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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RORC Gene

protein-coding   GIFtS: 63
GCID: GC01M151778

RAR-Related Orphan Receptor C

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
RAR-Related Orphan Receptor C1 2     TOR2
RORG2 3 5     Nuclear Receptor ROR-Gamma2
RZRG2 3 5     RAR-Related Orphan Nuclear Receptor Variant 22
Nuclear Receptor RZR-Gamma2 3     Retinoic Acid-Binding Receptor Gamma2
Nuclear Receptor Subfamily 1 Group F Member 32 3     Retinoid-Related Orphan Receptor Gamma2
NR1F32 3     Retinoid-Related Orphan Receptor-Gamma3
RZR-GAMMA2     

External Ids:    HGNC: 102601   Entrez Gene: 60972   Ensembl: ENSG000001433657   OMIM: 6029435   UniProtKB: P514493   

Export aliases for RORC gene to outside databases

Previous GC identifers: GC01M149620 GC01M147561 GC01M148553 GC01M148995 GC01M148997 GC01M148592 GC01M150040 GC01M150046 GC01M123155


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RORC Gene:
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)

GeneCards Summary for RORC Gene: 
RORC (RAR-related orphan receptor C) is a protein-coding gene. Diseases associated with RORC include red color blindness, and anus neoplasm, and among its related super-pathways are Nuclear Receptors and Cytokine production by Th17 cells in CF. GO annotations related to this gene include ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NR1D2.

UniProtKB/Swiss-Prot: RORG_HUMAN, P51449
Function: Possible nuclear receptor for hydroxycholesterols, the binding of which strongly promotes coactivators
recruitment. Essential for thymopoiesis and the development of several secondary lymphoid tissues, including
lymph nodes. Involved in lineage specification of uncommitted CD4(+) T-helper cells into Th17 cells. Regulate the
expression of several components of the circadian clock

Gene Wiki entry for RORC (RAR-related orphan receptor gamma) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RORC gene promoter:
         AP-1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RORC promoter sequence
   Search SABiosciences Chromatin IP Primers for RORC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RORC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21

RORC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RORC gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M151778:  view genomic region     (about GC identifiers)

Start:
151,778,547 bp from pter      End:
151,804,348 bp from pter
Size:
25,802 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RORG_HUMAN, P51449 (See protein sequence)
Recommended Name: Nuclear receptor ROR-gamma  
Size: 518 amino acids; 58195 Da
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=AAA64751.1; Type=Frameshift; Positions=516;
4 PDB 3D structures from and Proteopedia for RORC:
3B0W (3D)        3KYT (3D)        3L0J (3D)        3L0L (3D)    
Secondary accessions: Q5SZR9 Q8N5V7 Q8NCY8
Alternative splicing: 2 isoforms:  P51449-1   P51449-2   

Explore the universe of human proteins at neXtProt for RORC: NX_P51449

Explore proteomics data for RORC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51449

  • RORC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RORC Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001001523.1  NP_005051.2  

    ENSEMBL proteins: 
     ENSP00000349164   ENSP00000327025   ENSP00000376461  
    Reactome Protein details: P51449
    Human Recombinant Protein Products for RORC: 
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    Novus Biologicals RORC Proteins
    Novus Biologicals RORC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for RORC
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--

    RORC for ontologies           About GeneDecksing



    RORC Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    NR: Nuclear hormone receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: RAR-related orphan receptor-&gamma 
    1F. RAR-related orphan receptors

    5/6 InterPro protein domains (see all 6):
     IPR013088 Znf_NHR/GATA
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core
     IPR001628 Znf_hrmn_rcpt
     IPR001723 Str_hrmn_rcpt

    Graphical View of Domain Structure for InterPro Entry P51449

    ProtoNet protein and cluster: P51449

    2 Blocks protein domains:
    IPB001723 Steroid hormone receptor signature
    IPB003079 Nuclear receptor ROR family (1F nuclear receptor) signature


