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
110	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (38805183..38824955)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (37188977..37208712)
105.20220307	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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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
DeltaNp73/ETS2 complex drives glioblastoma pathogenesis- targeting downstream mediators by rebastinib prolongs survival in preclinical models of glioblastoma.
Title: ΔNp73/ETS2 complex drives glioblastoma pathogenesis- targeting downstream mediators by rebastinib prolongs survival in preclinical models of glioblastoma.
RNA-binding protein CELF1 enhances cell migration, invasion, and chemoresistance by targeting ETS2 in colorectal cancer.
Title: RNA-binding protein CELF1 enhances cell migration, invasion, and chemoresistance by targeting ETS2 in colorectal cancer.
Exosomal miR-663b targets Ets2-repressor factor to promote proliferation and the epithelial-mesenchymal transition of bladder cancer cells.
Title: Exosomal miR-663b targets Ets2-repressor factor to promote proliferation and the epithelial-mesenchymal transition of bladder cancer cells.
Association of Cyclin Dependent Kinase 10 and Transcription Factor 2 during Human Corneal Epithelial Wound Healing in vitro model.
Title: Association of Cyclin Dependent Kinase 10 and Transcription Factor 2 during Human Corneal Epithelial Wound Healing in vitro model.
ETS2 promotes epithelial-to-mesenchymal transition in renal fibrosis by targeting JUNB transcription.
Title: ETS2 promotes epithelial-to-mesenchymal transition in renal fibrosis by targeting JUNB transcription.
Protein C-ets-2 epigenetically suppresses TLRs-induced interleukin 6 production in macrophages.
Title: Protein C-ets-2 epigenetically suppresses TLRs-induced interleukin 6 production in macrophages.
ETS2 is highly expressed in p63-expressing prostatic carcinomas and benign prostate basal cells, with lower expression in luminal cells and primary usual-type adenocarcinomas.
Title: ETS2 is a prostate basal cell marker and is highly expressed in prostate cancers aberrantly expressing p63.

Submit: New GeneRIF Correction See all GeneRIFs (82)

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

Homology

Homologs of the ETS2 gene: The ETS2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 384 organisms have orthologs with human gene ETS2
Orthologs

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	PubMed
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 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	PubMed
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	PubMed
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	PubMed
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

P15036, Q53Y89

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: Homo sapiens Annotation Release 110 details...

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

P15036, Q53Y89

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

P15036, Q53Y89

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