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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: 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. 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

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

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