RORA RAR related orphan receptor A [Homo sapiens (human)] - Gene

Summary

Official Symbol: RORAprovided by HGNC
Official Full Name: RAR related orphan receptor Aprovided by HGNC
Primary source: HGNC:HGNC:10258
See related: Ensembl:ENSG00000069667 MIM:600825; AllianceGenome:HGNC:10258
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: ROR1; ROR2; ROR3; RZRA; NR1F1; RORa1; IDDECA; RORalpha; RZR-ALPHA
Summary: The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]
Expression: Broad expression in skin (RPKM 15.9), adrenal (RPKM 10.1) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q22.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (60488284..61229302, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (58291519..59032551, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (60780483..61521501, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Retinoic acid receptor-related orphan receptor alpha and synthetic RORalpha agonist against invasion and metastasis in tongue squamous cell carcinoma.
Title: Retinoic acid receptor-related orphan receptor alpha and synthetic RORα agonist against invasion and metastasis in tongue squamous cell carcinoma.
Tumoral periprostatic adipose tissue exovesicles-derived miR-20a-5p regulates prostate cancer cell proliferation and inflammation through the RORA gene.
Title: Tumoral periprostatic adipose tissue exovesicles-derived miR-20a-5p regulates prostate cancer cell proliferation and inflammation through the RORA gene.
Retinoic acid related orphan receptor alpha is a genetic modifier that rescues retinal degeneration in a mouse model of Stargardt disease and Dry AMD.
Title: Retinoic acid related orphan receptor α is a genetic modifier that rescues retinal degeneration in a mouse model of Stargardt disease and Dry AMD.
The single-cell transcriptomic atlas and RORA-mediated 3D epigenomic remodeling in driving corneal epithelial differentiation.
Title: The single-cell transcriptomic atlas and RORA-mediated 3D epigenomic remodeling in driving corneal epithelial differentiation.
Novel Therapeutic Potential of Retinoid-Related Orphan Receptor alpha in Cardiovascular Diseases.
Title: Novel Therapeutic Potential of Retinoid-Related Orphan Receptor α in Cardiovascular Diseases.
ERCC5, HES6 and RORA are potential diagnostic markers of coronary artery disease.
Title: ERCC5, HES6 and RORA are potential diagnostic markers of coronary artery disease.
RORA rs8042149 polymorphism moderates the association between PTSD symptom severity and transverse temporal gyrus thickness in Han Chinese adults who lost their only child.
Title: RORA rs8042149 polymorphism moderates the association between PTSD symptom severity and transverse temporal gyrus thickness in Han Chinese adults who lost their only child.
Retinoid orphan nuclear receptor alpha (RORalpha) suppresses the epithelial-mesenchymal transition (EMT) by directly repressing Snail transcription.
Title: Retinoid orphan nuclear receptor alpha (RORα) suppresses the epithelial-mesenchymal transition (EMT) by directly repressing Snail transcription.
RORA polymorphisms are risk factors for allergic rhinitis susceptibility in the Shaanxi Han population.
Title: RORA polymorphisms are risk factors for allergic rhinitis susceptibility in the Shaanxi Han population.
Disturbed expression of vitamin D and retinoic acid-related orphan receptors alpha and gamma and of megalin in inflammatory skin diseases.
Title: Disturbed expression of vitamin D and retinoic acid-related orphan receptors α and γ and of megalin in inflammatory skin diseases.

Submit: New GeneRIF Correction See all GeneRIFs (141)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia MedGen: C4748041 OMIM: 618060 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genomewide association study of citalopram response in major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
A large-scale, consortium-based genomewide association study of asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan of trait depression. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of age at menarche in African-American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of lung function decline in adults with and without asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci affecting gamma-glutamyl transferase in adults and adolescents show age &#x000d7; SNP interaction and cardiometabolic disease associations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 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