    UniProtKB/Swiss-Prot: RORG_HUMAN, P51449
    Similarity: Belongs to the nuclear hormone receptor family. NR1 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    RORC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RORG_HUMAN, P51449
    Function: Possible nuclear receptor for hydroxycholesterols, the binding of which strongly promotes coactivators
    recruitment. Essential for thymopoiesis and the development of several secondary lymphoid tissues, including
    lymph nodes. Involved in lineage specification of uncommitted CD4(+) T-helper cells into Th17 cells. Regulate the
    expression of several components of the circadian clock

         Genatlas biochemistry entry for RORC:
    RAR related orphan receptor,ligand activated transcription factor,highly expressed in skeletal
    muscle,steroid/thyroid retinoic receptor superfamily

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS7811290
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003707steroid hormone receptor activity IEA--
    GO:0004879ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity IEA--
    GO:0005515protein binding IPI--
         
    RORC for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RORC:
     Increased cell number in G1, a 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rorc):
     cellular  digestive/alimentary  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  no phenotypic analysis 

    RORC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RORC: Rorctm1Litt Rorctm1Amj

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RORC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RORC

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    SwitchGear 3'UTR luciferase reporter plasmidRORC 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RORC About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.68
    Nuclear Receptors0.68
    2Cytokine production by Th17 cells in CF (Mouse model)
    Cytokine production by Th17 cells in CF0.72
    Cytokine production by Th17 cells in CF (Mouse model)0.72
    3Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47
    4Th17 Differentiation
    IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types0.47
    Th17 Differentiation0.47
    5Development PDGF signaling via STATs and NF-kB
    Immune response IL-23 signaling pathway0.91

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for RORC
        IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Th17 Differentiation

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RORC
        Melatonin Signaling

    4 GeneGo (Thomson Reuters) Pathways for RORC
        Cytokine production by Th17 cells in CF (Mouse model)
    Cytokine production by Th17 cells in CF
    Mucin expression in CF via IL-6, IL-17 signaling pathways
    Immune response IL-23 signaling pathway

    1 BioSystems Pathway for RORC
        Nuclear Receptors


    3        Reactome Pathways for RORC
        Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Gene Expression


    2         Kegg Pathways  (Kegg details for RORC):
        Circadian rhythm
    Inflammatory bowel disease (IBD)


    RORC for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RORC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/58 Interacting proteins for RORC (P514491, 3 ENSP000003270254) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF4EBP1Q135413, ENSP000003406914I2D: score=1 STRING: ENSP00000340691
    CHD4Q148393, ENSP000003495084I2D: score=1 STRING: ENSP00000349508
    NCOA6Q146863I2D: score=3 
    EIF3IQ133473I2D: score=1 
    EWSR1Q018443I2D: score=1 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0006468protein phosphorylation IEA--
    GO:0010467gene expression TAS--
    GO:0030154cell differentiation ----

    RORC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RORC (RORG)

    3 IUPHAR Ligands for RORC (RAR-related orphan receptor-&gamma)    About this table 
    LigandTypeActionAffinityPubmed IDs
    25-hydroxycholesterol
    Agonist20203100
    ALRT 1550
    AntagonistAntagonist12958591
    all-trans-retinoic acid
    AntagonistAntagonist12958591

    Search CenterWatch for drugs/clinical trials and news about RORC / RORG

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RORC gene (2 alternative transcripts): 
    NM_001001523.1  NM_005060.3  

    Unigene Cluster for RORC:

    RAR-related orphan receptor C
    Hs.256022  [show with all ESTs]
    Unigene Representative Sequence: NM_005060
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356728(uc001ezg.3 uc001ezh.3 uc010pdo.2 uc010pdp.2)
    ENST00000318247 ENST00000480719 ENST00000392697
    miRNA
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    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate RORC (see all 38):
    hsa-miR-607 hsa-let-7d hsa-miR-106a hsa-miR-519a hsa-miR-3921 hsa-miR-10b* hsa-miR-4314 hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidRORC 3' UTR sequence
    Inhib. RNA
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      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RORC

