Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
MIRT971993	hsa-miR-1913	CLIP-seq
MIRT971994	hsa-miR-3189-5p	CLIP-seq
MIRT971995	hsa-miR-324-3p	CLIP-seq
MIRT971996	hsa-miR-4450	CLIP-seq
MIRT971997	hsa-miR-4758-3p	CLIP-seq
MIRT971998	hsa-miR-491-5p	CLIP-seq
MIRT2222384	hsa-miR-1292	CLIP-seq
MIRT2222385	hsa-miR-1915	CLIP-seq
MIRT2222386	hsa-miR-29a	CLIP-seq
MIRT2222387	hsa-miR-29b	CLIP-seq
MIRT2222388	hsa-miR-29c	CLIP-seq
MIRT2222389	hsa-miR-3192	CLIP-seq
MIRT2222390	hsa-miR-3663-3p	CLIP-seq
MIRT2222391	hsa-miR-4314	CLIP-seq
MIRT2222392	hsa-miR-4471	CLIP-seq
MIRT2222393	hsa-miR-4511	CLIP-seq
MIRT2222394	hsa-miR-4646-5p	CLIP-seq
MIRT2525879	hsa-miR-125a-3p	CLIP-seq
MIRT2525880	hsa-miR-3918	CLIP-seq
MIRT2525881	hsa-miR-4452	CLIP-seq
MIRT2525882	hsa-miR-4680-3p	CLIP-seq
MIRT2525883	hsa-miR-4685-5p	CLIP-seq
MIRT2525884	hsa-miR-4691-5p	CLIP-seq
MIRT2525885	hsa-miR-4726-3p	CLIP-seq
MIRT2525879	hsa-miR-125a-3p	CLIP-seq
MIRT2525880	hsa-miR-3918	CLIP-seq
MIRT2525881	hsa-miR-4452	CLIP-seq
MIRT2525882	hsa-miR-4680-3p	CLIP-seq
MIRT2525883	hsa-miR-4685-5p	CLIP-seq
MIRT2525884	hsa-miR-4691-5p	CLIP-seq
MIRT2525885	hsa-miR-4726-3p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
E2F1	Activation	18687701

Show/Hide all (22)

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
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	22458338, 32296183, 32911434
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IMP	31552090
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	24983502
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600711	3493	ENSG00000175832

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

MERRMKAGYLDQQVPYTFSSKSPGNGSLREALIGPLGKLMDPGSLPPLDSEDLFQDLSHF
QETWLAEAQVPDSDEQFVPDFHSENLAFHSPTTRIKKEPQSPRTDPALSCSRKPPLPYHH
GEQCLYSSAYDPPRQIAIKSPAPGALGQSPLQPFPRAEQRNFLRSSGTSQPHPGHGYLGE
HSSVFQQPLDICHSFTSQGGGREPLPAPYQHQLSEPCPPYPQQSFKQEYHDPLYEQAGQP
AVDQGGVNGHRYPGAGVVIKQEQTDFAYDSDVTGCASMYLHTEGFSGPSPGDGAMGYGYE
KPLRPFPDDVCVVPEKFEGDIKQEGVGAFREGPPYQRRGALQLWQFLVALLDDPTNAHFI
AWTGRGMEFKLIEPEEVARLWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKF
VCEPEALFSLAFPDNQRPALKAEFDRPVSEEDTVPLSHLDESPAYLPELAGPAQPFGPKG
GYSY

Sequence length

484

Interactions

View interactions

	KEGG		Reactome
	Transcriptional misregulation in cancer		MAPK6/MAPK4 signaling

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital anomaly of kidney and urinary tract	Likely pathogenic	rs373515634	RCV001849612

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ETV4-related disorder	Likely benign	rs75202146, rs35270564	RCV003943905 RCV003971528
Familial cancer of breast	Benign; Likely benign	rs2271959, rs58471799	RCV005925237 RCV005907717
Uterine carcinosarcoma	Benign	rs2242598, rs2271959	RCV005917249 RCV005925239
Uveal melanoma	Benign	rs2271959	RCV005925238

