ETS2

ETS proto-oncogene 2, transcription factor, the group of ETS transcription factor family

Basic information

Region (hg38): 21:38805182-38824955

Links

ENSG00000157557 ∙ NCBI:2114 ∙ OMIM:164740 ∙ HGNC:3489 ∙ Uniprot:P15036 ∙ 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 ETS2 gene.

• Inborn genetic diseases (18 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ETS2 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	2
missense			18		2	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	3

Variants in ETS2

This is a list of pathogenic ClinVar variants found in the ETS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-38813003-C-T		not specified	Uncertain significance (Oct 26, 2021)
21-38813004-G-A		not specified	Uncertain significance (Feb 28, 2023)
21-38814278-G-A			Benign (Dec 31, 2019)
21-38814284-T-C		not specified	Uncertain significance (Sep 01, 2021)
21-38814325-G-A		not specified	Uncertain significance (Sep 12, 2023)
21-38814331-A-G			Benign/Likely benign (Mar 01, 2022)
21-38814371-C-T		not specified	Uncertain significance (Jan 16, 2024)
21-38814372-G-A		not specified	Uncertain significance (Aug 02, 2021)
21-38814811-G-A		not specified	Uncertain significance (Dec 08, 2023)
21-38817068-A-G		not specified	Uncertain significance (Mar 07, 2023)
21-38818449-A-T		not specified	Uncertain significance (Oct 26, 2022)
21-38818456-G-A		not specified	Uncertain significance (Jun 03, 2022)
21-38818484-C-A			Benign (Feb 01, 2024)
21-38818490-G-A		not specified	Uncertain significance (Sep 13, 2023)
21-38818503-C-T		not specified	Uncertain significance (Jun 21, 2021)
21-38818520-G-A		not specified	Uncertain significance (Jun 22, 2021)
21-38818535-C-G		not specified	Uncertain significance (Sep 16, 2021)
21-38818553-C-T		not specified	Uncertain significance (Aug 02, 2021)
21-38818574-G-A		not specified	Uncertain significance (Apr 25, 2022)
21-38819538-G-A		not specified	Uncertain significance (Dec 18, 2023)
21-38819539-C-T		not specified	Uncertain significance (Mar 29, 2022)
21-38819550-G-C		not specified	Uncertain significance (Dec 07, 2021)
21-38819670-C-T		not specified	Uncertain significance (May 30, 2022)
21-38819677-T-A		not specified	Uncertain significance (Jan 03, 2022)
21-38819748-G-A		not specified	Uncertain significance (Feb 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ETS2	protein_coding	protein_coding	ENST00000360214	9	19649

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.00112	125736	0	6	125742	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.28	167	273	0.612	0.0000165	3120
Missense in Polyphen		39	97.45	0.4002		1142
Synonymous	0.600	107	115	0.929	0.00000803	861
Loss of Function	4.36	1	24.1	0.0415	0.00000103	272

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000271	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000331	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor activating transcription. Binds specifically the DNA GGAA/T core motif (Ets-binding site or EBS) in gene promoters and stimulates transcription. {ECO:0000269|PubMed:11909962}.
• Pathway: HTLV-I infection - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Myometrial Relaxation and Contraction Pathways;Oncogene Induced Senescence;Ras Signaling;mets affect on macrophage differentiation;keratinocyte differentiation;Oncogene Induced Senescence;Cellular Senescence;Cellular responses to stress;FGF;Cellular responses to external stimuli;IL2;C-MYB transcription factor network (Consensus)

Recessive Scores

• pRec: 0.555

Intolerance Scores

• loftool: 0.0776
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.22

Haploinsufficiency Scores

• pHI: 0.728
• hipred: Y
• hipred_score: 0.775
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.956

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ets2
• Phenotype: 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); 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); normal phenotype; neoplasm; embryo phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;skeletal system development;ectodermal cell fate commitment;regulation of transcription by RNA polymerase II;mesoderm development;cell differentiation;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;primitive streak formation
• Cellular component: nucleus;nucleoplasm;cytosol;plasma membrane
• 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;DNA-binding transcription factor activity;protein binding;protein domain specific binding;glucocorticoid receptor binding