ESRRB Gene (Estrogen Related Receptor Beta)
Comprehensive gene card, expression, mutations, and disease associations for ESRRB
Gene Information Card
| Symbol | ESRRB |
|---|---|
| Full Name | Estrogen Related Receptor Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 2103 ncbi.nlm.nih.gov/gene/2103 |
| Ensembl ID | ENSG00000100100 |
| UniProt ID | O95718 |
| OMIM ID | 602167 |
| HGNC ID | 3473 |
| Aliases | ERRb, ERRbeta, NR3B2, ESRL2 |
Description
ESRRB (Estrogen Related Receptor Beta) is a nuclear receptor that acts as a transcription factor. It binds to estrogen response elements (EREs) and regulates genes involved in development, metabolism, and cellular differentiation. ESRRB is essential for placental development and inner ear function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness, autosomal recessive 35 (DFNB35) | Loss-of-function mutations in ESRRB disrupt inner ear development | OMIM #609439 |
| Placental insufficiency | ESRRB knockout mice show placental defects; human data limited | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Testis | 6.1 | Low |
| Thyroid | 5.4 | Low |
| Liver | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cell line |
| K-562 | 4.5 | Leukemia cell line |
| HeLa | 3.2 | Cervical cancer cell line |
| MCF7 | 2.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.159C>A (p.Tyr53*) | Nonsense | Rare | Loss of function; associated with DFNB35 |
| c.332G>A (p.Arg111His) | Missense | Rare | Reduced DNA binding; likely pathogenic |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; reported in deafness |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or abolish DNA-binding domain function.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported; ESRRB mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nuclear receptor transcription pathway
• Estrogen signaling pathway (via ERE binding)
Protein Summary
ESRRB encodes a 433-amino acid nuclear receptor with a conserved DNA-binding domain and ligand-binding domain. It functions as a monomer or homodimer, binding to estrogen response elements to regulate target gene expression. The protein is critical for placental development and auditory function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESRRB Knockout HEK293 Cell Line | EDJ-KQ4561 | Human | 2103 | Details Get a Quote |
| ESRRB Knockout HeLa Cell Line | EDJ-KQ53176 | Human | 2103 | Details Get a Quote |
| ESRRB Knockout A-549 Cell Line | EDJ-KQ61656 | Human | 2103 | Details Get a Quote |
| ESRRB Knockout HCT 116 Cell Line | EDJ-KQ70137 | Human | 2103 | Details Get a Quote |
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