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Protein

Steroid hormone receptor ERR2

Gene

ESRRB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Nuclear receptor, may regulate ESR1 transcriptional activity. Induces the expression of PERM1 in the skeletal muscle.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei185Important for stabilizing DNA-binding1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi100 – 186Nuclear receptorPROSITE-ProRule annotationAdd BLAST87
Zinc fingeri103 – 123NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri139 – 163NR C4-typePROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000119715-MONOMER.
ReactomeiR-HSA-383280. Nuclear Receptor transcription pathway.
SignaLinkiO95718.
SIGNORiO95718.

Names & Taxonomyi

Protein namesi
Recommended name:
Steroid hormone receptor ERR2
Alternative name(s):
ERR beta-2
Estrogen receptor-like 2
Estrogen-related receptor beta
Short name:
ERR-beta
Nuclear receptor subfamily 3 group B member 2
Gene namesi
Name:ESRRB
Synonyms:ERRB2, ESRL2, NR3B2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:3473. ESRRB.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 35 (DFNB35)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by non-progressive, prelingual hearing loss.
See also OMIM:608565
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043503110A → V in DFNB35. 1 PublicationCorresponds to variant rs121909110dbSNPEnsembl.1
Natural variantiVAR_043504320L → P in DFNB35. 1 Publication1
Natural variantiVAR_043505342V → L in DFNB35. 1 PublicationCorresponds to variant rs121909111dbSNPEnsembl.1
Natural variantiVAR_043506347L → P in DFNB35. 1 Publication1
Natural variantiVAR_043508389T → M in DFNB35; uncertain pathological significance. 1 PublicationCorresponds to variant rs201714970dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi185Y → A: 6-fold decrease in DNA-binding affinity. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi2103.
MalaCardsiESRRB.
MIMi608565. phenotype.
OpenTargetsiENSG00000119715.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA27889.

Chemistry databases

ChEMBLiCHEMBL3751.
GuidetoPHARMACOLOGYi623.

Polymorphism and mutation databases

BioMutaiESRRB.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000536621 – 508Steroid hormone receptor ERR2Add BLAST508

Post-translational modificationi

Acetylated by PCAF/KAT2 (in vitro).1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiO95718.
PeptideAtlasiO95718.
PRIDEiO95718.

PTM databases

iPTMnetiO95718.
PhosphoSitePlusiO95718.

Expressioni

Gene expression databases

BgeeiENSG00000119715.
CleanExiHS_ESRRB.
ExpressionAtlasiO95718. baseline and differential.
GenevisibleiO95718. HS.

Interactioni

Subunit structurei

Binds DNA as a monomer.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108406. 92 interactors.
STRINGi9606.ENSP00000370270.

Chemistry databases

BindingDBiO95718.

Structurei

Secondary structure

1508
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni104 – 107Combined sources4
Beta strandi111 – 119Combined sources9
Helixi121 – 132Combined sources12
Helixi149 – 154Combined sources6
Helixi156 – 166Combined sources11
Helixi170 – 172Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LO1NMR-A97-192[»]
ProteinModelPortaliO95718.
SMRiO95718.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO95718.

Family & Domainsi

Sequence similaritiesi

Contains 1 nuclear receptor DNA-binding domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri103 – 123NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri139 – 163NR C4-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG3575. Eukaryota.
ENOG410XRZC. LUCA.
GeneTreeiENSGT00760000118887.
HOGENOMiHOG000233467.
HOVERGENiHBG108344.
InParanoidiO95718.
KOiK08553.
OMAiQIPGFIE.
OrthoDBiEOG091G0DYP.
TreeFamiTF323751.

