| Entrez Gene ID | 2103 |
|---|---|
| Official Gene Symbol | ESRRB (GeneCards) |
| Full name | estrogen related receptor beta |
| Location | 14q24.3 |
| Other ids | Vega : OTTHUMG00000160457 MIM : 602167 HGNC : HGNC:3473 Ensembl : ENSG00000119715 |
| Other names | ERR2, ERRb, ESRL2, NR3B2, DFNB35 |
| 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] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 18151 | 2103 | ESRRB | 14 | 77000365 | 77000365 | Asymptomatic | HiSeq X Ten |
| 18162 | 2103 | ESRRB | 14 | 77085127 | 77085127 | Asymptomatic | HiSeq X Ten |
| 18299 | 2103 | ESRRB | 14 | 77200286 | 77200286 | Asymptomatic | HiSeq X Ten |
| 18676 | 2103 | ESRRB | 14 | 77047887 | 77047887 | Xeroderma Pigmentosum | HiSeq X Ten |
| 29262 | 2103 | ESRRB | 14 | 76928944 | 76928944 | Autism Spectrum Disorders | HiSeq X Ten PASM |