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

Gene ID: 2116, updated on 3-Apr-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 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
mouse all
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Genomic context

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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

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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. 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
  2. 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
  3. Morphological characterization of Etv2 vascular explants using fractal analysis and atomic force microscopy. Adelson RP, et al. Microvasc Res, 2021 Nov. PMID 34146583, Free PMC Article
  4. Upregulation of ETV2 Expression Promotes Endothelial Differentiation of Human Dental Pulp Stem Cells. Li J, et al. Cell Transplant, 2021 Jan-Dec. PMID 33522307, Free PMC Article
  5. Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly. Basel-Salmon L, et al. Eur J Med Genet, 2021 Feb. PMID 33359164

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. ETV2 primes hematoendothelial gene enhancers prior to hematoendothelial fate commitment.
    Title: ETV2 primes hematoendothelial gene enhancers prior to hematoendothelial fate commitment.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly.
    Title: Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly.
Submit: New GeneRIF Correction See all GeneRIFs (20)

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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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_001300974.2 → 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_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_005258652.3 → 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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