ESRRA

estrogen related receptor alpha, the group of Estrogen related receptors

Basic information

Region (hg38): 11:64305497-64316743

Previous symbols: [ "ESRL1" ]

Links

ENSG00000173153 ∙ NCBI:2101 ∙ OMIM:601998 ∙ HGNC:3471 ∙ Uniprot:P11474 ∙ 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 ESRRA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ESRRA 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				2	1	3
missense			23		1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	2	2

Variants in ESRRA

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

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

Position	Type	Phenotype	Significance	ClinVar
11-64307201-A-C		not specified	Uncertain significance (Jun 16, 2024)
11-64307229-C-T		not specified	Uncertain significance (Mar 15, 2024)
11-64307252-G-A		not specified	Uncertain significance (Feb 16, 2023)
11-64307259-C-T		not specified	Uncertain significance (Jan 22, 2024)
11-64307260-G-A			Likely benign (Apr 26, 2018)
11-64307271-C-T			Benign (Dec 31, 2019)
11-64307277-C-T		not specified	Uncertain significance (Nov 01, 2022)
11-64307291-G-A		not specified	Uncertain significance (Apr 28, 2023)
11-64307350-G-C		not specified	Uncertain significance (Oct 25, 2022)
11-64307369-C-A		not specified	Uncertain significance (Jun 30, 2023)
11-64307372-G-C		not specified	Uncertain significance (Dec 17, 2023)
11-64307375-G-A		not specified	Uncertain significance (Apr 13, 2022)
11-64307437-C-T			Likely benign (Nov 08, 2018)
11-64314039-G-C		not specified	Uncertain significance (Nov 14, 2023)
11-64314256-G-A		not specified	Uncertain significance (Feb 26, 2024)
11-64314317-G-A		not specified	Uncertain significance (Dec 20, 2023)
11-64314326-C-G		not specified	Uncertain significance (Dec 19, 2022)
11-64314338-T-C		not specified	Uncertain significance (Sep 01, 2021)
11-64314346-G-A		not specified	Uncertain significance (Nov 08, 2022)
11-64314842-G-A		not specified	Uncertain significance (Mar 11, 2024)
11-64314846-C-G		not specified	Uncertain significance (Mar 07, 2023)
11-64315119-T-C			Benign (Dec 18, 2018)
11-64315121-A-T		not specified	Uncertain significance (Jul 20, 2021)
11-64315157-C-G		not specified	Uncertain significance (Apr 04, 2023)
11-64315217-G-A		not specified	Uncertain significance (May 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ESRRA	protein_coding	protein_coding	ENST00000405666	6	11172

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.597	0.403	124766	0	6	124772	0.0000240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.08	161	254	0.634	0.0000162	2616
Missense in Polyphen		26	89.12	0.29174		978
Synonymous	0.328	110	114	0.961	0.00000709	954
Loss of Function	2.99	3	15.8	0.189	9.23e-7	183

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000204	0.000194
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000947	0.00000883
Middle Eastern	0.00	0.00
South Asian	0.0000677	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5'-TNAAGGTCA-3'. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires dimerization and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of energy metabolism. Induces the expression of PERM1 in the skeletal muscle. {ECO:0000269|PubMed:12522104, ECO:0000269|PubMed:16150865, ECO:0000269|PubMed:17676930, ECO:0000269|PubMed:18063693, ECO:0000269|PubMed:23836911, ECO:0000269|PubMed:9271417}.
• Pathway: NHR;Energy Metabolism;Nuclear Receptors;Mitochondrial biogenesis;Preimplantation Embryo;Mitochondrial Gene Expression;Transcriptional regulation by RUNX2;Gene expression (Transcription);regulation of pgc-1a;Generic Transcription Pathway;Nuclear Receptor transcription pathway;RNA Polymerase II Transcription;Regulation of RUNX2 expression and activity (Consensus)

Recessive Scores

• pRec: 0.373

Intolerance Scores

• rvis_EVS: -0.36
• rvis_percentile_EVS: 28.93

Haploinsufficiency Scores

• pHI: 0.520
• hipred: Y
• hipred_score: 0.785
• ghis: 0.625

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Esrra
• Phenotype: growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype; normal phenotype; hematopoietic system phenotype; immune system phenotype; skeleton phenotype

Zebrafish Information Network

• Gene name: esrra
• Affected structure: pharyngeal arch 3-7
• Phenotype tag: abnormal
• Phenotype quality: decreased process quality

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of transcription, DNA-templated;transcription initiation from RNA polymerase II promoter;mitochondrion organization;intracellular receptor signaling pathway;response to estradiol;regulation of cell population proliferation;steroid hormone mediated signaling pathway;regulation of osteoblast differentiation;regulation of osteoclast differentiation;positive regulation of transcription by RNA polymerase II;cartilage development;positive regulation of cellular response to insulin stimulus
• Cellular component: fibrillar center;nucleus;nucleoplasm;cytoplasm;microtubule cytoskeleton;intercellular bridge
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;steroid hormone receptor activity;nuclear receptor activity;steroid binding;protein binding;zinc ion binding;protein domain specific binding;sequence-specific DNA binding