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, stu... See more...

Aliases for RORC Gene

Aliases for RORC Gene

  • RAR Related Orphan Receptor C 2 3 5
  • RAR-Related Orphan Receptor C 2 3 4
  • Nuclear Receptor Subfamily 1 Group F Member 3 3 4
  • Nuclear Receptor ROR-Gamma 3 4
  • Nuclear Receptor RZR-Gamma 3 4
  • NR1F3 3 4
  • RORG 3 4
  • RZRG 3 4
  • RAR-Related Orphan Nuclear Receptor Variant 2 3
  • Retinoid-Related Orphan Receptor Gamma 3
  • Retinoid-Related Orphan Receptor-Gamma 4
  • Retinoic Acid-Binding Receptor Gamma 3
  • RZR-GAMMA 3
  • IMD42 3
  • TOR 3

External Ids for RORC Gene

Previous GeneCards Identifiers for RORC Gene

  • GC01M149620
  • GC01M147561
  • GC01M148553
  • GC01M148995
  • GC01M148997
  • GC01M148592
  • GC01M150040
  • GC01M150046
  • GC01M151778
  • GC01M123155

Summaries for RORC Gene

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 Immunodeficiency 42 and Anus Benign Neoplasm. Among its related pathways are Cytokine Signaling in Immune system and Th17 cell differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and steroid hormone receptor activity. An important paralog of this gene is RORA.

UniProtKB/Swiss-Prot Summary for RORC Gene

  • Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of cellular differentiation, immunity, peripheral circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism (PubMed:19381306, PubMed:19965867, PubMed:22789990, PubMed:26160376, PubMed:20203100). Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively (PubMed:19965867, PubMed:22789990). Recruits distinct combinations of cofactors to target gene regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates the circadian expression of clock genes such as CRY1, ARNTL/BMAL1 and NR1D1 in peripheral tissues and in a tissue-selective manner. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as ARNTL/BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORC-mediated activation of the expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Involved in the regulation of the rhythmic expression of genes involved in glucose and lipid metabolism, including PLIN2 and AVPR1A (PubMed:19965867). Negative regulator of adipocyte differentiation through the regulation of early phase genes expression, such as MMP3. Controls adipogenesis as well as adipocyte size and modulates insulin sensitivity in obesity. In liver, has specific and redundant functions with RORA as positive or negative modulator of expression of genes encoding phase I and Phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as SULT1E1. Also plays also a role in the regulation of hepatocyte glucose metabolism through the regulation of G6PC and PCK1 (PubMed:19965867). Regulates the rhythmic expression of PROX1 and promotes its nuclear localization (PubMed:19381306, PubMed:19965867, PubMed:22789990, PubMed:26160376, PubMed:20203100). Plays an indispensable role in the induction of IFN-gamma dependent anti-mycobacterial systemic immunity (PubMed:26160376).
  • Isoform 2: Essential for thymopoiesis and the development of several secondary lymphoid tissues, including lymph nodes and Peyer's patches. Required for the generation of LTi (lymphoid tissue inducer) cells. Regulates thymocyte survival through DNA-binding on ROREs of target gene promoter regions and recruitment of coactivaros via the AF-2. Also plays a key role, downstream of IL6 and TGFB and synergistically with RORA, for lineage specification of uncommitted CD4(+) T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. May also play a role in the pre-TCR activation cascade leading to the maturation of alpha/beta T-cells and may participate in the regulation of DNA accessibility in the TCR-J(alpha) locus.

Tocris Summary for RORC Gene

  • Retinoic acid-related Orphan Receptors (RORs) are a family of orphan nuclear receptors that are believed to play a role in numerous physiological processes, including circadian rhythm and bone metabolism. The endogenous ligand for these receptors is not yet known.

