mRNA; cDNA DKFZp667A0710 (from clone DKFZp667A0710).
AF075096 - Homo sapiens full length insert cDNA YR04H02.
AK298460 - Homo sapiens cDNA FLJ58518 complete cds, highly similar to Nuclear receptor ROR-gamma.
AK128522 - Homo sapiens cDNA FLJ46680 fis, clone TRACH3010342, moderately similar to Nuclear receptor ROR-gamma.
BC031554 - Homo sapiens RAR-related orphan receptor C, mRNA (cDNA clone MGC:34470 IMAGE:5186655), complete cds.
AK097994 - Homo sapiens cDNA FLJ40675 fis, clone THYMU2021714, highly similar to NUCLEAR RECEPTOR ROR-GAMMA.
AK223137 - Homo sapiens mRNA for RAR-related orphan receptor C isoform a variant, clone: KDN00922.
BC110571 - Homo sapiens RAR-related orphan receptor C, mRNA (cDNA clone MGC:129539 IMAGE:40001043), complete cds.
U16997 - Human orphan receptor ROR gamma mRNA, complete cds.
JD306546 - Sequence 287570 from Patent EP1572962.
JD516404 - Sequence 497428 from Patent EP1572962.
JD243816 - Sequence 224840 from Patent EP1572962.
JD147064 - Sequence 128088 from Patent EP1572962.
JD521717 - Sequence 502741 from Patent EP1572962.
JD043872 - Sequence 24896 from Patent EP1572962.
HQ692834 - Homo sapiens RAR-related orphan nuclear receptor variant 2 (NR1F3) mRNA, complete cds.
AB307696 - Homo sapiens NR1F3 mRNA for retinoid-related orphan receptor gamma, complete cds.
CR457436 - Homo sapiens full open reading frame cDNA clone RZPDo834C076D for gene RORC, RAR-related orphan receptor C; complete cds, incl. stopcodon.
AK315662 - Homo sapiens cDNA, FLJ96754, highly similar to Homo sapiens RAR-related orphan receptor C (RORC), mRNA.
DQ890805 - Synthetic construct clone IMAGE:100003435; FLH166076.01X; RZPDo839C0786D RAR-related orphan receptor C (RORC) gene, encodes complete protein.
DQ893960 - Synthetic construct Homo sapiens clone IMAGE:100008420; FLH166072.01L; RZPDo839C0785D RAR-related orphan receptor C (RORC) gene, encodes complete protein.
AM393818 - Synthetic construct Homo sapiens clone IMAGE:100002350 for hypothetical protein (RORC gene).
AM393876 - Synthetic construct Homo sapiens clone IMAGE:100002349 for hypothetical protein (RORC gene).
KY670636 - Homo sapiens RORC (RORC) mRNA, partial cds.
JD474689 - Sequence 455713 from Patent EP1572962.
JD425519 - Sequence 406543 from Patent EP1572962.
JD255690 - Sequence 236714 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_005060, Q6I9R9, Q6I9R9_HUMAN, RP11-98D18.11-001, uc001ezh.1, uc001ezh.2, uc001ezh.3, uc001ezh.4, uc001ezh.5
UCSC ID: uc001ezh.5
RefSeq Accession: NM_005060
Protein: Q6I9R9 CCDS: CCDS1004.1, CCDS30856.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.