ESRRB estrogen related receptor beta
Gene ID: 2103, updated on 11-Apr-2024Gene type: protein coding
Also known as: ERR2; ERRb; ESRL2; NR3B2; DFNB35; ERRbeta2; ERR beta-2
- See all available tests in GTR for this gene
- Go to complete Gene record for ESRRB
- Go to Variation Viewer for ESRRB variants
Summary
This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive nonsyndromic hearing loss 35 | See labs |
| Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan. GeneReviews: Not available | |
| Genome-wide association study identifies three novel genetic markers associated with elite endurance performance. GeneReviews: Not available |
Genomic context
- Location:
- 14q24.3
- Sequence:
- Chromosome: 14; NC_000014.9 (76310777..76501837)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ESRRB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ESRRB database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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