Family and domain databases

Gene3Di1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProiIPR000536. Nucl_hrmn_rcpt_lig-bd.
IPR001723. Nuclear_hrmn_rcpt.
IPR027289. Oest-rel_rcp.
IPR024178. Oest_rcpt/oest-rel_rcp.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PfamiPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PIRSFiPIRSF002527. ER-like_NR. 1 hit.
PIRSF500939. ERR1-2-3. 1 hit.
PRINTSiPR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTiSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMiSSF48508. SSF48508. 1 hit.
PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95718-1) [UniParc]FASTAAdd to basket
Also known as: ERRbeta2-delta10

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSSDDRHLGS SCGSFIKTEP SSPSSGIDAL SHHSPSGSSD ASGGFGLALG
60 70 80 90 100
THANGLDSPP MFAGAGLGGT PCRKSYEDCA SGIMEDSAIK CEYMLNAIPK
110 120 130 140 150
RLCLVCGDIA SGYHYGVASC EACKAFFKRT IQGNIEYSCP ATNECEITKR
160 170 180 190 200
RRKSCQACRF MKCLKVGMLK EGVRLDRVRG GRQKYKRRLD SESSPYLSLQ
210 220 230 240 250
ISPPAKKPLT KIVSYLLVAE PDKLYAMPPP GMPEGDIKAL TTLCDLADRE
260 270 280 290 300
LVVIIGWAKH IPGFSSLSLG DQMSLLQSAW MEILILGIVY RSLPYDDKLV
310 320 330 340 350
YAEDYIMDEE HSRLAGLLEL YRAILQLVRR YKKLKVEKEE FVTLKALALA
360 370 380 390 400
NSDSMYIEDL EAVQKLQDLL HEALQDYELS QRHEEPWRTG KLLLTLPLLR
410 420 430 440 450
QTAAKAVQHF YSVKLQGKVP MHKLFLEMLE AKVGQEQLRG SPKDERMSSH
460 470 480 490 500
DGKCPFQSAA FTSRDQSNSP GIPNPRPSSP TPLNERGRQI SPSTRTPGGQ

GKHLWLTM
Length:508
Mass (Da):56,208
Last modified:January 25, 2012 - v2
Checksum:i1BF4637DC1D45B13
GO
Isoform 2 (identifier: O95718-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     433-508: VGQEQLRGSP...GQGKHLWLTM → AWARADSLQE...PQRAGWPRAA

Show »
Length:500
Mass (Da):55,619
Checksum:iC219C84D914DF1C6
GO
Isoform 3 (identifier: O95718-3) [UniParc]FASTAAdd to basket
Also known as: ERRbeta-short-form

The sequence of this isoform differs from the canonical sequence as follows:
     434-508: Missing.

Show »
Length:433
Mass (Da):48,054
Checksum:iED1D3F87E2798DD1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti248D → E in BAH02305 (Ref. 3) Curated1
Sequence conflicti429L → V in AAI31518 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043503110A → V in DFNB35. 1 PublicationCorresponds to variant rs121909110dbSNPEnsembl.1
Natural variantiVAR_043504320L → P in DFNB35. 1 Publication1
Natural variantiVAR_043505342V → L in DFNB35. 1 PublicationCorresponds to variant rs121909111dbSNPEnsembl.1
Natural variantiVAR_043506347L → P in DFNB35. 1 Publication1
Natural variantiVAR_043507386P → S.1 PublicationCorresponds to variant rs61742642dbSNPEnsembl.1
Natural variantiVAR_043508389T → M in DFNB35; uncertain pathological significance. 1 PublicationCorresponds to variant rs201714970dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042211433 – 508VGQEQ…LWLTM → AWARADSLQEWRPLEQVPSP LHRATKRQHVHFLTPLPPPP SVAWVGTAQAGYHLEVFLPQ RAGWPRAA in isoform 2. 1 PublicationAdd BLAST76
Alternative sequenceiVSP_042212434 – 508Missing in isoform 3. 2 PublicationsAdd BLAST75

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF094517 mRNA. Translation: AAC99409.1.
AY451389 mRNA. Translation: AAS15571.1.
AY451390 mRNA. Translation: AAS15572.1.
AB307714 mRNA. Translation: BAH02305.1.
HQ692852 mRNA. Translation: ADZ17363.1.
AC008050 Genomic DNA. Translation: AAG17472.1.
AC016543 Genomic DNA. No translation available.
BC131517 mRNA. Translation: AAI31518.1.
CCDSiCCDS9850.2. [O95718-1]
RefSeqiNP_004443.3. NM_004452.3. [O95718-1]
XP_016876575.1. XM_017021086.1. [O95718-1]
UniGeneiHs.435845.