Gene Wiki entry for RORC Gene

Additional gene information for RORC Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RORC Gene

Genomics for RORC Gene

GeneHancer (GH) Regulatory Elements for RORC Gene

Promoters and enhancers for RORC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RORC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RORC gene promoter:
  • AP-1
  • ATF-2

Genomic Locations for RORC Gene

Genomic Locations for RORC Gene
chr1:151,806,071-151,832,238
(GRCh38/hg38)
Size:
26,168 bases
Orientation:
Minus strand
chr1:151,778,547-151,804,348
(GRCh37/hg19)
Size:
25,802 bases
Orientation:
Minus strand

Genomic View for RORC Gene

Genes around RORC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RORC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RORC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RORC Gene

Proteins for RORC Gene

  • Protein details for RORC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51449-RORG_HUMAN
    Recommended name:
    Nuclear receptor ROR-gamma
    Protein Accession:
    P51449
    Secondary Accessions:
    • Q5SZR9
    • Q8N5V7
    • Q8NCY8

    Protein attributes for RORC Gene

    Size:
    518 amino acids
    Molecular mass:
    58195 Da
    Quaternary structure:
    • Interacts (via AF-2 motif) with the coactivator NCOA2 (via LXXLL motif) (PubMed:20211758). Interacts with the corepressor NCOR1 (By similarity). Interacts with CRY1 (PubMed:22170608). Interacts (via AF-2 motif) with the coactivators NCOA1 and PPARGC1A (via LXXLL motif) (By similarity). Interacts (via AF-2 motif) with PROX1 (By similarity). Interacts with FOXP3 (PubMed:18368049). Interacts with NR0B2 (By similarity).
    SequenceCaution:
    • Sequence=AAA64751.1; Type=Frameshift; Positions=516; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RORC Gene

    Alternative splice isoforms for RORC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RORC Gene

Post-translational modifications for RORC Gene

  • Ubiquitination at Lys279
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for RORC

No data available for DME Specific Peptides for RORC Gene

Domains & Families for RORC Gene

Gene Families for RORC Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for RORC Gene

GenScript: Design optimal peptide antigens:
  • Retinoid-related orphan receptor gamma (B6ZGS6_HUMAN)
  • RAR-related orphan receptor C, isoform CRA_a (D3DV25_HUMAN)
  • RAR-related orphan nuclear receptor variant 2 (F1D8P6_HUMAN)
  • RORC protein (Q6I9R9_HUMAN)
  • Retinoid-related orphan receptor-gamma (RORG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51449

UniProtKB/Swiss-Prot:

RORG_HUMAN :
  • The AF-2 (activation function-2) motif is required for recruiting coregulators containing LXXLL motifs such as NCOA1 and NCOA2.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • The AF-2 (activation function-2) motif is required for recruiting coregulators containing LXXLL motifs such as NCOA1 and NCOA2.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with RORC: view

Function for RORC Gene

Molecular function for RORC Gene

UniProtKB/Swiss-Prot Function:
Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of cellular differentiation, immunity, peripheral circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism (PubMed:19381306, PubMed:19965867, PubMed:22789990, PubMed:26160376, PubMed:20203100). Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively (PubMed:19965867, PubMed:22789990). Recruits distinct combinations of cofactors to target gene regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates the circadian expression of clock genes such as CRY1, ARNTL/BMAL1 and NR1D1 in peripheral tissues and in a tissue-selective manner. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as ARNTL/BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORC-mediated activation of the expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Involved in the regulation of the rhythmic expression of genes involved in glucose and lipid metabolism, including PLIN2 and AVPR1A (PubMed:19965867). Negative regulator of adipocyte differentiation through the regulation of early phase genes expression, such as MMP3. Controls adipogenesis as well as adipocyte size and modulates insulin sensitivity in obesity. In liver, has specific and redundant functions with RORA as positive or negative modulator of expression of genes encoding phase I and Phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as SULT1E1. Also plays also a role in the regulation of hepatocyte glucose metabolism through the regulation of G6PC and PCK1 (PubMed:19965867). Regulates the rhythmic expression of PROX1 and promotes its nuclear localization (PubMed:19381306, PubMed:19965867, PubMed:22789990, PubMed:26160376, PubMed:20203100). Plays an indispensable role in the induction of IFN-gamma dependent anti-mycobacterial systemic immunity (PubMed:26160376).
UniProtKB/Swiss-Prot Function:
Isoform 2: Essential for thymopoiesis and the development of several secondary lymphoid tissues, including lymph nodes and Peyer's patches. Required for the generation of LTi (lymphoid tissue inducer) cells. Regulates thymocyte survival through DNA-binding on ROREs of target gene promoter regions and recruitment of coactivaros via the AF-2. Also plays a key role, downstream of IL6 and TGFB and synergistically with RORA, for lineage specification of uncommitted CD4(+) T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. May also play a role in the pre-TCR activation cascade leading to the maturation of alpha/beta T-cells and may participate in the regulation of DNA accessibility in the TCR-J(alpha) locus.
UniProtKB/Swiss-Prot Induction:
Up-regulated in the state of obesity.
GENATLAS Biochemistry:
RAR related orphan receptor,ligand activated transcription factor,highly expressed in skeletal muscle,steroid/thyroid retinoic receptor superfamily

