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    ETV2 ETS variant transcription factor 2 [ Homo sapiens (human) ]

    Gene ID: 2116, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ETV2provided by HGNC
    Official Full Name
    ETS variant transcription factor 2provided by HGNC
    Primary source
    HGNC:HGNC:3491
    See related
    Ensembl:ENSG00000105672 MIM:609358; AllianceGenome:HGNC:3491
    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
    ER71; ETSRP71
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including cell surface receptor signaling pathway; positive regulation of endothelial cell differentiation; and positive regulation of macromolecule biosynthetic process. Predicted to be active in nucleus. Implicated in limb ischemia. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 2.5), duodenum (RPKM 0.3) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ETV2 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35641745..35644871)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38186718..38189844)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36132647..36135773)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene HAUS augmin like complex subunit 5 Neighboring gene tRNA-undetermined (NNN) 10-1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:36118908-36119435 Neighboring gene Sharpr-MPRA regulatory region 5913 Neighboring gene RNA binding motif protein 42 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36132803-36133518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14491 Neighboring gene cytochrome c oxidase subunit 6B1 Neighboring gene UPK1A antisense RNA 1 Neighboring gene uroplakin 1A

    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 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. ETS transcription factor ETV2 directly converts human fibroblasts into functional endothelial cells. Morita R, et al. Proc Natl Acad Sci U S A, 2015 Jan 6. PMID 25540418, Free PMC Article
    2. ETV2 primes hematoendothelial gene enhancers prior to hematoendothelial fate commitment. Steimle JD, et al. Cell Rep, 2023 Jun 27. PMID 37330911, Free PMC Article
    3. ETV2/ER71, the key factor leading the paths to vascular regeneration and angiogenic reprogramming. Kim TM, et al. Stem Cell Res Ther, 2023 Mar 16. PMID 36927793, Free PMC Article
    4. ETV2 promotes osteogenic differentiation of human dental pulp stem cells through the ERK/MAPK and PI3K-Akt signaling pathways. Li J, et al. Stem Cell Res Ther, 2022 Oct 4. PMID 36195958, Free PMC Article
    5. Significant improvement of direct reprogramming efficacy of fibroblasts into progenitor endothelial cells by ETV2 and hypoxia. Van Pham P, et al. Stem Cell Res Ther, 2016 Aug 4. PMID 27488544, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BCL6B-dependent suppression of ETV2 hampers endothelial cell differentiation.
      Title: BCL6B-dependent suppression of ETV2 hampers endothelial cell differentiation.
    2. SOX17/ETV2 improves the direct reprogramming of adult fibroblasts to endothelial cells.
      Title: SOX17/ETV2 improves the direct reprogramming of adult fibroblasts to endothelial cells.
    3. ETV2 primes hematoendothelial gene enhancers prior to hematoendothelial fate commitment.
      Title: ETV2 primes hematoendothelial gene enhancers prior to hematoendothelial fate commitment.
    4. ETV2/ER71, the key factor leading the paths to vascular regeneration and angiogenic reprogramming.
      Title: ETV2/ER71, the key factor leading the paths to vascular regeneration and angiogenic reprogramming.
    5. A 3-Gene Random Forest Model to Diagnose Non-obstructive Azoospermia Based on Transcription Factor-Related Henes.
      Title: A 3-Gene Random Forest Model to Diagnose Non-obstructive Azoospermia Based on Transcription Factor-Related Henes.
    6. ETV2 promotes osteogenic differentiation of human dental pulp stem cells through the ERK/MAPK and PI3K-Akt signaling pathways.
      Title: ETV2 promotes osteogenic differentiation of human dental pulp stem cells through the ERK/MAPK and PI3K-Akt signaling pathways.
    7. ETV2 regulates PARP-1 binding protein to induce ER stress-mediated death in tuberin-deficient cells.
      Title: ETV2 regulates PARP-1 binding protein to induce ER stress-mediated death in tuberin-deficient cells.
    8. Robust differentiation of human pluripotent stem cells into endothelial cells via temporal modulation of ETV2 with modified mRNA.
      Title: Robust differentiation of human pluripotent stem cells into endothelial cells via temporal modulation of ETV2 with modified mRNA.
    9. Morphological characterization of Etv2 vascular explants using fractal analysis and atomic force microscopy.
      Title: Morphological characterization of Etv2 vascular explants using fractal analysis and atomic force microscopy.
    10. Upregulation of ETV2 Expression Promotes Endothelial Differentiation of Human Dental Pulp Stem Cells.
      Title: Upregulation of ETV2 Expression Promotes Endothelial Differentiation of Human Dental Pulp Stem Cells.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129834, MGC129835

