Basic gene Info. | Gene symbol | ESRRB |
Gene name | estrogen-related receptor beta |
Synonyms | DFNB35|ERR2|ERRb|ESRL2|NR3B2 |
Cytomap | UCSC genome browser: 14q24.3 |
Type of gene | protein-coding |
RefGenes | NM_004452.3,
|
Description | ERR beta-2ERR-betaERRbeta-2estrogen receptor-like 2estrogen-related nuclear receptor betanuclear receptor ERRB2nuclear receptor subfamily 3 group B member 2orphan nuclear receptorsteroid hormone receptor ERR2 |
Modification date | 20141207 |
dbXrefs | MIM : 602167 |
HGNC : HGNC |
Ensembl : ENSG00000119715 |
HPRD : 03700 |
Vega : OTTHUMG00000160457 |
Protein | UniProt: O95718 go to UniProt's Cross Reference DB Table |
Expression | CleanEX: HS_ESRRB |
BioGPS: 2103 |
Pathway | NCI Pathway Interaction Database: ESRRB |
KEGG: ESRRB |
REACTOME: ESRRB |
Pathway Commons: ESRRB |
Context | iHOP: ESRRB |
ligand binding site mutation search in PubMed: ESRRB |
UCL Cancer Institute: ESRRB |
Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. |
References showing study about ligand binding site mutation for ESRRB. | 1. "Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet. 2008 Jan;82(1):125-38. doi: 10.1016/j.ajhg.2007.09.008. PubMed PMID: 18179891; PubMed Central PMCID: PMC2253958. " 18179891 2. "Ben Saïd M, Ayedi L, Mnejja M, Hakim B, Khalfallah A, Charfeddine I, Khifagi C, Turki K, Ayadi H, Benzina Z, Ghorbel A, Castillo ID, Masmoudi S, Aifa MH. A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family. Eur J Med Genet. 2011 Nov-Dec;54(6):e535-41. doi: 10.1016/j.ejmg.2011.06.008. Epub 2011 Jul 13. PubMed PMID: 21802533. " 21802533
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LBS | AA sequence | # species | Species |
A122 | VASCEACKAFF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C103 | IPKRLCLVCGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C106 | RLCLVCGDIAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C120 | YGVASCEACKA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C123 | ASCEACKAFFK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E121 | GVASCEACKAF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G116 | SGYHYGVASCE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G180 | LDRVRGGRQKY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G181 | DRVRGGRQKYK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H114 | IASGYHYGVAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K124 | SCEACKAFFKR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K128 | CKAFFKRTIQG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K153 | TKRRRKSCQAC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K184 | RGGRQKYKRRL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q132 | FKRTIQGNIEY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q156 | RRKSCQACRFM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q183 | VRGGRQKYKRR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R101 | NAIPKRLCLVC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R129 | KAFFKRTIQGN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R152 | ITKRRRKSCQA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R174 | LKEGVRLDRVR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R177 | GVRLDRVRGGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R179 | RLDRVRGGRQK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R182 | RVRGGRQKYKR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V178 | VRLDRVRGGRQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y113 | DIASGYHYGVA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y115 | ASGYHYGVASC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |