ESRRG

estrogen related receptor gamma, the group of Estrogen related receptors

Basic information

Region (hg38): 1:216503245-217137755

Links

ENSG00000196482 ∙ NCBI:2104 ∙ OMIM:602969 ∙ HGNC:3474 ∙ Uniprot:P62508 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ESRRG gene.

• Inborn genetic diseases (9 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ESRRG gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	9	0	2

Variants in ESRRG

This is a list of pathogenic ClinVar variants found in the ESRRG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-216507027-T-C		not specified	Uncertain significance (Jul 09, 2021)
1-216507180-G-C		not specified	Uncertain significance (Aug 02, 2022)
1-216519217-T-C		Premature ovarian insufficiency	Uncertain significance (Jan 10, 2018)
1-216519344-C-T		not specified	Uncertain significance (Jul 26, 2021)
1-216567988-A-T		not specified	Uncertain significance (Nov 28, 2023)
1-216568054-G-A		not specified	Uncertain significance (Dec 27, 2022)
1-216651070-G-A			Benign (Dec 31, 2019)
1-216651075-T-C		not specified	Uncertain significance (Dec 21, 2023)
1-216677067-G-A			Benign (Jul 16, 2018)
1-216677148-T-C		not specified	Uncertain significance (Oct 26, 2022)
1-216677391-C-T		not specified	Uncertain significance (Dec 23, 2022)
1-216677462-C-T		not specified	Uncertain significance (Sep 28, 2022)
1-216677475-A-G		not specified	Uncertain significance (Apr 08, 2022)
1-216707373-A-AAC		Premature ovarian insufficiency	Uncertain significance (Jan 10, 2018)
1-216723259-A-G		not specified	Uncertain significance (Dec 20, 2023)
1-216723284-G-A		not specified	Uncertain significance (Apr 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ESRRG	protein_coding	protein_coding	ENST00000366937	7	634510

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0712	0.928	125739	0	7	125746	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.56	155	274	0.566	0.0000152	3084
Missense in Polyphen		52	124.19	0.41873		1414
Synonymous	-0.672	115	106	1.08	0.00000642	902
Loss of Function	3.05	6	21.1	0.284	0.00000118	252

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000455	0.0000440
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor that acts as 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 expression of PERM1 in the skeletal muscle. {ECO:0000250, ECO:0000269|PubMed:11864604, ECO:0000269|PubMed:18063693, ECO:0000269|PubMed:19067653, ECO:0000269|PubMed:23836911}.
• Pathway: NHR;Gene expression (Transcription);Generic Transcription Pathway;Nuclear Receptor transcription pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.194

Intolerance Scores

• loftool: 0.0338
• rvis_EVS: -0.56
• rvis_percentile_EVS: 19.31

Haploinsufficiency Scores

• pHI: 0.423
• hipred: Y
• hipred_score: 0.825
• ghis: 0.513

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.975

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Esrrg
• Phenotype: growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype; renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hearing/vestibular/ear phenotype

Zebrafish Information Network

• Gene name: esrrgb
• Affected structure: otolith
• Phenotype tag: abnormal
• Phenotype quality: absent

Gene ontology

• Biological process: regulation of transcription, DNA-templated;transcription initiation from RNA polymerase II promoter;steroid hormone mediated signaling pathway;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;retinoic acid receptor signaling pathway;positive regulation of cold-induced thermogenesis
• Cellular component: nucleoplasm
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;steroid hormone receptor activity;nuclear receptor activity;steroid binding;protein binding;zinc ion binding;AF-2 domain binding