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in blastocyst development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in placenta development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of mesoderm development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ETS translocation variant 2
    Names
    ets variant gene 2
    ets-related protein 71

    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_001300974.2 → NP_001287903.1  ETS translocation variant 2 isoform 2

      See identical proteins and their annotated locations for NP_001287903.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC040908, HY053182
      Consensus CDS
      CCDS74341.1
      UniProtKB/TrEMBL
      K7ERX2
      Related
      ENSP00000468453.1, ENST00000479824.5
      Conserved Domains (1) summary
      smart00413
      Location:147 → 229
      ETS; erythroblast transformation specific domain

    2. NM_001304549.2 → NP_001291478.1  ETS translocation variant 2 isoform 3

      See identical proteins and their annotated locations for NP_001291478.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AC002115, BC040908, BC107124, HY053182
      Consensus CDS
      CCDS77281.1
      UniProtKB/TrEMBL
      Q3KNT2
      Related
      ENSP00000368309.3, ENST00000379023.8
      Conserved Domains (1) summary
      smart00413
      Location:53 → 135
      ETS; erythroblast transformation specific domain

    3. NM_014209.4 → NP_055024.2  ETS translocation variant 2 isoform 1

      See identical proteins and their annotated locations for NP_055024.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC040908, BC140746, HY053182
      Consensus CDS
      CCDS32995.2
      UniProtKB/Swiss-Prot
      A6NFN5, B3KUL0, B9EIN1, O00321, Q9UEA0
      UniProtKB/TrEMBL
      B7ZMD4
      Related
      ENSP00000384524.2, ENST00000402764.6
      Conserved Domains (1) summary
      smart00413
      Location:240 → 322
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      35641745..35644871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258652.3 → XP_005258709.1  ETS translocation variant 2 isoform X1

      UniProtKB/TrEMBL
      B7ZMD4
      Related
      ENSP00000368312.2, ENST00000379026.6
      Conserved Domains (1) summary
      smart00413
      Location:268 → 350
      ETS; erythroblast transformation specific domain

    2. XM_047438404.1 → XP_047294360.1  ETS translocation variant 2 isoform X2

    3. XM_011526624.3 → XP_011524926.1  ETS translocation variant 2 isoform X3

      See identical proteins and their annotated locations for XP_011524926.1

      UniProtKB/TrEMBL
      K7ERX2
      Conserved Domains (1) summary
      smart00413
      Location:147 → 229
      ETS; erythroblast transformation specific domain

    4. XM_047438405.1 → XP_047294361.1  ETS translocation variant 2 isoform X3

      UniProtKB/TrEMBL
      K7ERX2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38186718..38189844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320190.1 → XP_054176165.1  ETS translocation variant 2 isoform X1

    2. XM_054320191.1 → XP_054176166.1  ETS translocation variant 2 isoform X2

    3. XM_054320192.1 → XP_054176167.1  ETS translocation variant 2 isoform X3

      UniProtKB/TrEMBL
      K7ERX2

    4. XM_054320193.1 → XP_054176168.1  ETS translocation variant 2 isoform X3

      UniProtKB/TrEMBL
      K7ERX2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00321.2 GenPept UniProtKB/Swiss-Prot:O00321

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