ETS2 ETS proto-oncogene 2, transcription factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: ETS2provided by HGNC
Official Full Name: ETS proto-oncogene 2, transcription factorprovided by HGNC
Primary source: HGNC:HGNC:3489
See related: Ensembl:ENSG00000157557 MIM:164740; AllianceGenome:HGNC:3489
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: ETS2IT1
Summary: This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Expression: Ubiquitous expression in spleen (RPKM 50.4), small intestine (RPKM 39.5) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (38805183..38824955)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (37188973..37208712)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (40177107..40196879)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NNMT switches the proangiogenic phenotype of cancer-associated fibroblasts via epigenetically regulating ETS2/VEGFA axis.
Title: NNMT switches the proangiogenic phenotype of cancer-associated fibroblasts via epigenetically regulating ETS2/VEGFA axis.
ID2-ETS2 axis regulates the transcriptional acquisition of pro-tumoral microglia phenotype in glioma.
Title: ID2-ETS2 axis regulates the transcriptional acquisition of pro-tumoral microglia phenotype in glioma.
A disease-associated gene desert directs macrophage inflammation through ETS2.
Title: A disease-associated gene desert directs macrophage inflammation through ETS2.
USP39-Mediated Non-Proteolytic Control of ETS2 Suppresses Nuclear Localization and Activity.
Title: USP39-Mediated Non-Proteolytic Control of ETS2 Suppresses Nuclear Localization and Activity.
ETS2 promotes cardiomyocyte apoptosis and autophagy in heart failure by regulating lncRNA TUG1/miR-129-5p/ATG7 axis.
Title: ETS2 promotes cardiomyocyte apoptosis and autophagy in heart failure by regulating lncRNA TUG1/miR-129-5p/ATG7 axis.
ETS2 alleviates acute-on-chronic liver failure by suppressing excessive inflammation.
Title: ETS2 alleviates acute-on-chronic liver failure by suppressing excessive inflammation.
Suppression of USP7 negatively regulates the stability of ETS proto-oncogene 2 protein.
Title: Suppression of USP7 negatively regulates the stability of ETS proto-oncogene 2 protein.
A novel tissue specific alternative splicing variant mitigates phenotypes in Ets2 frame-shift mutant models.
Title: A novel tissue specific alternative splicing variant mitigates phenotypes in Ets2 frame-shift mutant models.
Codon Optimization, Cloning, Expression, Purification, and Secondary Structure Determination of Human ETS2 Transcription Factor.
Title: Codon Optimization, Cloning, Expression, Purification, and Secondary Structure Determination of Human ETS2 Transcription Factor.
Transcription factor Ets-2 regulates the expression of key lymphotropic factors.
Title: Transcription factor Ets-2 regulates the expression of key lymphotropic factors.

Submit: New GeneRIF Correction See all GeneRIFs (89)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study on overall survival of advanced non-small cell lung cancer patients treated with carboplatin and paclitaxel. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of v-ets erythroblastosis virus E26 oncogene homolog 2 (avian, ETS2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ETV2 (e-PCR)
- UniSTS:266755

GDB:185172 (e-PCR)
- UniSTS:155427

SHGC-83279 (e-PCR)
- UniSTS:101157

GDB:192320 (e-PCR)
- UniSTS:155711

D21S1959 (e-PCR)
- UniSTS:61534

D21S1843 (e-PCR)
- UniSTS:68966

SHGC-51836 (e-PCR)
- UniSTS:70565

D21S1956 (e-PCR)
- UniSTS:428

SHGC-6939 (e-PCR)
- UniSTS:67504

WI-9128 (e-PCR)
- UniSTS:69308

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables nuclear glucocorticoid receptor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in ectodermal cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in primitive streak formation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed

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

General protein information

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Preferred Names: protein C-ets-2

Names: oncogene ETS-2; v-ets avian erythroblastosis virus E2 oncogene homolog 2; v-ets avian erythroblastosis virus E26 oncogene homolog 2; v-ets erythroblastosis virus E26 oncogene homolog 2

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)

NM_001256295.2 → NP_001243224.1 protein C-ets-2 isoform 2

See identical proteins and their annotated locations for NP_001243224.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding region, and initiates translation at an alternate start codon, compared to variant 1. The resulting protein (isoform 2) has a longer N-terminus compared to isoform 1.

Source sequence(s)

AK000535, AK096841, AP001040, AP001041

Conserved Domains (3) summary

cd08543
Location:225 → 313

SAM_PNT-ETS-2; Sterile alpha motif (SAM)/Pointed domain of ETS-2

smart00413
Location:502 → 586

ETS; erythroblast transformation specific domain

pfam05350
Location:39 → 143

GSK-3_bind; Glycogen synthase kinase-3 binding
NM_005239.6 → NP_005230.1 protein C-ets-2 isoform 1

See identical proteins and their annotated locations for NP_005230.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter protein (isoform 1).

Source sequence(s)

AA452482, AK000535, BC042954, J04102

Consensus CDS

CCDS13659.1

UniProtKB/Swiss-Prot

A6NM68, D3DSH6, P15036, Q53Y89

UniProtKB/TrEMBL

A0A590UJP9

Related

ENSP00000354194.3, ENST00000360938.8

Conserved Domains (2) summary

cd08543
Location:85 → 173

SAM_PNT-ETS-2; Sterile alpha motif (SAM)/Pointed domain of ETS-2

smart00413
Location:362 → 446

ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

38805183..38824955

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005260935.2 → XP_005260992.1 protein C-ets-2 isoform X1

See identical proteins and their annotated locations for XP_005260992.1

UniProtKB/Swiss-Prot

A6NM68, D3DSH6, P15036, Q53Y89

UniProtKB/TrEMBL

A0A590UJP9

Conserved Domains (2) summary

cd08543
Location:85 → 173

SAM_PNT-ETS-2; Sterile alpha motif (SAM)/Pointed domain of ETS-2

smart00413
Location:362 → 446

ETS; erythroblast transformation specific domain
XM_017028290.2 → XP_016883779.1 protein C-ets-2 isoform X1

UniProtKB/Swiss-Prot

A6NM68, D3DSH6, P15036, Q53Y89

UniProtKB/TrEMBL

A0A590UJP9

Conserved Domains (2) summary

cd08543
Location:85 → 173

SAM_PNT-ETS-2; Sterile alpha motif (SAM)/Pointed domain of ETS-2

smart00413
Location:362 → 446

ETS; erythroblast transformation specific domain