Gene Gene information from NCBI Gene database.
Entrez ID 2104
Gene name Estrogen related receptor gamma
Gene symbol ESRRG
Synonyms (NCBI Gene)
ERR-gammaERR3ERRgERRgammaNR3B3
Chromosome 1
Chromosome location 1q41
Summary This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zi
miRNA miRNA information provided by mirtarbase database.
143
miRTarBase ID miRNA Experiments Reference
MIRT437839 hsa-miR-205-5p Luciferase reporter assay 23589079
MIRT437839 hsa-miR-205-5p Luciferase reporter assay 23589079
MIRT668525 hsa-miR-935 HITS-CLIP 23824327
MIRT668524 hsa-miR-6515-3p HITS-CLIP 23824327
MIRT668523 hsa-miR-1236-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NR0B1 Repression 16314306
SIRT1 Activation 19690166
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602969 3474 ENSG00000196482
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62508
Protein name Estrogen-related receptor gamma (ERR gamma-2) (Estrogen receptor-related protein 3) (Nuclear receptor subfamily 3 group B member 3)
Protein function Orphan receptor that acts as a transcription activator in the absence of bound ligand. Binds specifically to an estrogen response element and activates reporter genes controlled by estrogen response elements (By similarity). Induces the expressi
PDB 1KV6 , 1TFC , 1VJB , 2E2R , 2EWP , 2GP7 , 2GPO , 2GPP , 2GPU , 2GPV , 2P7A , 2P7G , 2P7Z , 2ZAS , 2ZBS , 2ZKC , 5YSO , 6A6K , 6I61 , 6I62 , 6I63 , 6I64 , 6I65 , 6I66 , 6I67 , 6K3N , 6KNR , 6XXC , 6XY5 , 6Y18 , 6Y1D , 6Y3W , 6Y58 , 8B4Q , 8BJG , 8BJN , 8BM5 , 8IFO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4 126 195 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 255 441 Ligand-binding domain of nuclear hormone receptor Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the heart, kidney, brain, lung, bone marrow, adrenal gland, trachea, spinal cord and thyroid gland. {ECO:0000269|PubMed:14651967, ECO:0000269|PubMed:9676434}.
Sequence
MDSVELCLPESFSLHYEEELLCRMSNKDRHIDSSCSSFIKTEPSSPASLTDSVNHHSPGG
SSDASGSYSSTMNGHQNGLDSPPLYPSAPILGGSGPVRKLYDDCSSTIVEDPQTKCEYML
NSMPKRLCLVCGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKRRRKSC
QACRFMKCLKVGMLK
EGVRLDRVRGGRQKYKRRIDAENSPYLNPQLVQPAKKPYNKIVSH
LLVAEPEKIYAMPDPTVPDSDIKALTTLCDLADRELVVIIGWAKHIPGFSTLSLADQMSL
LQSAWMEILILGVVYRSLSFEDELVYADDYIMDEDQSKLAGLLDLNNAILQLVKKYKSMK
LEKEEFVTLKAIALANSDSMHIEDVEAVQKLQDVLHEALQDYEAGQHMEDPRRAGKMLMT
LPLLRQTSTKAVQHFYNIKLE
GKVPMHKLFLEMLEAKV
Sequence length 458
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Nuclear Receptor transcription pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 16681769
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 30657313, 31010838
★☆☆☆☆
Found in Text Mining only
Autosomal dominant compelling helio ophthalmic outburst syndrome Achoo syndrome GWASCAT_DG 27182965
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12438245, 19415745, 20883782, 21153485, 23977052, 24125170, 25971350, 29940916
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 18974135, 20889127, 23977052, 24684682, 25971350, 29940916, 35092367 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 16681769, 26940882 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37679788 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25940592 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26940882 Stimulate
★☆☆☆☆
Found in Text Mining only