Show/Hide Text Mining Associations (57)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	21143918, 33506581, 33648461
Adenocarcinoma of Lung	Associate	26356813, 34850664
Aneuploidy	Associate	18711181
Angiofibroma	Associate	27633981
Asthma	Associate	34552174
Breast Neoplasms	Associate	11821815, 15452162, 15870086, 17060941, 19483189, 21831961, 22075993, 7914192
Cakut	Associate	36694287
Calcinosis Cutis	Stimulate	17475671
Calcinosis Cutis	Associate	21143918
Carcinogenesis	Associate	29117940
Carcinoma Hepatocellular	Associate	33667649, 37474643, 37986299
Carcinoma Hepatocellular	Stimulate	35121725
Carcinoma Non Small Cell Lung	Associate	35422093
Carcinoma Renal Cell	Associate	32305558, 36059531
Carcinosarcoma	Associate	32899312
Cardiomyopathy Hypertrophic	Associate	33757590
Colorectal Neoplasms	Associate	33648461, 35860243, 35892269, 37248886
Death	Associate	18711181
Desmoplastic Small Round Cell Tumor	Associate	28233365
Diabetic Nephropathies	Associate	23242724
Endocrine System Diseases	Inhibit	15452162
Esophageal Neoplasms	Associate	36815135
Glioma	Associate	17938207
Hemangiosarcoma	Associate	28233365
Hypoxia	Associate	22075993, 26452058
Hypoxia Brain	Associate	22075993
Inflammation	Associate	21150337
Liposarcoma Myxoid	Associate	27443513, 27790742
Liposarcoma Myxoid	Stimulate	27562494
Lung Neoplasms	Associate	15611127, 21150337, 35422093
Lymphatic Metastasis	Associate	17060941, 37248886
Lymphatic Metastasis	Stimulate	32196595
Melanoma	Associate	21087211, 21569352, 35871080
Multiple Myeloma	Associate	37934799
Neoplasm Metastasis	Associate	16738319, 17938207, 21143918, 21673681, 32196595, 33918387
Neoplasm Metastasis	Stimulate	32305558, 35121725
Neoplasms	Associate	15785755, 17475671, 17938207, 18522746, 19483189, 20980337, 21143918, 21668942, 23244085, 25544710, 26015570, 26238631, 26544944, 27633981, 28186998 View all (10 more)
Neoplasms	Inhibit	17060941
Neuroblastoma	Associate	9197532
Neurofibrosarcoma	Associate	18522746
Ovarian Neoplasms	Associate	17475671, 32977853
Pancreatic Neoplasms	Stimulate	29117940
Prostate Cancer Hereditary 7	Associate	25595908
Prostatic Neoplasms	Associate	17059688, 17334343, 18483239, 18711181, 18794152, 22922762, 23244085, 23814484, 24815454, 25203299, 25544710, 25595908, 30988330, 35871080, 37002241
Prostatitis	Associate	19465903, 23814484, 36125519, 37002241
Rh Null Regulator Type	Associate	25866208
Sarcoma	Associate	27443513, 27790742, 35440765
Sarcoma Ewing	Associate	12186432, 17334332, 17620387, 34465585
Seminoma	Associate	16158187
Senior Loken Syndrome	Associate	36694287
Small Cell Lung Carcinoma	Associate	36509998
Squamous Cell Carcinoma of Head and Neck	Associate	8774124
Stomach Neoplasms	Associate	16707434, 21673681, 32106376, 32196595
Thyroid Neoplasms	Associate	30272326
Tuberculosis Multidrug Resistant	Associate	20980337
Urethritis	Associate	36694287
Urinary Bladder Neoplasms	Associate	32018225, 37542643

ETV4 (ETS variant transcription factor 4)