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ETV5 ETS variant transcription factor 5 [ Homo sapiens (human) ]

Gene ID: 2119, updated on 31-Jan-2023

Summary

Official Symbol
ETV5provided by HGNC
Official Full Name
ETS variant transcription factor 5provided by HGNC
Primary source
HGNC:HGNC:3494
See related
Ensembl:ENSG00000244405 MIM:601600; AllianceGenome:HGNC:3494
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
ERM
Summary
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cellular response to oxidative stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 25.8), adrenal (RPKM 22.0) and 23 other tissues See more
Orthologs
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Genomic context

See ETV5 in Genome Data Viewer
Location:
3q27.2
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186046314..186109089, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (188862123..188924868, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (185764103..185826878, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene transformer 2 beta homolog Neighboring gene Sharpr-MPRA regulatory region 2251 Neighboring gene NmrA like redox sensor 2, pseudogene Neighboring gene uncharacterized LOC124909470 Neighboring gene uncharacterized LOC105374257 Neighboring gene diacylglycerol kinase gamma

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?

Phenotypes

EBI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
EBI GWAS Catalog
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of ets variant 5 (ETV5) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: DGKG

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 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ETS translocation variant 5
Names
ets-related molecule
ets-related protein ERM

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_004454.3NP_004445.1  ETS translocation variant 5

    See identical proteins and their annotated locations for NP_004445.1

    Status: VALIDATED

    Source sequence(s)
    AC108671, AC112649, AC131156
    Consensus CDS
    CCDS33906.1
    UniProtKB/Swiss-Prot
    P41161, Q6IBN5
    Related
    ENSP00000306894.5, ENST00000306376.10
    Conserved Domains (2) summary
    smart00413
    Location:367452
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2366
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    186046314..186109089 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    188862123..188924868 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)