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ETV7 ETS variant transcription factor 7 [ Homo sapiens (human) ]

Gene ID: 51513, updated on 10-Dec-2024

Summary

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Official Symbol
ETV7provided by HGNC
Official Full Name
ETS variant transcription factor 7provided by HGNC
Primary source
HGNC:HGNC:18160
See related
Ensembl:ENSG00000010030 MIM:605255; AllianceGenome:HGNC:18160
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TEL2; TELB; TEL-2
Summary
The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011]
Expression
Broad expression in duodenum (RPKM 4.4), small intestine (RPKM 3.6) and 19 other tissues See more
Orthologs
all
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Genomic context

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See ETV7 in Genome Data Viewer
Location:
6p21.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (36354088..36387669, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (36174373..36207958, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (36321865..36355446, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17111 Neighboring gene patatin like phospholipase domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36235945-36236531 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:36253718-36253903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36269917-36270417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24423 Neighboring gene BCL2 interacting protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36343773-36344272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36354517-36355340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17113 Neighboring gene ETV7 and PTX1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17114 Neighboring gene peroxisomal testis enriched protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24427 Neighboring gene PXT1 intron CAGE-defined low expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24429 Neighboring gene RNA, 7SL, cytoplasmic 502, pseudogene Neighboring gene potassium channel tetramerization domain containing 20

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. The novel ETS factor TEL2 cooperates with Myc in B lymphomagenesis. Cardone M, et al. Mol Cell Biol, 2005 Mar. PMID 15743832, Free PMC Article
  2. Comprehensive Analysis Identified ETV7 as a Potential Prognostic Biomarker in Bladder Cancer. Li H, et al. Biomed Res Int, 2021. PMID 34926692, Free PMC Article
  3. ETV7 regulates breast cancer stem-like cell features by repressing IFN-response genes. Pezzè L, et al. Cell Death Dis, 2021 Jul 27. PMID 34315857, Free PMC Article
  4. Integrated Analysis of the ETS Family in Melanoma Reveals a Regulatory Role of ETV7 in the Immune Microenvironment. Qu H, et al. Front Immunol, 2020. PMID 33424867, Free PMC Article
  5. ETV7 is an essential component of a rapamycin-insensitive mTOR complex in cancer. Harwood FC, et al. Sci Adv, 2018 Sep. PMID 30258985, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Assembly of mTORC3 Involves Binding of ETV7 to Two Separate Sequences in the mTOR Kinase Domain.
    Title: Assembly of mTORC3 Involves Binding of ETV7 to Two Separate Sequences in the mTOR Kinase Domain.
  2. Exosomal miR-361-3p promotes the viability of breast cancer cells by targeting ETV7 and BATF2 to upregulate the PAI-1/ERK pathway.
    Title: Exosomal miR-361-3p promotes the viability of breast cancer cells by targeting ETV7 and BATF2 to upregulate the PAI-1/ERK pathway.
  3. ETV7 promotes colorectal cancer progression through upregulation of IFIT3.
    Title: ETV7 promotes colorectal cancer progression through upregulation of IFIT3.
  4. ETV7 regulates breast cancer stem-like cell features by repressing IFN-response genes.
    Title: ETV7 regulates breast cancer stem-like cell features by repressing IFN-response genes.
  5. Comprehensive Analysis Identified ETV7 as a Potential Prognostic Biomarker in Bladder Cancer.
    Title: Comprehensive Analysis Identified ETV7 as a Potential Prognostic Biomarker in Bladder Cancer.
  6. Integrated Analysis of the ETS Family in Melanoma Reveals a Regulatory Role of ETV7 in the Immune Microenvironment.
    Title: Integrated Analysis of the ETS Family in Melanoma Reveals a Regulatory Role of ETV7 in the Immune Microenvironment.
  7. ETV7 expression is up-regulated in many types of cancer.ETV7 expression alters mTOR signaling.
    Title: ETV7 is an essential component of a rapamycin-insensitive mTOR complex in cancer.
  8. ETV7 expression enhanced the colony-forming and self-renewal activities of primary myeloid Pten(-/-) cells. In this study we established a transgenic mouse in which we can more accurately model ETV7-associated human tumorigenesis in vivo.
    Title: Establishment of a transgenic mouse to model ETV7 expressing human tumors.
  9. DNAJC15 as a new target gene responsible for ETV7-mediated Doxorubicin-resistance.
    Title: ETV7-Mediated DNAJC15 Repression Leads to Doxorubicin Resistance in Breast Cancer Cells.
  10. LTF (lactotransferrin/lactoferrin), and ETV7 (Ets variant 7) were mainly related with cell apoptosis and immune responses.
    Title: Transcriptional Analysis of Endothelial Cell Alternation Induced by Atrial Natriuretic Polypeptide in Human Umbilical Vein Endothelial Cells.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
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 
Process Evidence Code Pubs
involved_in animal organ morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in 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
  

General protein information

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Preferred Names
transcription factor ETV7
Names
ETS-related protein Tel2
Ets transcription factor TEL-2b
TEL2 oncogene
ets variant gene 7 (TEL2 oncogene)
tel-related Ets factor

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.

