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ETV5 ETS variant 5 [ Homo sapiens (human) ]

Gene ID: 2119, updated on 12-Aug-2018

Summary

Official Symbol
ETV5provided by HGNC
Official Full Name
ETS variant 5provided by HGNC
Primary source
HGNC:HGNC:3494
See related
Ensembl:ENSG00000244405 MIM:601600; Vega:OTTHUMG00000156639
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
Expression
Broad expression in brain (RPKM 25.8), adrenal (RPKM 22.0) and 23 other tissues See more
Orthologs

Genomic context

See ETV5 in Genome Data Viewer
Location:
3q27.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (186046317..186109112, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (185764106..185826901, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene transformer 2 beta homolog Neighboring gene NmrA like redox sensor 2, pseudogene 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: DGKG

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to oxidative stress IDA
Inferred from Direct Assay
more info
PubMed 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
male germ-line stem cell asymmetric division IEA
Inferred from Electronic Annotation
more info
 
neuromuscular synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
positive regulation of glial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of branching involved in mammary gland duct morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of synapse organization IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle acetylcholine-gated channel clustering IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_004454.2NP_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
    Related
    ENSP00000306894.5, OTTHUMP00000210259, ENST00000306376.9, OTTHUMT00000344947
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    186046317..186109112 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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