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

Summary

Official Symbol: RORCprovided by HGNC
Official Full Name: RAR related orphan receptor Cprovided by HGNC
Primary source: HGNC:HGNC:10260
See related: Ensembl:ENSG00000143365 MIM:602943; AllianceGenome:HGNC:10260
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]
Expression: Broad expression in liver (RPKM 16.0), thyroid (RPKM 15.9) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (151806071..151831802, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (150929559..150955307, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (151778547..151804278, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of Mirlet7 miRNA family promotes Tc17 differentiation and emphysema via de-repression of RORgammat.
Title: Downregulation of Mirlet7 miRNA family promotes Tc17 differentiation and emphysema via de-repression of RORγt.
Th17 cell master transcription factor RORC2 regulates HIV-1 gene expression and viral outgrowth.
Title: Th17 cell master transcription factor RORC2 regulates HIV-1 gene expression and viral outgrowth.
Conformational Changes of RORgamma During Response Element Recognition and Coregulator Engagement.
Title: Conformational Changes of RORγ During Response Element Recognition and Coregulator Engagement.
Transcriptomic effects of rs4845604, an IBD and allergy-associated RORC variant, in stimulated ex vivo CD4+ T cells.
Title: Transcriptomic effects of rs4845604, an IBD and allergy-associated RORC variant, in stimulated ex vivo CD4+ T cells.
RORC gene polymorphism is associated with acute kidney injury following cardiac surgery.
Title: RORC gene polymorphism is associated with acute kidney injury following cardiac surgery.
RORC overexpression as a sign of Th17 lymphocytes accumulation in multiple myeloma bone marrow.
Title: RORC overexpression as a sign of Th17 lymphocytes accumulation in multiple myeloma bone marrow.
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
Title: Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
Associations of TNFA, IL17A, and RORC mRNA expression levels in peripheral blood leukocytes with obesity-related asthma in adolescents.
Title: Associations of TNFA, IL17A, and RORC mRNA expression levels in peripheral blood leukocytes with obesity-related asthma in adolescents.
Possible Role of the RORC Gene in Primary and Secondary Lymphedema: Review of the Literature and Genetic Study of Two Rare Causative Variants.
Title: Possible Role of the RORC Gene in Primary and Secondary Lymphedema: Review of the Literature and Genetic Study of Two Rare Causative Variants.
Orphan nuclear receptor RORgamma confers doxorubicin resistance in prostate cancer.
Title: Orphan nuclear receptor RORγ confers doxorubicin resistance in prostate cancer.

Submit: New GeneRIF Correction See all GeneRIFs (125)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency MedGen: C5567647 OMIM: 616622 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH122679 (e-PCR)
- UniSTS:133957

SHGC-34816 (e-PCR)
- UniSTS:59573

RH16275 (e-PCR)
- UniSTS:22998

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables ligand-activated transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables nuclear receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxysterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxysterol binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Peyer's patch development	ISS Inferred from Sequence or Structural Similarity more info
involved_in T-helper 17 cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in T-helper cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in adipose tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to sterol	IDA Inferred from Direct Assay more info	PubMed
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in lymph node development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of thymocyte apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of circadian rhythm	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of glucose metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of steroid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: nuclear receptor ROR-gamma

Names: nuclear receptor RZR-gamma; nuclear receptor subfamily 1 group F member 3; retinoic acid-binding receptor gamma; retinoid-related orphan receptor gamma

NCBI Reference Sequences (RefSeq)

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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

NG_029118.1 RefSeqGene

Range

5071..30802

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1322

mRNA and Protein(s)

NM_001001523.2 → NP_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, DB148892

Consensus CDS

CCDS30856.1

UniProtKB/TrEMBL

B3KUU9, F1D8P6

Related

ENSP00000349164.6, ENST00000356728.11

Conserved Domains (2) summary

cd06939
Location:247 → 485

NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily

cd06968
Location:4 → 97

NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
NM_005060.4 → NP_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, BC031554, CB161467, U16997

Consensus CDS

CCDS1004.1

UniProtKB/Swiss-Prot

P51449, Q5SZR9, Q8N5V7, Q8NCY8

UniProtKB/TrEMBL

B2RDT1, Q53FZ4, Q6I9R9

Related

ENSP00000327025.6, ENST00000318247.7

Conserved Domains (2) summary

cd06939
Location:268 → 506

NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily

cd06968
Location:24 → 118

NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

151806071..151831802 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006711484.5 → XP_006711547.3 nuclear receptor ROR-gamma isoform X2
XM_047427201.1 → XP_047283157.1 nuclear receptor ROR-gamma isoform X1

Related

ENSP00000498691.1, ENST00000651814.1

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

150929559..150955307 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338087.1 → XP_054194062.1 nuclear receptor ROR-gamma isoform X2

UniProtKB/TrEMBL

B4DPR1
XM_054338086.1 → XP_054194061.1 nuclear receptor ROR-gamma isoform X1