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

Gene ID: 2116, updated on 13-Mar-2020

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
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
Expression
Biased expression in testis (RPKM 2.5), duodenum (RPKM 0.3) and 9 other tissues See more
Orthologs

Genomic context

See ETV2 in Genome Data Viewer
Location:
19q13.12
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35641175..35644871)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36132647..36136007)

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 Sharpr-MPRA regulatory region 5913 Neighboring gene RNA binding motif protein 42 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

Homology

Clone Names

  • MGC129834, MGC129835

Gene Ontology Provided by GOA

Process Evidence Code Pubs
BMP signaling pathway involved in mesodermal cell fate specification IEA
Inferred from Electronic Annotation
more info
 
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
blastocyst development IEA
Inferred from Electronic Annotation
more info
 
blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
placenta development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mesoderm development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    O00321
    Related
    ENSP00000384524.2, ENST00000402764.6
    Conserved Domains (1) summary
    smart00413
    Location:240322
    ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    35641175..35644871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526624.2XP_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
  2. XM_005258652.2XP_005258709.1  ETS translocation variant 2 isoform X1

    UniProtKB/Swiss-Prot
    O00321
    Related
    ENSP00000368312.2, ENST00000379026.6
    Conserved Domains (1) summary
    smart00413
    Location:268350
    ETS; erythroblast transformation specific domain
  3. XM_017026472.1XP_016881961.1  ETS translocation variant 2 isoform X2

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