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

Gene ID: 51513, updated on 23-Nov-2021

Summary

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
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
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Genomic context

See ETV7 in Genome Data Viewer
Location:
6p21.31
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (36354088..36387669, complement)
105.20201022 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 patatin like phospholipase domain containing 1 Neighboring gene BCL2 interacting protein 5 Neighboring gene ETV7 and PTX1 antisense RNA 1 Neighboring gene peroxisomal testis enriched protein 1 Neighboring gene PXT1 intron CAGE-defined low expression enhancer Neighboring gene RNA, 7SL, cytoplasmic 502, pseudogene Neighboring gene potassium channel tetramerization domain containing 20

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

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
PubMed 

General protein information

Preferred Names
transcription factor ETV7
Names
ETS translocation variant 7
ETS variant 7
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..38713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001207035.2NP_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/Swiss-Prot
    Q9Y603
    Related
    ENSP00000342260.5, ENST00000339796.9
    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_001207036.2NP_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/Swiss-Prot
    Q9Y603
    Related
    ENSP00000362843.1, ENST00000373738.4
    Conserved Domains (1) summary
    smart00413
    Location:168253
    ETS; erythroblast transformation specific domain
  3. NM_001207037.2NP_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:164249
    ETS; erythroblast transformation specific domain
  4. NM_001207038.2NP_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: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_001207039.2NP_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:168248
    ETS; erythroblast transformation specific domain
  6. NM_001207040.2NP_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:142227
    ETS; erythroblast transformation specific domain
    cl15755
    Location:135
    SAM_superfamily; SAM (Sterile alpha motif )
  7. NM_001207041.2NP_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:72157
    ETS; erythroblast transformation specific domain
  8. NM_016135.4NP_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
    Q9Y603
    Related
    ENSP00000341843.4, ENST00000340181.9
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    36354088..36387669 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
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