Genome annotation databases

EnsembliENST00000380887; ENSP00000370270; ENSG00000119715. [O95718-1]
ENST00000505752; ENSP00000423004; ENSG00000119715. [O95718-2]
ENST00000509242; ENSP00000422488; ENSG00000119715. [O95718-1]
ENST00000556177; ENSP00000451658; ENSG00000119715. [O95718-3]
GeneIDi2103.
KEGGihsa:2103.
UCSCiuc001xsq.2. human. [O95718-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF094517 mRNA. Translation: AAC99409.1.
AY451389 mRNA. Translation: AAS15571.1.
AY451390 mRNA. Translation: AAS15572.1.
AB307714 mRNA. Translation: BAH02305.1.
HQ692852 mRNA. Translation: ADZ17363.1.
AC008050 Genomic DNA. Translation: AAG17472.1.
AC016543 Genomic DNA. No translation available.
BC131517 mRNA. Translation: AAI31518.1.
CCDSiCCDS9850.2. [O95718-1]
RefSeqiNP_004443.3. NM_004452.3. [O95718-1]
XP_016876575.1. XM_017021086.1. [O95718-1]
UniGeneiHs.435845.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LO1NMR-A97-192[»]
ProteinModelPortaliO95718.
SMRiO95718.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108406. 92 interactors.
STRINGi9606.ENSP00000370270.

Chemistry databases

BindingDBiO95718.
ChEMBLiCHEMBL3751.
GuidetoPHARMACOLOGYi623.

PTM databases

iPTMnetiO95718.
PhosphoSitePlusiO95718.

Polymorphism and mutation databases

BioMutaiESRRB.

Proteomic databases

PaxDbiO95718.
PeptideAtlasiO95718.
PRIDEiO95718.

Protocols and materials databases

DNASUi2103.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380887; ENSP00000370270; ENSG00000119715. [O95718-1]
ENST00000505752; ENSP00000423004; ENSG00000119715. [O95718-2]
ENST00000509242; ENSP00000422488; ENSG00000119715. [O95718-1]
ENST00000556177; ENSP00000451658; ENSG00000119715. [O95718-3]
GeneIDi2103.
KEGGihsa:2103.
UCSCiuc001xsq.2. human. [O95718-1]

Organism-specific databases

CTDi2103.
DisGeNETi2103.
GeneCardsiESRRB.
GeneReviewsiESRRB.
HGNCiHGNC:3473. ESRRB.
MalaCardsiESRRB.
MIMi602167. gene.
608565. phenotype.
neXtProtiNX_O95718.
OpenTargetsiENSG00000119715.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA27889.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3575. Eukaryota.
ENOG410XRZC. LUCA.
GeneTreeiENSGT00760000118887.
HOGENOMiHOG000233467.
HOVERGENiHBG108344.
InParanoidiO95718.
KOiK08553.
OMAiQIPGFIE.
OrthoDBiEOG091G0DYP.
TreeFamiTF323751.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000119715-MONOMER.
ReactomeiR-HSA-383280. Nuclear Receptor transcription pathway.
SignaLinkiO95718.
SIGNORiO95718.

Miscellaneous databases

ChiTaRSiESRRB. human.
EvolutionaryTraceiO95718.
GeneWikiiEstrogen-related_receptor_beta.
GenomeRNAii2103.
PROiO95718.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119715.
CleanExiHS_ESRRB.
ExpressionAtlasiO95718. baseline and differential.
GenevisibleiO95718. HS.

Family and domain databases

Gene3Di1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProiIPR000536. Nucl_hrmn_rcpt_lig-bd.
IPR001723. Nuclear_hrmn_rcpt.
IPR027289. Oest-rel_rcp.
IPR024178. Oest_rcpt/oest-rel_rcp.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PfamiPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PIRSFiPIRSF002527. ER-like_NR. 1 hit.
PIRSF500939. ERR1-2-3. 1 hit.
PRINTSiPR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTiSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMiSSF48508. SSF48508. 1 hit.
PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiERR2_HUMAN
AccessioniPrimary (citable) accession number: O95718
Secondary accession number(s): A2VDJ2
, B6ZGU4, Q5F0P7, Q5F0P8, Q9HCB4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 25, 2012
Last modified: November 2, 2016
This is version 167 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.