Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2104
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Estrogen related receptor gamma |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
ESRRG |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
ERR-gamma, ERR3, ERRg, ERRgamma, NR3B3 |
Chromosome
Chromosome number
|
1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q41 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
UniProt ID |
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 |
|
Sequence length |
458 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 View all (71 more) |
29059683 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental depression |
Major Depressive Disorder |
|
29071344 |
ClinVar |
Mental Depression |
Mental Depression |
|
|
GWAS |
Intracranial Aneurysm |
Intracranial Aneurysm |
|
|
GWAS |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Tremor |
Tremor |
|
|
GWAS |
Astrocytoma |
Astrocytoma |
|
|
GWAS |
Dyslexia |
Dyslexia |
|
|
GWAS |
Atrial Fibrillation |
Atrial Fibrillation |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Breast Neoplasms |
Associate
|
18974135, 20889127, 23977052, 24684682, 25971350, 29940916, 35092367 |
Carcinogenesis |
Associate
|
16681769, 26940882 |
Carcinogenesis |
Inhibit
|
37679788 |
Carcinoma Hepatocellular |
Associate
|
25940592 |
Carcinoma Hepatocellular |
Stimulate
|
26940882 |
Carcinoma Renal Cell |
Associate
|
27128972, 30131446 |
Cardiomyopathy Hypertrophic |
Associate
|
37802074 |
Coronary Disease |
Associate
|
34883250 |
Developmental Disabilities |
Associate
|
27381092 |
Diabetes Mellitus Type 2 |
Associate
|
34883250 |
Endometrial Neoplasms |
Associate
|
16681769, 23051957 |
Endometriosis |
Inhibit
|
39678195 |
Esophageal Squamous Cell Carcinoma |
Inhibit
|
37679788 |
Fetal Growth Retardation |
Inhibit
|
26051094, 35594451 |
Fetal Growth Retardation |
Associate
|
39199376 |
Hearing Loss |
Associate
|
27381092 |
Heart Diseases |
Associate
|
19471316 |
Heart Failure |
Associate
|
35418170 |
Hypoxia |
Stimulate
|
23050013, 35594451 |
Hypoxia |
Associate
|
36787804 |
Liver Cirrhosis Biliary |
Associate
|
24687322 |
Lymphatic Metastasis |
Stimulate
|
26940882 |
Migraine Disorders |
Associate
|
34380431 |
Neoplasm Metastasis |
Inhibit
|
16681769 |
Neoplasm Metastasis |
Associate
|
25971350, 37653798 |
Neoplasms |
Associate
|
19822186, 26940882, 32571331 |
Neoplasms |
Inhibit
|
20128821, 31002184 |
Obesity |
Associate
|
11705994, 27113491 |
Osteoporosis |
Associate
|
19821770 |
Ovarian Neoplasms |
Associate
|
34089362 |
Placenta Diseases |
Associate
|
35594451 |
Pre Eclampsia |
Associate
|
26051094 |
Primary Ovarian Insufficiency |
Associate
|
31692519 |
Prolactinoma |
Associate
|
32427851 |
Prostatic Neoplasms |
Associate
|
20128821 |
Pulmonary Edema |
Associate
|
34883250 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
31002184, 35794182 |
Stiff Skin Syndrome |
Associate
|
28852080 |
Stomach Neoplasms |
Associate
|
32571331, 37653798 |
Triple Negative Breast Neoplasms |
Associate
|
27038254 |
Weight Loss |
Associate
|
34883250 |
|