RORC
Nuclear receptor ROR-gamma
Also known as: NR1F3, RORG, RORG_HUMAN, RZRG, TOR
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51449
- Gene
- RORC
- Ensembl
- ENSG00000143365
- Chromosome
- 1
- Canonical length
- 518 aa
- Protein class
- Disease related genes, Human disease related genes, Nuclear receptors, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nuclear bodies
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
518 residues, UniProt reviewed canonical sequence.
>P51449|RORC
1 MDRAPQRQHR ASRELLAAKK THTSQIEVIP CKICGDKSSG IHYGVITCEG CKGFFRRSQR
61 CNAAYSCTRQ QNCPIDRTSR NRCQHCRLQK CLALGMSRDA VKFGRMSKKQ RDSLHAEVQK
121 QLQQRQQQQQ EPVVKTPPAG AQGADTLTYT LGLPDGQLPL GSSPDLPEAS ACPPGLLKAS
181 GSGPSYSNNL AKAGLNGASC HLEYSPERGK AEGRESFYST GSQLTPDRCG LRFEEHRHPG
241 LGELGQGPDS YGSPSFRSTP EAPYASLTEI EHLVQSVCKS YRETCQLRLE DLLRQRSNIF
301 SREEVTGYQR KSMWEMWERC AHHLTEAIQY VVEFAKRLSG FMELCQNDQI VLLKAGAMEV
361 VLVRMCRAYN ADNRTVFFEG KYGGMELFRA LGCSELISSI FDFSHSLSAL HFSEDEIALY
421 TALVLINAHR PGLQEKRKVE QLQYNLELAF HHHLCKTHRQ SILAKLPPKG KLRSLCSQHV
481 ERLQIFQHLH PIVVQAAFPP LYKELFSTET ESPVGLSKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RORC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 100 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 100 nTPM
- liver: 63 nTPM
- tongue: 52 nTPM
- pancreas: 51 nTPM
- thymus: 47 nTPM
- salivary gland: 38 nTPM
Single-cell type
- breast lactating cells: 111 nCPM
- myonuclei: 76 nCPM
- hepatocytes: 66 nCPM
- tuft cells: 58 nCPM
- innate lymphoid cells: 53 nCPM
- enterocytes: 45 nCPM
Immune cell
- MAIT T-cell: 50 nTPM
- memory CD4 T-cell: 7.9 nTPM
- memory CD8 T-cell: 7.2 nTPM
- T-reg: 5.8 nTPM
- gdT-cell: 3.4 nTPM
- total PBMC: 1.2 nTPM
Brain region
- choroid plexus: 8.4 nTPM
- cerebellum: 4.3 nTPM
- midbrain: 2.5 nTPM
- spinal cord: 1.2 nTPM
- medulla oblongata: 1 nTPM
- pons: 0.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RORC.
Disease | AllUniProt
Conditions RORC is implicated in, by any mechanism.
- Immunodeficiency 42 (IMD42) MIM:616622
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 361 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.16
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.29
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adipose tissue development
- cellular response to sterol
- circadian regulation of gene expression
- lymph node development
- negative regulation of thymocyte apoptotic process
- negative regulation of transcription by RNA polymerase II
- Peyer's patch development
- positive regulation of circadian rhythm
- positive regulation of DNA-templated transcription
- regulation of fat cell differentiation
- regulation of glucose metabolic process
- regulation of steroid metabolic process
- regulation of transcription by RNA polymerase II
- regulatory T cell differentiation
- T-helper 17 cell differentiation
- T-helper cell differentiation
- tolerance induction in gut-associated lymphoid tissue
- xenobiotic metabolic process
Molecular functions
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- ligand-modulated transcription factor activity
- nuclear receptor activity
- oxysterol binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Nuclear hormone receptor, ligand-binding domain
- Zinc finger, nuclear hormone receptor-type
- Nuclear hormone receptor
- Nuclear receptor ROR
- Zinc finger, NHR/GATA-type
- Nuclear hormone receptor-like domain superfamily
- Retinoid-related orphan receptors, DNA-binding domain
- Ligand-binding domain of nuclear hormone receptor
- Double treble clef zinc finger, C4 type
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RORC in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RORC as an antibody target. Whether an autoantibody or antibody against RORC could matter depends on whether native RORC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RORC is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RORC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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