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ETV5 ETS variant transcription factor 5 [ Homo sapiens (human) ]

Gene ID: 2119, updated on 16-Apr-2024

Summary

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Official Symbol
ETV5provided by HGNC
Official Full Name
ETS variant transcription factor 5provided by HGNC
Primary source
HGNC:HGNC:3494
See related
Ensembl:ENSG00000244405 MIM:601600; AllianceGenome:HGNC:3494
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ERM
Summary
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cellular response to oxidative stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 25.8), adrenal (RPKM 22.0) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
3q27.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186046314..186109089, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (188862123..188924868, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (185764103..185826878, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:185655136-185655863 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:185666824-185667766 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:185667767-185668709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:185670624-185671147 Neighboring gene transformer 2 beta homolog Neighboring gene Sharpr-MPRA regulatory region 2251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:185701333-185701854 Neighboring gene NmrA like redox sensor 2, pseudogene Neighboring gene uncharacterized LOC124909470 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:185795356-185795551 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:185815375-185815888 Neighboring gene ETV5 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20931 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:185826419-185827397 Neighboring gene uncharacterized LOC105374257 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:185911899-185912696 Neighboring gene diacylglycerol kinase gamma Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:185927717-185928344 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:185933195-185933911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:185939275-185940188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14982 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:185986639-185986811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:186078791-186079308

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Biological and prognostic value of ETV5 in high-grade serous ovarian cancer. Zhang L, et al. J Ovarian Res, 2021 Nov 4. PMID 34736492, Free PMC Article
  2. The role of E26 transformation-specific variant transcription factor 5 in colorectal cancer cell proliferation and cell cycle progression. Peng Y, et al. Cell Death Dis, 2021 Apr 30. PMID 33931578, Free PMC Article
  3. ETV5 overexpression contributes to tumor growth and progression of thyroid cancer through PIK3CA. Meng D, et al. Life Sci, 2020 Jul 15. PMID 32325133
  4. ETS Factor ETV5 Activates the Mutant Telomerase Reverse Transcriptase Promoter in Thyroid Cancer. Bullock M, et al. Thyroid, 2019 Nov. PMID 31452441
  5. ETV5 links the FGFR3 and Hippo signalling pathways in bladder cancer. di Martino E, et al. Sci Rep, 2019 Apr 5. PMID 30952872, Free PMC Article

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. YTHDF2 Is a Therapeutic Target for HCC by Suppressing Immune Evasion and Angiogenesis Through ETV5/PD-L1/VEGFA Axis.
    Title: YTHDF2 Is a Therapeutic Target for HCC by Suppressing Immune Evasion and Angiogenesis Through ETV5/PD-L1/VEGFA Axis.
  2. ETV5 transcriptionally activates TGFbeta1 and promotes cancer cell invasion and migration of NSCLC.
    Title: ETV5 transcriptionally activates TGFβ1 and promotes cancer cell invasion and migration of NSCLC.
  3. E26 transformation-specific transcription variant 5 in development and cancer: modification, regulation and function.
    Title: E26 transformation-specific transcription variant 5 in development and cancer: modification, regulation and function.
  4. ETV5 overexpression promotes progression of esophageal squamous cell carcinoma by upregulating SKA1 and TRPV2.
    Title: ETV5 overexpression promotes progression of esophageal squamous cell carcinoma by upregulating SKA1 and TRPV2.
  5. Human Islet MicroRNA-200c Is Elevated in Type 2 Diabetes and Targets the Transcription Factor ETV5 to Reduce Insulin Secretion.
    Title: Human Islet MicroRNA-200c Is Elevated in Type 2 Diabetes and Targets the Transcription Factor ETV5 to Reduce Insulin Secretion.
  6. Chromatin accessibility analysis identifies the transcription factor ETV5 as a suppressor of adipose tissue macrophage activation in obesity.
    Title: Chromatin accessibility analysis identifies the transcription factor ETV5 as a suppressor of adipose tissue macrophage activation in obesity.
  7. Biological and prognostic value of ETV5 in high-grade serous ovarian cancer.
    Title: Biological and prognostic value of ETV5 in high-grade serous ovarian cancer.
  8. The role of E26 transformation-specific variant transcription factor 5 in colorectal cancer cell proliferation and cell cycle progression.
    Title: The role of E26 transformation-specific variant transcription factor 5 in colorectal cancer cell proliferation and cell cycle progression.
  9. ETS variant transcription factor 5 and c-Myc cooperate in derepressing the human telomerase gene promoter via composite ETS/E-box motifs.
    Title: ETS variant transcription factor 5 and c-Myc cooperate in derepressing the human telomerase gene promoter via composite ETS/E-box motifs.
  10. The ETS transcription factor ETV5 is a target of activated ALK in neuroblastoma contributing to increased tumour aggressiveness.
    Title: The ETS transcription factor ETV5 is a target of activated ALK in neuroblastoma contributing to increased tumour aggressiveness.
Submit: New GeneRIF Correction See all GeneRIFs (49)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
EBI GWAS Catalog
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of ets variant 5 (ETV5) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: DGKG

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to oxidative stress IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in male germ-line stem cell asymmetric division IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of glial cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ETS translocation variant 5
Names
ets-related molecule
ets-related protein ERM

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_004454.3 → NP_004445.1  ETS translocation variant 5

    See identical proteins and their annotated locations for NP_004445.1

    Status: VALIDATED

    Source sequence(s)
    AC108671, AC112649, AC131156
    Consensus CDS
    CCDS33906.1
    UniProtKB/Swiss-Prot
    A6NH46, B7Z7D7, P41161, Q6IBN5
    Related
    ENSP00000306894.5, ENST00000306376.10
    Conserved Domains (2) summary
    smart00413
    Location:367 → 452
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2 → 366
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    186046314..186109089 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    188862123..188924868 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P41161.1 GenPept UniProtKB/Swiss-Prot:P41161

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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