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ETV4 ETS variant transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 2118, updated on 5-Aug-2022

Summary

Official Symbol
ETV4provided by HGNC
Official Full Name
ETS variant transcription factor 4provided by HGNC
Primary source
HGNC:HGNC:3493
See related
Ensembl:ENSG00000175832 MIM:600711; AllianceGenome:HGNC:3493
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
E1AF; PEA3; E1A-F; PEAS3
Summary
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of keratinocyte differentiation and positive regulation of transcription by RNA polymerase II. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thyroid (RPKM 3.5), brain (RPKM 3.4) and 20 other tissues See more
Orthologs
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Genomic context

See ETV4 in Genome Data Viewer
Location:
17q21.31
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43527846..43546340, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44380321..44398821, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41605214..41623708, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L29 pseudogene 31 Neighboring gene U7 small nuclear RNA Neighboring gene DEAH-box helicase 8 Neighboring gene Sharpr-MPRA regulatory region 2376 Neighboring gene uncharacterized LOC124904008

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in chromosome IDA
Inferred from Direct Assay
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ETS translocation variant 4
Names
EWS protein/E1A enhancer binding protein chimera
adenovirus E1A enhancer-binding protein
ets variant gene 4 (E1A enhancer-binding protein, E1AF)
polyomavirus enhancer activator 3 homolog

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_001079675.5NP_001073143.1  ETS translocation variant 4 isoform 1

    See identical proteins and their annotated locations for NP_001073143.1

    Status: VALIDATED

    Source sequence(s)
    AC068675
    Consensus CDS
    CCDS11465.1
    UniProtKB/Swiss-Prot
    P43268, Q96AW9
    Related
    ENSP00000321835.4, ENST00000319349.10
    Conserved Domains (2) summary
    smart00413
    Location:341424
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:8339
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  2. NM_001261437.3NP_001248366.1  ETS translocation variant 4 isoform 2

    See identical proteins and their annotated locations for NP_001248366.1

    Status: VALIDATED

    Source sequence(s)
    AC068675
    Consensus CDS
    CCDS58553.1
    UniProtKB/Swiss-Prot
    P43268
    Related
    ENSP00000440023.1, ENST00000545954.5
    Conserved Domains (2) summary
    smart00413
    Location:302385
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:8300
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  3. NM_001261438.3NP_001248367.1  ETS translocation variant 4 isoform 2

    See identical proteins and their annotated locations for NP_001248367.1

    Status: VALIDATED

    Source sequence(s)
    AC068675
    Consensus CDS
    CCDS58553.1
    UniProtKB/Swiss-Prot
    P43268
    Related
    ENSP00000443846.1, ENST00000538265.5
    Conserved Domains (2) summary
    smart00413
    Location:302385
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:8300
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  4. NM_001261439.3NP_001248368.1  ETS translocation variant 4 isoform 3

    See identical proteins and their annotated locations for NP_001248368.1

    Status: VALIDATED

    Source sequence(s)
    AC068675
    Consensus CDS
    CCDS59292.1
    UniProtKB/Swiss-Prot
    P43268
    Related
    ENSP00000468636.1, ENST00000586826.1
    Conserved Domains (2) summary
    smart00413
    Location:64147
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:162
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  5. NM_001369366.2NP_001356295.1  ETS translocation variant 4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC068675
    UniProtKB/Swiss-Prot
    Q96AW9
    Conserved Domains (2) summary
    smart00413
    Location:341424
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:8339
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  6. NM_001369367.2NP_001356296.1  ETS translocation variant 4 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC068675
    Conserved Domains (2) summary
    smart00413
    Location:340423
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:8338
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  7. NM_001369368.2NP_001356297.1  ETS translocation variant 4 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC068675
    Conserved Domains (2) summary
    smart00413
    Location:336419
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:8334
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  8. NM_001986.4NP_001977.1  ETS translocation variant 4 isoform 1

    See identical proteins and their annotated locations for NP_001977.1

    Status: VALIDATED

    Source sequence(s)
    AC068675
    Consensus CDS
    CCDS11465.1
    UniProtKB/Swiss-Prot
    P43268, Q96AW9
    Related
    ENSP00000465718.1, ENST00000591713.5
    Conserved Domains (2) summary
    smart00413
    Location:341424
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:8339
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    43527846..43546340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435593.1XP_047291549.1  ETS translocation variant 4 isoform X2

  2. XM_047435592.1XP_047291548.1  ETS translocation variant 4 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    44380321..44398821 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)