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EIG15

Chr 9AD

RAR related orphan receptor B

Also known as: EIG15, NR1F2, ROR-BETA, RORbeta, RZR-BETA, RZRB, bA133M9.1

The encoded protein is a nuclear hormone receptor that binds DNA as a monomer or homodimer to enhance gene expression and helps regulate circadian rhythm genes. Mutations cause susceptibility to idiopathic generalized epilepsy with autosomal dominant inheritance. This form of epilepsy typically has childhood to adolescent onset and primarily affects the nervous system.

OMIMResearchSummary from RefSeq, OMIM
AD1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/EIG15?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

EIG15 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
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Key Publications
Landmark & review papers · by relevance
PubMed
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

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