ETV4 (ETS variant transcription factor 4)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2118
Gene name ETS variant transcription factor 4
Gene symbol ETV4
Synonyms (NCBI Gene)
E1A-FE1AFPEA3PEAS3
Chromosome 17
Chromosome location 17q21.31
miRNA miRNA information provided by mirtarbase database.
36
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (36)
miRTarBase ID miRNA Experiments Reference
MIRT029786 hsa-miR-26b-5p Microarray 19088304
MIRT736971 hsa-miR-330-5p Luciferase reporter assayWestern blottingqRT-PCR 33760216
MIRT736972 hsa-miR-193a-5p Luciferase reporter assayWestern blottingqRT-PCR 33760216
MIRT736973 hsa-miR-326 Luciferase reporter assayWestern blotting 33760216
MIRT971992 hsa-miR-1197 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
E2F1 Activation 18687701
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 14625302
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 24983502
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600711 3493 ENSG00000175832
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P43268
Protein name ETS translocation variant 4 (Adenovirus E1A enhancer-binding protein) (E1A-F) (Polyomavirus enhancer activator 3 homolog) (Protein PEA3)
Protein function Transcriptional activator (PubMed:19307308, PubMed:31552090). May play a role in keratinocyte differentiation (PubMed:31552090). ; (Microbial infection) Binds to the enhancer o
PDB 4CO8 , 4UUV , 5ILU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04621 ETS_PEA3_N 6 → 339 PEA3 subfamily ETS-domain transcription factor N terminal domain Family
PF00178 Ets 342 → 421 Ets-domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in keratinocytes. {ECO:0000269|PubMed:31552090}.
Sequence
Sequence length 484
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Transcriptional misregulation in cancer   MAPK6/MAPK4 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital anomaly of kidney and urinary tract Likely pathogenic rs373515634 RCV001849612
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (9)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAKUT — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ETV4-related disorder Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (131)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal male sexual function Abnormal Male Sexual Function BEFREE 11094084
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 21143918, 21673681, 9052761
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 21143918
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31253395
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 15695237
★★★★★
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 18711181 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 31506535
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 34552174 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Neoplasm Benign Neoplasm BEFREE 18522746
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 22895549
★★★★★
★☆☆☆☆
Found in Text Mining only