Phenotypes From GWAS Catalog for RORC Gene

Gene Ontology (GO) - Molecular Function for RORC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 20427770
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001223 transcription coactivator binding IBA 21873635
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 20427770
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with RORC: view
genes like me logo Genes that share phenotypes with RORC: view

Human Phenotype Ontology for RORC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RORC Gene

MGI Knock Outs for RORC:

Animal Model Products

CRISPR Products

Targeted motifs for RORC Gene
HOMER Transcription Factor Regulatory Elements motif RORC
  • Consensus sequence: AAYTAGGTCA Submotif: canonical Cell Type: EL4 GEO ID: GSE56019

Clone Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for RORC Gene

Localization for RORC Gene

Subcellular locations from UniProtKB/Swiss-Prot for RORC Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RORC gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RORC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with RORC: view

Pathways & Interactions for RORC Gene

genes like me logo Genes that share pathways with RORC: view

SIGNOR curated interactions for RORC Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RORC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 20427770
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006805 xenobiotic metabolic process ISS --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with RORC: view

Drugs & Compounds for RORC Gene

(6) Drugs for RORC Gene - From: ApexBio, DGIdb, IUPHAR, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tretinoin Approved, Investigational Nutra Full agonist, Agonist, Antagonist, binder 254
SR 1001 Pharma RORalpha/gamma inverse agonist 0
SR 2211 Pharma inverse agonist of RORγ, potent and selective, Selective RORgamma inverse agonist 0
25-Hydroxycholesterol Pharma Agonist 0
ALRT 1550 Pharma Antagonist 0

(1) Additional Compounds for RORC Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SR 0987
303126-97-8

(4) Tocris Compounds for RORC Gene

Compound Action Cas Number
SR 0987 T cell-specific RORgamma (RORgammat) agonist 303126-97-8
SR 1001 RORalpha/gamma inverse agonist 1335106-03-0
SR 1078 RORalpha/gamma agonist 1246525-60-9
SR 2211 Selective RORgamma inverse agonist 1359164-11-6

(2) ApexBio Compounds for RORC Gene

Compound Action Cas Number
SR 1001 1335106-03-0
SR 2211 inverse agonist of RORγ, potent and selective 1359164-11-6
genes like me logo Genes that share compounds with RORC: view

Transcripts for RORC Gene

mRNA/cDNA for RORC Gene

(2) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RORC Gene

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: -
SP6:

Relevant External Links for RORC Gene

GeneLoc Exon Structure for
RORC
ECgene alternative splicing isoforms for
RORC

Expression for RORC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RORC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RORC Gene

This gene is overexpressed in Muscle - Skeletal (x12.1), Liver (x6.7), and Pancreas (x5.9).

NURSA nuclear receptor signaling pathways regulating expression of RORC Gene:

RORC

SOURCE GeneReport for Unigene cluster for RORC Gene:

Hs.256022

mRNA Expression by UniProt/SwissProt for RORC Gene:

P51449-RORG_HUMAN
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.