    Additional mRNA sequence: 

    AB307696.1 AF075096.1 AK097994.1 AK223137.1 AK298460.1 AK315662.1 AL834219.1 BC031554.1 
    BC110571.2 CR457436.1 HQ692834.1 U16997.1 

    4 DOTS entries:

    DT.211192  DT.102842425  DT.101976876  DT.121326057 

    24/71 AceView cDNA sequences (see all 71):

    NM_005060 BC031554 H59326 BU526834 CR457436 AK097994 BX091308 BM967010 
    BI256620 CD619720 AL834219 BQ447902 NM_001001523 AA286679 CB150444 BP368095 
    AK128522 BM967033 BM856735 BP368501 AF075096 AI193052 AI218580 BP356797 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for RORC (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
    SP1:        -     -     -                 -                 -           -                                             
    SP2:                    -                 -                 -           -                                             
    SP3:                                                        -                                                         
    SP4:                                                                                                                  
    SP5:                    -                                                                                             


    ECgene alternative splicing isoforms for RORC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RORC expression in normal human tissues (normalized intensities)      RORC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RORC Expression
    About this image


    RORC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus

    See RORC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RORC

    SOURCE GeneReport for Unigene cluster: Hs.256022

    UniProtKB/Swiss-Prot: RORG_HUMAN, P51449
    Tissue specificity: Isoform 1 is widely expressed in many tissues, including liver and adipose, and highly
    expressed in skeletal muscle. Isoform 2 is primarily expressed in immature thymocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including RORC: 
              Innate & Adaptive Immune Responses in human mouse rat
              Th17 Response in human mouse rat
              Circadian Rhythms in human mouse rat
              T Helper Cell Differentiation in human mouse rat
              Allergy & Asthma in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RORC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RORC gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rorc1 , 5 RAR-related orphan receptor gamma1, 5 87.4(n)1
    89.34(a)1
      3 (40.56 cM)5
    198851  NM_011281.21  NP_035411.21 
     943727945 
    chicken
    (Gallus gallus)
    Aves LOC7773551 nuclear receptor ROR-gamma-like 68.47(n)
    65.96(a)
      777355  XM_003642708.1  XP_003642756.1 
    lizard
    (Anolis carolinensis)
    Reptilia RORC6
    Uncharacterized protein
    56(a)
    1 ↔ 1
    GL344174.1(18718-28995)
    zebrafish
    (Danio rerio)
    Actinopterygii RORC6
    RAR-related orphan receptor C
    45(a)
    1 ↔ 1
    16(19977008-20150570)
    fruit fly
    (Drosophila melanogaster)
    Insecta eg6
    Hr466
    (see all 5)
    Hormone receptor-like in 46
    (see all 5)
    20(a)
    18(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    3L(21801803-21810700)
    2R(6091617-6124853)
    worm
    (Caenorhabditis elegans)
    Secernentea nhr-236
    nhr-856
    (see all 4)
    Nuclear hormone receptor family member nhr-85
    (see all 4)
    23(a)
    20(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    I(7214745-7221348)
    I(13056091-13062122)


    ENSEMBL Gene Tree for RORC (if available)
    TreeFam Gene Tree for RORC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RORC gene
    NR1D22  PPARD2  RORA2  PPARA2  NR1D12  RORB2  PPARG2  
    18/21 SIMAP similar genes for RORC using alignment to 4 protein entries:     RORG_HUMAN (see all proteins) (see all similar genes):
    NR1F3    NR3C2    VDR    HNF4G    PPARG    HNF4alpha
    THRB    RORA    RORB    NR1F1    NR1F2    NR1I3
    NR1H3    ESR1    NR4A2    NR2C2    DKFZp779O0162    RARG

