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

    Gene ID: 2116, updated on 17-Jun-2024

    Summary

    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 cell differentiation and 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 metabolic process. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 2.5), duodenum (RPKM 0.3) and 9 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ETV2 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35641745..35644871)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38186718..38189844)
    105.20220307 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

    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

    Markers

    Clone Names

    • MGC129834, MGC129835

    Gene Ontology Provided by GOA

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001300974.2NP_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:147229
      ETS; erythroblast transformation specific domain
    2. NM_001304549.2NP_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:53135
      ETS; erythroblast transformation specific domain
    3. NM_014209.4NP_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:240322
      ETS; erythroblast transformation specific domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_005258652.3XP_005258709.1  ETS translocation variant 2 isoform X1

      UniProtKB/TrEMBL
      B7ZMD4
      Related
      ENSP00000368312.2, ENST00000379026.6
      Conserved Domains (1) summary
      smart00413
      Location:268350
      ETS; erythroblast transformation specific domain
    2. XM_047438404.1XP_047294360.1  ETS translocation variant 2 isoform X2

      UniProtKB/TrEMBL
      B7ZMD4
    3. XM_011526624.3XP_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:147229
      ETS; erythroblast transformation specific domain
    4. XM_047438405.1XP_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_054320190.1XP_054176165.1  ETS translocation variant 2 isoform X1

      UniProtKB/TrEMBL
      B7ZMD4
    2. XM_054320191.1XP_054176166.1  ETS translocation variant 2 isoform X2

      UniProtKB/TrEMBL
      B7ZMD4
    3. XM_054320192.1XP_054176167.1  ETS translocation variant 2 isoform X3

      UniProtKB/TrEMBL
      K7ERX2
    4. XM_054320193.1XP_054176168.1  ETS translocation variant 2 isoform X3

      UniProtKB/TrEMBL
      K7ERX2