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    ETV7 ETS variant 7 [ Homo sapiens (human) ]

    Gene ID: 51513, updated on 5-Nov-2017
    Official Symbol
    ETV7provided by HGNC
    Official Full Name
    ETS variant 7provided by HGNC
    Primary source
    HGNC:HGNC:18160
    See related
    Ensembl:ENSG00000010030 MIM:605255; Vega:OTTHUMG00000014594
    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
    Location:
    6p21.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (36354221..36387800, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (36321998..36355577, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375036 Neighboring gene patatin like phospholipase domain containing 1 Neighboring gene chromosome 6 open reading frame 222 Neighboring gene uncharacterized LOC105375037 Neighboring gene peroxisomal, testis specific 1 Neighboring gene RNA, 7SL, cytoplasmic 502, pseudogene Neighboring gene potassium channel tetramerization domain containing 20

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    transcription factor ETV7
    Names
    ETS translocation variant 7
    ETS-related protein Tel2
    Ets transcription factor TEL-2b
    TEL2 oncogene
    ets variant gene 7 (TEL2 oncogene)
    tel-related Ets factor

    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
      5001..38580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001207035.1NP_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, AK122796
      Consensus CDS
      CCDS56425.1
      UniProtKB/Swiss-Prot
      Q9Y603
      Related
      ENSP00000342260.5, OTTHUMP00000278404, ENST00000339796.9, OTTHUMT00000480817
      Conserved Domains (2) summary
      cd08535
      Location:49116
      SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
      smart00413
      Location:223303
      ETS; erythroblast transformation specific domain
    2. NM_001207036.1NP_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, AK122796
      Consensus CDS
      CCDS56423.1
      UniProtKB/Swiss-Prot
      Q9Y603
      Related
      ENSP00000362843.1, ENST00000373738.4
      Conserved Domains (1) summary
      smart00413
      Location:168253
      ETS; erythroblast transformation specific domain
    3. NM_001207037.1NP_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, AK122796
      Consensus CDS
      CCDS75440.1
      UniProtKB/Swiss-Prot
      Q9Y603
      Related
      ENSP00000481885.1, ENST00000615781.4
      Conserved Domains (1) summary
      smart00413
      Location:164249
      ETS; erythroblast transformation specific domain
    4. NM_001207038.1NP_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, AK122796
      Consensus CDS
      CCDS56424.1
      UniProtKB/Swiss-Prot
      Q9Y603
      Related
      ENSP00000362842.4, OTTHUMP00000016291, ENST00000373737.8, OTTHUMT00000040342
      Conserved Domains (2) summary
      cd08535
      Location:49116
      SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
      smart00413
      Location:146231
      ETS; erythroblast transformation specific domain
    5. NM_001207039.1NP_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, AK122796
      Consensus CDS
      CCDS78131.1
      UniProtKB/Swiss-Prot
      Q9Y603
      Related
      ENSP00000486712.1, OTTHUMP00000278405, ENST00000627426.2, OTTHUMT00000480818
      Conserved Domains (1) summary
      smart00413
      Location:168248
      ETS; erythroblast transformation specific domain
    6. NM_001207040.1NP_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, AK122796
      Consensus CDS
      CCDS75441.1
      UniProtKB/Swiss-Prot
      Q9Y603
      Related
      ENSP00000484485.1, ENST00000620358.4
      Conserved Domains (2) summary
      smart00413
      Location:142227
      ETS; erythroblast transformation specific domain
      cl15755
      Location:135
      SAM_superfamily; SAM (Sterile alpha motif )
    7. NM_001207041.1NP_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, AK122796
      Consensus CDS
      CCDS56422.1
      UniProtKB/Swiss-Prot
      Q9Y603
      Related
      ENSP00000440592.1, ENST00000538992.3
      Conserved Domains (1) summary
      smart00413
      Location:72157
      ETS; erythroblast transformation specific domain
    8. NM_016135.3NP_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, AK122796
      Consensus CDS
      CCDS4819.1
      UniProtKB/Swiss-Prot
      Q9Y603
      Related
      ENSP00000341843.4, OTTHUMP00000016290, ENST00000340181.8, OTTHUMT00000040341
      Conserved Domains (2) summary
      cd08535
      Location:49116
      SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
      smart00413
      Location:223308
      ETS; erythroblast transformation specific domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      36354221..36387800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      cd08535
      Location:33100
      SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
      smart00413
      Location:207292
      ETS; erythroblast transformation specific domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      36323808..36357400 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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