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    RORC RAR related orphan receptor C [ Homo sapiens (human) ]

    Gene ID: 6097, updated on 3-Jul-2016
    Official Symbol
    RORCprovided by HGNC
    Official Full Name
    RAR related orphan receptor Cprovided by HGNC
    Primary source
    HGNC:HGNC:10260
    See related
    Ensembl:ENSG00000143365 HPRD:04250; MIM:602943; Vega:OTTHUMG00000013053
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TOR; RORG; RZRG; IMD42; NR1F3; RZR-GAMMA
    Summary
    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]
    Orthologs
    Location:
    1q21
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (151806071..151832450, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151778547..151804348, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tudor and KH domain containing Neighboring gene chloride nucleotide-sensitive channel 1A pseudogene Neighboring gene leucine rich repeat and Ig domain containing 4 Neighboring gene uncharacterized LOC100132111 Neighboring gene C2 calcium dependent domain containing 4D Neighboring gene thioesterase superfamily member 5

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Immunodeficiency 42
    MedGen: CN233197 OMIM: 616622 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    • Circadian rhythm, organism-specific biosystem (from KEGG)
      Circadian rhythm, organism-specific biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
    • Circadian rhythm, conserved biosystem (from KEGG)
      Circadian rhythm, conserved biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Inflammatory bowel disease (IBD), organism-specific biosystem (from KEGG)
      Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Inflammatory bowel disease (IBD), conserved biosystem (from KEGG)
      Inflammatory bowel disease (IBD), conserved biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
      Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
    • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
      Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC129539

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxysterol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    steroid hormone receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, direct ligand regulated sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    T-helper 17 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    adipose tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to sterol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of glucose metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of steroid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription involved in cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    steroid hormone mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    xenobiotic metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    nuclear receptor ROR-gamma
    Names
    RAR-related orphan nuclear receptor variant 2
    RAR-related orphan receptor C
    RAR-related orphan receptor C, isoform a
    nuclear receptor RZR-gamma
    nuclear receptor subfamily 1 group F member 3
    retinoic acid-binding receptor gamma
    retinoid-related orphan receptor gamma

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029118.1 RefSeqGene

      Range
      5001..30802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001523.1NP_001001523.1  nuclear receptor ROR-gamma isoform b

      See identical proteins and their annotated locations for NP_001001523.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus compared to isoform a.
      Source sequence(s)
      AL834219, CB161467
      Consensus CDS
      CCDS30856.1
      UniProtKB/Swiss-Prot
      P51449
      UniProtKB/TrEMBL
      F1D8P6
      Related
      ENSP00000349164, OTTHUMP00000015254, ENST00000356728, OTTHUMT00000036627
      Conserved Domains (2) summary
      cd06939
      Location:247485
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:497
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
    2. NM_005060.3NP_005051.2  nuclear receptor ROR-gamma isoform a

      See identical proteins and their annotated locations for NP_005051.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL834219, AW004872, BC031554, BI520481, CB161467, U16997
      Consensus CDS
      CCDS1004.1
      UniProtKB/Swiss-Prot
      P51449
      UniProtKB/TrEMBL
      Q6I9R9
      Related
      ENSP00000327025, OTTHUMP00000015253, ENST00000318247, OTTHUMT00000036626
      Conserved Domains (2) summary
      cd06939
      Location:268506
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:24118
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      151806071..151832450 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711484.3XP_006711547.2  

      Conserved Domains (2) summary
      cd06939
      Location:401639
      NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
      cd06968
      Location:157251
      NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      153173871..153199672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)