ETS2

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

Basic information

Region (hg38): 21:38805183-38824955

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.

• not_specified (56 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. These statistics are base on transcript: NM_000005239.6. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			56	1	1	58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	2	2

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
		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

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

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