Genomic

  1. NG_029211.1 RefSeqGene

    Range
    5132..26607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001207035.2 → NP_001193964.1  transcription factor ETV7 isoform 2

    See identical proteins and their annotated locations for NP_001193964.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon compared to variant 1. This results in a frame-shift and a shorter isoform (2, also known as Tel-2e) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AF116509, AF147782, AF218365, Z84484
    Consensus CDS
    CCDS56425.1
    UniProtKB/TrEMBL
    Q53F65
    Related
    ENSP00000342260.5, ENST00000339796.9
    Conserved Domains (2) summary
    cd08535
    Location:49 → 116
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    smart00413
    Location:223 → 303
    ETS; erythroblast transformation specific domain

  2. NM_001207036.2 → NP_001193965.1  transcription factor ETV7 isoform 3

    See identical proteins and their annotated locations for NP_001193965.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (3, also known as Tel-2d) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AF116509, AF147782, AF218235
    Consensus CDS
    CCDS56423.1
    UniProtKB/TrEMBL
    Q53F65
    Related
    ENSP00000362843.1, ENST00000373738.4
    Conserved Domains (1) summary
    smart00413
    Location:168 → 253
    ETS; erythroblast transformation specific domain

  3. NM_001207037.2 → NP_001193966.1  transcription factor ETV7 isoform 4

    See identical proteins and their annotated locations for NP_001193966.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate donor splice site at an internal exon compared to variant 1. This results in the creation of an upstream ORF (uORF), translation of which will render this transcript a candidate for nonsense-mediated mRNA decay (NMD). However, since the uORF has a weak Kozak signal, translation from a downstream AUG is possible by leaky scanning, resulting in an isoform (4, also known as Tel-2a) with a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AF116508, AF116509, AF147782
    Consensus CDS
    CCDS75440.1
    UniProtKB/Swiss-Prot
    Q9Y603
    Related
    ENSP00000481885.1, ENST00000615781.4
    Conserved Domains (1) summary
    smart00413
    Location:164 → 249
    ETS; erythroblast transformation specific domain

  4. NM_001207038.2 → NP_001193967.1  transcription factor ETV7 isoform 5

    See identical proteins and their annotated locations for NP_001193967.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (5, also known as isoform G) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AF116509, AF147782
    Consensus CDS
    CCDS56424.1
    UniProtKB/Swiss-Prot
    Q9Y603
    Related
    ENSP00000362842.4, ENST00000373737.8
    Conserved Domains (2) summary
    cd08535
    Location:49 → 116
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    smart00413
    Location:146 → 231
    ETS; erythroblast transformation specific domain

  5. NM_001207039.2 → NP_001193968.1  transcription factor ETV7 isoform 6

    See identical proteins and their annotated locations for NP_001193968.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an in-frame coding exon and contains an alternate 3' terminal exon compared to variant 1. This results in a shorter isoform (6, also known as Tel-2f) missing an internal protein segment, and with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AF147782, AF218366, Z84484
    Consensus CDS
    CCDS78131.1
    UniProtKB/Swiss-Prot
    Q9Y603
    Related
    ENSP00000486712.1, ENST00000627426.2
    Conserved Domains (1) summary
    smart00413
    Location:168 → 248
    ETS; erythroblast transformation specific domain

  6. NM_001207040.2 → NP_001193969.1  transcription factor ETV7 isoform 7

    See identical proteins and their annotated locations for NP_001193969.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an exon in the 5' region compared to variant 1. This results in the creation of two upstream ORFs (uORFs), translation of which will render this transcript a candidate for nonsense-mediated mRNA decay (NMD). However, since both uORFs have weak Kozak signals, translation from an in-frame downstream AUG is possible by leaky scanning, resulting in an isoform (7, also known as Tel-2c) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF116510, AF147782
    Consensus CDS
    CCDS75441.1
    UniProtKB/Swiss-Prot
    Q9Y603
    Related
    ENSP00000484485.1, ENST00000620358.4
    Conserved Domains (2) summary
    smart00413
    Location:142 → 227
    ETS; erythroblast transformation specific domain
    cl15755
    Location:1 → 35
    SAM_superfamily; SAM (Sterile alpha motif )

  7. NM_001207041.2 → NP_001193970.1  transcription factor ETV7 isoform 8

    See identical proteins and their annotated locations for NP_001193970.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks two consecutive coding exons compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (8) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF116509, AF147782
    Consensus CDS
    CCDS56422.1
    UniProtKB/Swiss-Prot
    Q9Y603
    Related
    ENSP00000440592.1, ENST00000538992.3
    Conserved Domains (1) summary
    smart00413
    Location:72 → 157
    ETS; erythroblast transformation specific domain

  8. NM_016135.4 → NP_057219.1  transcription factor ETV7 isoform 1

    See identical proteins and their annotated locations for NP_057219.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as Tel-2b).
    Source sequence(s)
    AF116509, AF147782
    Consensus CDS
    CCDS4819.1
    UniProtKB/Swiss-Prot
    B3KVC2, B4DVB6, B4E1G4, Q5R3L3, Q5R3L4, Q9NZ65, Q9NZ66, Q9NZ68, Q9NZR8, Q9UNJ7, Q9Y5K4, Q9Y603, Q9Y604
    UniProtKB/TrEMBL
    Q53F65
    Related
    ENSP00000341843.4, ENST00000340181.9
    Conserved Domains (2) summary
    cd08535
    Location:49 → 116
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    smart00413
    Location:223 → 308
    ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    36354088..36387669 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514659.2 → XP_011512961.1  transcription factor ETV7 isoform X1

    UniProtKB/TrEMBL
    Q53F65
    Conserved Domains (2) summary
    cd08535
    Location:33 → 100
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    smart00413
    Location:207 → 292
    ETS; erythroblast transformation specific domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    36174373..36207958 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355586.1 → XP_054211561.1  transcription factor ETV7 isoform X1

    UniProtKB/TrEMBL
    Q53F65
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y603.1 GenPept UniProtKB/Swiss-Prot:Q9Y603

Gene LinkOut

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