D15S1239 (e-PCR)
- UniSTS:49920

SHGC-58073 (e-PCR)
- UniSTS:44804

STS-N54497 (e-PCR)
- UniSTS:76038

NoName (e-PCR)
- UniSTS:484102

RH103476 (e-PCR)
- UniSTS:97801

A010A16 (e-PCR)
- UniSTS:28432

RH123241 (e-PCR)
- UniSTS:138004

SHGC-34807 (e-PCR)
- UniSTS:26388

G60394 (e-PCR)
- UniSTS:137500

D15S548 (e-PCR)
- UniSTS:55849

WI-13367 (e-PCR)
- UniSTS:57389

WI-16983 (e-PCR)
- UniSTS:69939

SHGC-145563 (e-PCR)
- UniSTS:174650

RH48082 (e-PCR)
- UniSTS:67644

RH15626 (e-PCR)
- UniSTS:81980

SHGC-145118 (e-PCR)
- UniSTS:174402

SHGC-107773 (e-PCR)
- UniSTS:182855

AFMa244wc9 (e-PCR)
- UniSTS:35152

SHGC-142223 (e-PCR)
- UniSTS:182868

SHGC-81480 (e-PCR)
- UniSTS:103510

RH79719 (e-PCR)
- UniSTS:86872

RH92287 (e-PCR)
- UniSTS:87896

STS-AA034058 (e-PCR)
- UniSTS:14943

G48231 (e-PCR)
- UniSTS:95328

RH68707 (e-PCR)
- UniSTS:56679

WI-22150 (e-PCR)
- UniSTS:80232

1636 (e-PCR)
- UniSTS:1643

A007F12 (e-PCR)
- UniSTS:62831

G33045 (e-PCR)
- UniSTS:117622

RH68816 (e-PCR)
- UniSTS:68985

D15S1286 (e-PCR)
- UniSTS:78202

RH99264 (e-PCR)
- UniSTS:84859

RH44599 (e-PCR)
- UniSTS:12933

RH46333 (e-PCR)
- UniSTS:2952

D15S1343 (e-PCR)
- UniSTS:43916

D0S9037 (e-PCR)
- UniSTS:1424

RH44924 (e-PCR)
- UniSTS:74899

D15S1285 (e-PCR)
- UniSTS:68759

SHGC-34398 (e-PCR)
- UniSTS:41630

RH44557 (e-PCR)
- UniSTS:41631

SHGC-85843 (e-PCR)
- UniSTS:103842

SHGC-112188 (e-PCR)
- UniSTS:168867

RH93932 (e-PCR)
- UniSTS:92582

SHGC-56795 (e-PCR)
- UniSTS:32173

D15S970 (e-PCR), detects polymorphism
- UniSTS:28595

STS-AA020923 (e-PCR)
- UniSTS:2228

STS-H87475 (e-PCR)
- UniSTS:70580

RH66701 (e-PCR)
- UniSTS:16825

SGC33753 (e-PCR)
- UniSTS:74171

STS-T90468 (e-PCR)
- UniSTS:67523

RH44576 (e-PCR)
- UniSTS:1989

G49584 (e-PCR)
- UniSTS:109253

IB1184 (e-PCR)
- UniSTS:54480

RH46100 (e-PCR)
- UniSTS:14811

RH119896 (e-PCR)
- UniSTS:133097

D15S1288 (e-PCR)
- UniSTS:63468

D15S916 (e-PCR)
- UniSTS:3309

PMC16845P1 (e-PCR)
- UniSTS:271603

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
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 RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-catenin binding	IEA Inferred from Electronic Annotation more info
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 DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in T-helper 17 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cGMP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to interleukin-1	IEA Inferred from Electronic Annotation more info
involved_in cellular response to sterol	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to sterol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in cerebellar Purkinje cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cerebellar granule cell precursor proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nitric oxide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of circadian rhythm	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vascular endothelial growth factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of glucose metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of macrophage activation	IEA Inferred from Electronic Annotation more info
involved_in regulation of smoothened signaling pathway	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 triglyceride homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
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 nucleolus	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

General protein information

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Preferred Names: nuclear receptor ROR-alpha

Names: RAR-related orphan nuclear receptor alpha; ROR-alpha; nuclear receptor RZR-alpha; nuclear receptor subfamily 1 group F member 1; retinoic acid receptor-related orphan receptor alpha; retinoid-related orphan receptor alpha; transcription factor RZR-alpha

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_029246.2 RefSeqGene

Range

5000..746018

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002943.4 → NP_002934.1 nuclear receptor ROR-alpha isoform c

See identical proteins and their annotated locations for NP_002934.1

Status: REVIEWED

Description

Transcript Variant: This variant (3), also called RORalpha3, contains a different 5' sequence as compared to variant 1. As a result, variant 3 encodes isoform c, whose 91 N-terminal aa differ from the 66 N-terminal aa of isoform a encoded by variant 1.

