Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2103
Gene name	Estrogen related receptor beta
Gene symbol	ESRRB
Synonyms (NCBI Gene)	DFNB35ERR beta-2ERR2ERRbERRbeta2ESRL2NR3B2
Chromosome	14
Chromosome location	14q24.3
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]

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909110	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121909111	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs188462546	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs202023138	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs375916159	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs727503041	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs727504577	CGGCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs876657643	TG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1060499794	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1555344820	->G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

Show/Hide all (55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017698	hsa-miR-335-5p	Microarray	18185580
MIRT437524	hsa-miR-19b-3p	Immunoprecipitaion	22382630
MIRT527878	hsa-miR-6768-5p	PAR-CLIP	22012620
MIRT527877	hsa-miR-552-3p	PAR-CLIP	22012620
MIRT527876	hsa-miR-4695-5p	PAR-CLIP	22012620
MIRT527875	hsa-miR-5008-5p	PAR-CLIP	22012620
MIRT527874	hsa-miR-6769a-5p	PAR-CLIP	22012620
MIRT527873	hsa-miR-6769b-5p	PAR-CLIP	22012620
MIRT527872	hsa-miR-6748-5p	PAR-CLIP	22012620
MIRT527878	hsa-miR-6768-5p	PAR-CLIP	22012620
MIRT527877	hsa-miR-552-3p	PAR-CLIP	22012620
MIRT527876	hsa-miR-4695-5p	PAR-CLIP	22012620
MIRT527875	hsa-miR-5008-5p	PAR-CLIP	22012620
MIRT527874	hsa-miR-6769a-5p	PAR-CLIP	22012620
MIRT527873	hsa-miR-6769b-5p	PAR-CLIP	22012620
MIRT527872	hsa-miR-6748-5p	PAR-CLIP	22012620
MIRT971039	hsa-miR-1910	CLIP-seq
MIRT971040	hsa-miR-224	CLIP-seq
MIRT971041	hsa-miR-2392	CLIP-seq
MIRT971042	hsa-miR-3183	CLIP-seq
MIRT971043	hsa-miR-3649	CLIP-seq
MIRT971044	hsa-miR-378	CLIP-seq
MIRT971045	hsa-miR-378b	CLIP-seq
MIRT971046	hsa-miR-378c	CLIP-seq
MIRT971047	hsa-miR-378d	CLIP-seq
MIRT971048	hsa-miR-378e	CLIP-seq
MIRT971049	hsa-miR-378f	CLIP-seq
MIRT971050	hsa-miR-378h	CLIP-seq
MIRT971051	hsa-miR-378i	CLIP-seq
MIRT971052	hsa-miR-3909	CLIP-seq
MIRT971053	hsa-miR-422a	CLIP-seq
MIRT971054	hsa-miR-4287	CLIP-seq
MIRT971055	hsa-miR-4436b-5p	CLIP-seq
MIRT971056	hsa-miR-4469	CLIP-seq
MIRT971057	hsa-miR-4522	CLIP-seq
MIRT971058	hsa-miR-455-3p	CLIP-seq
MIRT971059	hsa-miR-4638-3p	CLIP-seq
MIRT971060	hsa-miR-4685-3p	CLIP-seq
MIRT971061	hsa-miR-4723-3p	CLIP-seq
MIRT971062	hsa-miR-4802-3p	CLIP-seq
MIRT971063	hsa-miR-671-5p	CLIP-seq
MIRT971064	hsa-miR-711	CLIP-seq
MIRT1987686	hsa-miR-1290	CLIP-seq
MIRT1987687	hsa-miR-3167	CLIP-seq
MIRT971054	hsa-miR-4287	CLIP-seq
MIRT1987688	hsa-miR-4307	CLIP-seq
MIRT971060	hsa-miR-4685-3p	CLIP-seq
MIRT1987689	hsa-miR-4707-5p	CLIP-seq
MIRT1987690	hsa-miR-876-5p	CLIP-seq
MIRT2222108	hsa-miR-4271	CLIP-seq
MIRT971055	hsa-miR-4436b-5p	CLIP-seq
MIRT2222109	hsa-miR-4725-3p	CLIP-seq
MIRT971054	hsa-miR-4287	CLIP-seq
MIRT971060	hsa-miR-4685-3p	CLIP-seq
MIRT1987689	hsa-miR-4707-5p	CLIP-seq