Evidence on tissue expression from TISSUES for RORC Gene

  • Muscle(4.4)
  • Intestine(4.3)
  • Lymph node(4.3)
  • Kidney(4.2)
  • Liver(2.5)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with RORC: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RORC Gene

Orthologs for RORC Gene

This gene was present in the common ancestor of animals.

Orthologs for RORC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RORC 33 32
  • 99.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RORC 33 32
  • 90.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RORC 33 32
  • 88.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102556141 32
  • 87.52 (n)
mouse
(Mus musculus)
Mammalia Rorc 17 33 32
  • 87.21 (n)
oppossum
(Monodelphis domestica)
Mammalia RORC 33
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RORC 33
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves RORC 33
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RORC 33
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100004847 32
  • 55.65 (n)
RORC 33
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hr46 33
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhr-23 33
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 25 (a)
OneToMany
Species where no ortholog for RORC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RORC Gene

ENSEMBL:
Gene Tree for RORC (if available)
TreeFam:
Gene Tree for RORC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RORC: view image

Paralogs for RORC Gene

(21) SIMAP similar genes for RORC Gene using alignment to 4 proteins:

  • RORG_HUMAN
  • D3DV25_HUMAN
  • H7BYJ4_HUMAN
  • Q6I9R9_HUMAN
genes like me logo Genes that share paralogs with RORC: view

Variants for RORC Gene

Sequence variations from dbSNP and Humsavar for RORC Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1161656885 uncertain-significance, Immunodeficiency 42 151,815,129(-) A/G coding_sequence_variant, missense_variant
rs139551639 uncertain-significance, Immunodeficiency 42 151,813,343(-) G/A coding_sequence_variant, missense_variant
rs142141845 uncertain-significance, Immunodeficiency 42 151,816,709(-) G/A coding_sequence_variant, missense_variant
rs146520783 benign, Immunodeficiency 42 151,815,235(-) C/T coding_sequence_variant, synonymous_variant
rs151097632 benign, Immunodeficiency 42 151,831,732(-) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for RORC Gene

Variant ID Type Subtype PubMed ID
esv3578175 CNV loss 25503493
nsv1010398 CNV gain 25217958
nsv160848 CNV deletion 16902084
nsv476116 CNV novel sequence insertion 20440878
nsv516369 CNV gain 19592680

Variation tolerance for RORC Gene

Residual Variation Intolerance Score: 36.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.59; 65.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RORC Gene

Human Gene Mutation Database (HGMD)
RORC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RORC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RORC Gene

Disorders for RORC Gene

MalaCards: The human disease database

(4) MalaCards diseases for RORC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 42
  • imd42
anus benign neoplasm
  • anal neoplasm
colorblindness, partial, protan series
  • cbp
inflammatory bowel disease
  • inflammatory bowel diseases
- elite association - COSMIC cancer census association via MalaCards
Search RORC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RORG_HUMAN
  • Immunodeficiency 42 (IMD42) [MIM:616622]: An autosomal recessive primary immunodeficiency characterized by increased susceptibility to concomitant candidiasis and mycobacteriosis. Candidiasis is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida. Mycobacteriosis is characterized by infections caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. IMD42 patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections. {ECO:0000269 PubMed:26160376}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RORC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RORC: view

No data available for Genatlas for RORC Gene

Publications for RORC Gene

  1. ROR gamma: the third member of ROR/RZR orphan receptor subfamily that is highly expressed in skeletal muscle. (PMID: 7811290) Hirose T … Jetten AM (Biochemical and biophysical research communications 1994) 2 3 4 56
  2. IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. (PMID: 26160376) Okada S … Casanova JL (Science (New York, N.Y.) 2015) 3 4 56
  3. Cryptochromes mediate rhythmic repression of the glucocorticoid receptor. (PMID: 22170608) Lamia KA … Evans RM (Nature 2011) 3 4 56
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  5. Modulation of retinoic acid receptor-related orphan receptor alpha and gamma activity by 7-oxygenated sterol ligands. (PMID: 19965867) Wang Y … Burris TP (The Journal of biological chemistry 2010) 3 4 56

Products for RORC Gene

Sources for RORC Gene