ETS2

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

Basic information

Region (hg38): 21:38805183-38824955

Links

ENSG00000157557NCBI:2114OMIM:164740HGNC:3489Uniprot:P15036AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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 (52 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
2
missense
51
clinvar
1
clinvar
1
clinvar
53
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 51 2 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ETS2protein_codingprotein_codingENST00000360214 919649
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9990.00112125736061257420.0000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.281672730.6120.00001653120
Missense in Polyphen3997.450.40021142
Synonymous0.6001071150.9290.00000803861
Loss of Function4.36124.10.04150.00000103272

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005780.0000578
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00002710.0000264
Middle Eastern0.000.00
South Asian0.00003310.0000327
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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