    RORC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/691 SNPs in RORC are shown (see all 691)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs356310941,2
    C--151781713(+) TAAAAA/-TACAA 2 -- int12Minor allele frequency- -:0.25NA 4
    rs1123126581,2
    C,F--151789608(+) CGCGC-/GCTTGTG 2 -- int12Minor allele frequency- GC:0.33CSA 6
    rs113672131,2
    C--151797528(+) GGCTTC/-CCTTC 2 -- int12Minor allele frequency- -:0.00NA 4
    rs105510611,2
    C--151801455(+) aaaaa-/AAAaaaaa 2 -- int1 cds11Minor allele frequency- AAA:0.00NA 2
    rs1882388061,2
    C--158281943(+) TGGAAC/TGGGGT 2 -- ut310--------
    rs412637281,2
    C--158281944(+) GGAACA/G/TGGGTC 4 -- ut310--------
    rs1817304801,2
    C--158281993(+) AGTCCC/TTCTTC 2 -- ut310--------
    rs1383082091,2
    C--158282083(+) GACCAC/TGATGG 4 M V mis11Minor allele frequency- T:0.00NA 4552
    rs2005310291,2
    C--158282154(+) TCCCCT/CTGGGT 4 /K /R mis11Minor allele frequency- C:0.00EU 1323
    rs1862905681,2
    --158282227(+) GAAGTC/TCGCTC 2 -- int10--------

    HapMap Linkage Disequilibrium report for RORC (151778547 - 151804348 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RORC:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv160848CNV Loss16902084
    nsv516369CNV Gain19592680

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602943    OMIM disorders: --

    16 diseases for RORC:    About MalaCards
    red color blindness    anus neoplasm    color blindness    lymphedema
    acne    blindness    contact dermatitis    allergic rhinitis
    rhinitis    intrahepatic cholangiocarcinoma    cholangiocarcinoma    dermatitis
    chronic obstructive pulmonary disease    gastric cancer    asthma    thyroiditis

    2 diseases from the University of Copenhagen DISEASES database for RORC:
    Red color blindness     Anus neoplasm

    RORC for disorders           About GeneDecksing

    Genetic Association Database (GAD): RORC
    Human Genome Epidemiology (HuGE) Navigator: RORC (3 documents)

    Export disorders for RORC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RORC gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with RORC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ROR gamma: the third member of ROR/RZR orphan receptor subfamily that is highly expressed in skeletal muscle. (PubMed id 7811290)1, 2, 3 Hirose T.... Jetten A.M. (1994)
    2. Structural basis for hydroxycholesterols as natural l igands of orphan nuclear receptor RORgamma. (PubMed id 20203100)1, 2 Jin L....Li Y. (2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Candidate gene analysis in primary lymphedema. (PubMed id 18564921)1, 4 Ferrell R.E....Finegold D.N. (2008)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Molecular screening and association studies of retinoid-related orphan receptor gamma (RORC): a positional and functional candidate for type 2 diabetes. (PubMed id 12855222)1, 9 Wang H....Elbein S.C. (2003)
    7. Genomic structure and chromosomal mapping of the nuclear orphan receptor ROR gamma (RORC) gene. (PubMed id 9403063)1, 9 Medvedev A....Jetten A.M. (1997)
    8. Loss of RORgt DNA binding activity inhibits IL-17 expr ession in HIV-1 infected Indian individuals. (PubMed id 23409930)1 Singh A....Chauhan N.K. (2013)
    9. Regulation of the human hydroxysteroid sulfotransferas e (SULT2A1) by RORa and RORg and its potential relevance to human liver diseases . (PubMed id 23211525)1 Ou Z....Xie W. (2013)
    10. Possible genetic predisposition to lymphedema after br east cancer. (PubMed id 22404826)1 Newman B....Hayes S.C. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6097 HGNC: 10260 AceView: RORC Ensembl:ENSG00000143365 euGenes: HUgn6097
    ECgene: RORC Kegg: 6097 H-InvDB: RORC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RORC Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RORC gene:
    Search GeneIP for patents involving RORC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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