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ERF ETS2 repressor factor [ Homo sapiens (human) ]

Gene ID: 2077, updated on 1-Jun-2020

Summary

Official Symbol
ERFprovided by HGNC
Official Full Name
ETS2 repressor factorprovided by HGNC
Primary source
HGNC:HGNC:3444
See related
Ensembl:ENSG00000105722 MIM:611888
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PE2; CRS4; PE-2; CHYTS
Summary
ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Expression
Ubiquitous expression in kidney (RPKM 13.9), fat (RPKM 12.9) and 25 other tissues See more
Orthologs

Genomic context

See ERF in Genome Data Viewer
Location:
19q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (42247561..42255128, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42751717..42759309, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 526 Neighboring gene glycogen synthase kinase 3 alpha Neighboring gene capicua transcriptional repressor Neighboring gene ZFP161 motif-containing MPRA enhancer 284/285 Neighboring gene platelet activating factor acetylhydrolase 1b catalytic subunit 3 Neighboring gene proline rich 19

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

Associated conditions

Description Tests
Chitayat syndrome
MedGen: C4310679 OMIM: 617180 GeneReviews: Not available
Compare labs
Craniosynostosis 4
MedGen: C3806917 OMIM: 600775 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2017-04-13)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2017-04-13)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cell cycle NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ETS domain-containing transcription factor ERF

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.

Genomic

  1. NG_042802.1 RefSeqGene

    Range
    5037..12596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301035.1NP_001287964.1  ETS domain-containing transcription factor ERF isoform 2

    See identical proteins and their annotated locations for NP_001287964.1

    Status: REVIEWED

    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. Variants 2, 3, and 4 all encode isoform 2.
    Source sequence(s)
    AK297666, AW005463, BC022231
    Consensus CDS
    CCDS77308.1
    UniProtKB/Swiss-Prot
    P50548
    Related
    ENSP00000388173.2, ENST00000440177.6
    Conserved Domains (1) summary
    cl02599
    Location:136
    Ets; Ets-domain
  2. NM_001308402.2NP_001295331.1  ETS domain-containing transcription factor ERF isoform 2

    See identical proteins and their annotated locations for NP_001295331.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) 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. Variants 2, 3, and 4 all encode isoform 2.
    Source sequence(s)
    AA961500, BC022231, DC407368
    Consensus CDS
    CCDS77308.1
    UniProtKB/Swiss-Prot
    P50548
    Conserved Domains (1) summary
    cl02599
    Location:136
    Ets; Ets-domain
  3. NM_001312656.2NP_001299585.1  ETS domain-containing transcription factor ERF isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) 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. Variants 2, 3, and 4 all encode isoform 2.
    Source sequence(s)
    AW005463, BC022231, DB246848
    Consensus CDS
    CCDS77308.1
    UniProtKB/Swiss-Prot
    P50548
    Conserved Domains (1) summary
    cl02599
    Location:136
    Ets; Ets-domain
  4. NM_006494.4NP_006485.2  ETS domain-containing transcription factor ERF isoform 1

    See identical proteins and their annotated locations for NP_006485.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AW005463, BC022231, DC371332, U15655
    Consensus CDS
    CCDS12600.1
    UniProtKB/Swiss-Prot
    P50548
    UniProtKB/TrEMBL
    A0A024R0L4
    Related
    ENSP00000222329.3, ENST00000222329.9
    Conserved Domains (2) summary
    smart00413
    Location:26111
    ETS; erythroblast transformation specific domain
    cl26464
    Location:126383
    Atrophin-1; Atrophin-1 family

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
    42247561..42255128 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026469.1XP_016881958.1  ETS domain-containing transcription factor ERF isoform X1

    UniProtKB/Swiss-Prot
    P50548
    Conserved Domains (1) summary
    cl02599
    Location:136
    Ets; Ets-domain
  2. XM_017026468.1XP_016881957.1  ETS domain-containing transcription factor ERF isoform X1

    UniProtKB/Swiss-Prot
    P50548
    Conserved Domains (1) summary
    cl02599
    Location:136
    Ets; Ets-domain
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