Show/Hide all (57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000793	Component	Condensed chromosome	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	17920186
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	ISS
GO:0000993	Function	RNA polymerase II complex binding	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001892	Process	Embryonic placenta development	NAS	19196830
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003707	Function	Nuclear steroid receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	ISS
GO:0005496	Function	Steroid binding	IEA
GO:0005515	Function	Protein binding	IPI	17920186, 19755138, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	23836911
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IDA	19755138
GO:0017145	Process	Stem cell division	ISS
GO:0019827	Process	Stem cell population maintenance	IDA	25522312
GO:0030518	Process	Nuclear receptor-mediated steroid hormone signaling pathway	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0032039	Component	Integrator complex	ISS
GO:0034056	Function	Estrogen response element binding	IBA
GO:0035019	Process	Somatic stem cell population maintenance	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	12654265
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043697	Process	Cell dedifferentiation	ISS
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0140001	Process	Morula formation	ISS
GO:1902459	Process	Positive regulation of stem cell population maintenance	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000035	Process	Regulation of stem cell division	ISS
GO:2000737	Process	Negative regulation of stem cell differentiation	ISS

MIM	HGNC	e!Ensembl
602167	3473	ENSG00000119715

O95718

Protein name

Steroid hormone receptor ERR2 (ERR beta-2) (Estrogen receptor-like 2) (Estrogen-related receptor beta) (ERR-beta) (Nuclear receptor subfamily 3 group B member 2)

Protein function

[Isoform 3]: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity (PubMed:17920186, PubMed:19

PDB

1LO1 , 6LIT , 6LN4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	101 → 170	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	236 → 416	Ligand-binding domain of nuclear hormone receptor	Domain

Sequence

MSSDDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPP
MFAGAGLGGTPCRKSYEDCASGIMEDSAIKCEYMLNAIPKRLCLVCGDIASGYHYGVASC
EACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRG
GRQKYKRRLDSESSPYLSLQISPPAKKPLTKIVSYLLVAEPDKLYAMPPPGMPEGDIKAL
TTLCDLADRELVVIIGWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLV
YAEDYIMDEEHSRLAGLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDL
EAVQKLQDLLHEALQDYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVP
MHKLFLEMLEAKV

Sequence length

433

Interactions

View interactions

	KEGG		Reactome
	Signaling pathways regulating pluripotency of stem cells		Nuclear Receptor transcription pathway

103

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 35	Likely pathogenic; Pathogenic	rs1485778712, rs1555342141, rs1229308767, rs121909110, rs121909111, rs1060499794, rs375916159	RCV001329257 RCV001528172 RCV000007927 RCV000007928 RCV000007929 RCV000454320 RCV000454210
ESRRB-related disorder	Likely pathogenic	rs1261105707	RCV003942226
Rare genetic deafness	Likely pathogenic	rs727504577, rs727503041, rs876657643, rs1555344820, rs202023138	RCV000155747 RCV000150664 RCV000218592 RCV000608436 RCV000616856

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs58807616	RCV005918124
Gastric cancer	Benign	rs58807616	RCV005918123
Hearing impairment	Uncertain significance	rs143118664, rs752185665	RCV001375464 RCV001849479
Hearing loss, autosomal recessive	Likely benign; Uncertain significance	rs144990801, rs533284372, rs752185665	RCV004577828 RCV004577829 RCV001291326
Premature ovarian insufficiency	Uncertain significance	rs370031835	RCV000766139

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bicuspid Aortic Valve Disease	Associate	36071494
Breast Neoplasms	Associate	22359603, 24667650, 27363015, 29843638, 29940916, 32168782, 35092367, 37350664
Breast Neoplasms	Inhibit	31741180, 32839427
Deafness	Associate	15958501, 31741180
Deafness Autosomal Recessive 35	Associate	18179891
Diabetes Mellitus	Associate	19682370
Endometriosis	Inhibit	39678195
Hearing Loss	Associate	25938503, 31835641, 32681043, 33524517, 34194829, 35101039, 39261511
Hearing Loss Noise Induced	Associate	27399974
Hypoxia	Stimulate	23050013
Inflammation	Associate	11252722
Leukemia	Associate	21637284
Nasopharyngeal Carcinoma	Associate	23803035
Neoplasm Metastasis	Associate	24667650
Neoplasms	Inhibit	20128821, 27363015
Neoplasms	Associate	20870744, 25514243, 30391133, 32839427, 37350664, 37963940
Nonsyndromic Deafness	Stimulate	12529709
Nonsyndromic Deafness	Associate	31389194, 33524517
Ovarian Neoplasms	Associate	34089362
Pancreatic Neoplasms	Associate	24515801
Prostatic Neoplasms	Associate	12947120, 15305379, 20128821, 23679312, 26627478, 37350664
Retinoblastoma	Associate	37179305
Skin Neoplasms	Associate	23950896
Triple Negative Breast Neoplasms	Inhibit	31741180
Urinary Bladder Neoplasms	Associate	25878394
Uterine Cervical Neoplasms	Associate	37350664

ESRRB (estrogen related receptor beta)