Reviewed,
UniProtKB/Swiss-Prot O95718 (ERR2_HUMAN)
Last modified
June 16, 2009.
Version 87.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Steroid hormone receptor ERR2 Alternative name(s): Estrogen-related receptor, beta Short name=ERR-beta Estrogen receptor-like 2 ERR beta-2 Nuclear receptor subfamily 3 group B member 2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 500 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subunit structure | Homodimer By similarity. |
| Subcellular location | Nucleus Potential. |
| Involvement in disease | Defects in ESRRB are the cause of non-syndromic sensorineural deafness autosomal recessive type 35 (DFNB35) [MIM:608565]. DFNB35 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Ref.3 |
| Sequence similarities | Belongs to the nuclear hormone receptor family. NR3 subfamily. Contains 1 nuclear receptor DNA-binding domain. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||
Molecule processing | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 500 | 500 | Steroid hormone receptor ERR2 | PRO_0000053662 | |||||||||||||||||
Regions | |||||||||||||||||||||
| DNA binding | 100 – 175 | 76 | Nuclear receptor | ||||||||||||||||||
| Zinc finger | 103 – 123 | 21 | NR C4-type | ||||||||||||||||||
| Zinc finger | 139 – 163 | 25 | NR C4-type | ||||||||||||||||||
Natural variations | |||||||||||||||||||||
| Natural variant | 110 | 1 | A → V in DFNB35. Ref.3 | VAR_043503 | |||||||||||||||||
| Natural variant | 320 | 1 | L → P in DFNB35. Ref.3 | VAR_043504 | |||||||||||||||||
| Natural variant | 342 | 1 | V → L in DFNB35. Ref.3 | VAR_043505 | |||||||||||||||||
| Natural variant | 347 | 1 | L → P in DFNB35. Ref.3 | VAR_043506 | |||||||||||||||||
| Natural variant | 386 | 1 | P → S Ref.3 | VAR_043507 | |||||||||||||||||
| Natural variant | 389 | 1 | T → M in DFNB35; uncertain pathological significance. Ref.3 | VAR_043508 | |||||||||||||||||
Secondary structure | |||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||
| Turn | 104 – 107 | 4 | |||||||||||||||||||
| Beta strand | 111 – 119 | 9 | |||||||||||||||||||
| Helix | 121 – 132 | 12 | |||||||||||||||||||
| Helix | 149 – 154 | 6 | |||||||||||||||||||
| Helix | 156 – 166 | 11 | |||||||||||||||||||
| Helix | 170 – 172 | 3 | |||||||||||||||||||
Sequences
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References
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AF094517 mRNA. Translation: AAC99409.1. AC008050 Genomic DNA. Translation: AAG17472.1. AC016543 Genomic DNA. No translation available. | |||||||||||||
| IPI | IPI00032812. | ||||||||||||
| RefSeq | NP_004443.2. | ||||||||||||
| UniGene | Hs.435845 | ||||||||||||
3D structure databases | |||||||||||||
| |||||||||||||
| SMR | O95718. Positions 211-432. | ||||||||||||
| ModBase | Search... | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | O95718. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENSG00000119715. Homo sapiens. [Contig view] | ||||||||||||
| GeneID | 2103. | ||||||||||||
| KEGG | hsa:2103. | ||||||||||||
Organism-specific databases | |||||||||||||
| GeneCards | GC14P075907. | ||||||||||||
| HGNC | HGNC:3473. ESRRB. | ||||||||||||
| MIM | 602167. gene. 608565. phenotype. | ||||||||||||
| Orphanet | 90636. Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB. | ||||||||||||
| PharmGKB | PA27889. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOVERGEN | O95718. | ||||||||||||
| OMA | O95718. ALGAHAN. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | O95718. | ||||||||||||
| Bgee | O95718. | ||||||||||||
| CleanEx | HS_ESRRB. | ||||||||||||
| GermOnline | ENSG00000119715. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR008946. Nucl_hormone_rcpt_ligand-bd. IPR000536. Nucl_hrmn_rcpt_lig-bd_core. IPR000003. RtnoidX_rcpt. IPR001723. Str_hrmn_rcpt. IPR001628. Znf_hrmn_rcpt. IPR013088. Znf_NHR/GATA. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:1.10.565.10. Nucl_hrmn_rcpt_lig_bd. 1 hit. G3DSA:3.30.50.10. Znf_NHR/GATA. 1 hit. | ||||||||||||
| Pfam | PF00104. Hormone_recep. 1 hit. PF00105. zf-C4. 1 hit. [Graphical view] | ||||||||||||
| PRINTS | PR00545. RETINOIDXR. PR00398. STRDHORMONER. PR00047. STROIDFINGER. | ||||||||||||
| ProDom | PD000035. Znf_C4steroid. 1 hit. [Graphical view] [Entries sharing at least one domain] | ||||||||||||
| SMART | SM00430. HOLI. 1 hit. SM00399. ZnF_C4. 1 hit. [Graphical view] | ||||||||||||
| PROSITE | PS00031. NUCLEAR_REC_DBD_1. 1 hit. PS51030. NUCLEAR_REC_DBD_2. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 8507. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | ERR2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O95718 Secondary accession number(s): Q9HCB4 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 14 Human chromosome 14: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