Source sequence(s)

AC009560, AC087385, KC877553

Consensus CDS

CCDS10178.1

UniProtKB/TrEMBL

A0A0C4DFP5, B6ZGS4

Related

ENSP00000309753.3, ENST00000309157.8

Conserved Domains (2) summary

cd06939
Location:297 → 536

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

cd06968
Location:91 → 185

NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
NM_134260.3 → NP_599022.1 nuclear receptor ROR-alpha isoform b

See identical proteins and their annotated locations for NP_599022.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also called RORalpha2, contains a different 5' sequence as compared to variant 1. As a result, variant 2 encodes isoform b, whose 99 N-terminal aa differ from the 66 N-terminal aa of isoform a encoded by variant 1.

Source sequence(s)

AC009560, AC087385, AC107241, KC877553, KC877565

Consensus CDS

CCDS10179.1

UniProtKB/TrEMBL

B6ZGS4

Related

ENSP00000261523.5, ENST00000261523.9

Conserved Domains (2) summary

cd06939
Location:305 → 544

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

cd06968
Location:99 → 193

NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
NM_134261.3 → NP_599023.1 nuclear receptor ROR-alpha isoform a

See identical proteins and their annotated locations for NP_599023.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), also called RORalpha1, utilizes a different 5' exon than the other variants and encodes isoform a.

Source sequence(s)

AC009560, AC087385, AC107905, KC877553

Consensus CDS

CCDS10177.1

UniProtKB/Swiss-Prot

P35397, P35398, P35399, P45445, Q495X4, Q96H83

UniProtKB/TrEMBL

B6ZGS4

Related

ENSP00000335087.6, ENST00000335670.11

Conserved Domains (2) summary

cd06939
Location:272 → 511

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

cd06968
Location:66 → 160

NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
NM_134262.3 → NP_599024.1 nuclear receptor ROR-alpha isoform d

See identical proteins and their annotated locations for NP_599024.1

Status: REVIEWED

Description

Transcript Variant: This variant (4), also called RZR-alpha, contains a different 5' sequence as compared to variant 1. As a result, variant 4 encodes isoform d, whose 11 N-terminal aa differ from the 66 N-terminal aa of isoform a encoded by variant 1.

Source sequence(s)

AC087385, AC107241, KC877553

Consensus CDS

CCDS45271.1

UniProtKB/TrEMBL

A0A0C4DG53, B6ZGS4

Related

ENSP00000402971.2, ENST00000449337.6

Conserved Domains (2) summary

cd06939
Location:217 → 456

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

cd06968
Location:11 → 105

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_000015.10 Reference GRCh38.p14 Primary Assembly

Range

60488284..61229302 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432928.1 → XP_047288884.1 nuclear receptor ROR-alpha isoform X4
XM_011521875.3 → XP_011520177.1 nuclear receptor ROR-alpha isoform X2

UniProtKB/TrEMBL

B6ZGS4

Conserved Domains (2) summary

cd06939
Location:253 → 492

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

cd06968
Location:47 → 141

NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
XM_011521877.4 → XP_011520179.1 nuclear receptor ROR-alpha isoform X3

UniProtKB/TrEMBL

B6ZGS4

Conserved Domains (2) summary

cd06939
Location:216 → 455

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

cd06968
Location:10 → 104

NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
XM_011521874.2 → XP_011520176.1 nuclear receptor ROR-alpha isoform X1

UniProtKB/TrEMBL

B6ZGS4

Conserved Domains (2) summary

cd06939
Location:274 → 513

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

cd06968
Location:68 → 162

NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers
XM_047432930.1 → XP_047288886.1 nuclear receptor ROR-alpha isoform X4
XM_047432929.1 → XP_047288885.1 nuclear receptor ROR-alpha isoform X4
XM_011521879.4 → XP_011520181.1 nuclear receptor ROR-alpha isoform X5

Conserved Domains (1) summary

cd06939
Location:125 → 364

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