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ERG ETS transcription factor ERG [ Homo sapiens (human) ]

Gene ID: 2078, updated on 9-Sep-2018

Summary

Official Symbol
ERGprovided by HGNC
Official Full Name
ETS transcription factor ERGprovided by HGNC
Primary source
HGNC:HGNC:3446
See related
Ensembl:ENSG00000157554 MIM:165080; Vega:OTTHUMG00000090767
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
p55; erg-3
Summary
This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]
Expression
Broad expression in fat (RPKM 7.8), spleen (RPKM 6.9) and 23 other tissues See more
Orthologs

Genomic context

See ERG in Genome Data Viewer
Location:
21q22.2
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (38367261..38661780, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (39739183..40033704, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1423 Neighboring gene uncharacterized LOC107985513 Neighboring gene ERG, ETS transcription factor breakpoint cluster recombination region Neighboring gene uncharacterized LOC105372802 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 13 Neighboring gene long intergenic non-protein coding RNA 114 Neighboring gene uncharacterized LOC107985480

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
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog
Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.
NHGRI GWA Catalog
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
NHGRI GWA Catalog
Results of a "GWAS Plus:" General Cognitive Ability Is Substantially Heritable and Massively Polygenic.
NHGRI GWA Catalog

Pathways from BioSystems

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 
cell migration IEA
Inferred from Electronic Annotation
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
endocardial cushion development IEA
Inferred from Electronic Annotation
more info
 
endocardial cushion to mesenchymal transition involved in heart valve formation IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transcriptional regulator ERG
Names
ERG, ETS transcription factor
FUS/ERG fusion protein
TMPRSS2/ERG fusion
erythroblast transformation-specific transcription factor ERG variant 10
ets-related
transcriptional regulator ERG (transforming protein ERG)
v-ets avian erythroblastosis virus E26 oncogene homolog
v-ets avian erythroblastosis virus E26 oncogene related
v-ets erythroblastosis virus E26 oncogene homolog
v-ets erythroblastosis virus E26 oncogene like

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_029732.1 RefSeqGene

    Range
    5001..286756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136154.1NP_001129626.1  transcriptional regulator ERG isoform 3

    See identical proteins and their annotated locations for NP_001129626.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) and variant 5 encode the longest protein (isoform 3).
    Source sequence(s)
    AK297807, AP001422, AP001423, AY204741, BF431907
    Consensus CDS
    CCDS46648.1
    UniProtKB/Swiss-Prot
    P11308
    UniProtKB/TrEMBL
    B4DN83
    Related
    ENSP00000414150.2, OTTHUMP00000115967, ENST00000417133.6, OTTHUMT00000207532
    Conserved Domains (2) summary
    cd08540
    Location:134208
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    smart00413
    Location:317400
    ETS; erythroblast transformation specific domain
  2. NM_001136155.1NP_001129627.1  transcriptional regulator ERG isoform 4

    See identical proteins and their annotated locations for NP_001129627.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains a different segment for its 5' UTR and lacks an internal coding segment which results in the use of a downstream start codon, compared to variant 3. The resulting protein (isoform 4) has a shorter N-terminus when it is compared to isoform 3.
    Source sequence(s)
    AK303518, AP001422, AP001423, BF431907, DA850637, DC394344
    Consensus CDS
    CCDS46649.1
    UniProtKB/Swiss-Prot
    P11308
    UniProtKB/TrEMBL
    A0A0C4DG41
    Related
    ENSP00000396268.2, OTTHUMP00000225518, ENST00000453032.6, OTTHUMT00000376660
    Conserved Domains (2) summary
    cd08540
    Location:35109
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    smart00413
    Location:218301
    ETS; erythroblast transformation specific domain
  3. NM_001243428.1NP_001230357.1  transcriptional regulator ERG isoform 3

    See identical proteins and their annotated locations for NP_001230357.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 3. Variants 3 and 5 encode the same protein (isoform 3).
    Source sequence(s)
    AA706319, AK301277, AK309469, AP001422, AP001423, BC040168
    Consensus CDS
    CCDS46648.1
    UniProtKB/Swiss-Prot
    P11308
    UniProtKB/TrEMBL
    B4DVX5
    Related
    ENSP00000381891.2, OTTHUMP00000208036, ENST00000398919.6, OTTHUMT00000340206
    Conserved Domains (2) summary
    cd08540
    Location:134208
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    smart00413
    Location:317400
    ETS; erythroblast transformation specific domain
  4. NM_001243429.1NP_001230358.1  transcriptional regulator ERG isoform 5

    See identical proteins and their annotated locations for NP_001230358.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two internal coding exons, compared to variant 3. The resulting protein (isoform 5) is shorter at the N-terminus and lacks an internal segment when it is compared to isoform 3.
    Source sequence(s)
    AA706319, AH001456, AP001422, AP001423, R82102
    Consensus CDS
    CCDS58789.1
    UniProtKB/Swiss-Prot
    P11308
    Related
    ENSP00000381871.1, OTTHUMP00000115968, ENST00000398897.5, OTTHUMT00000207534
    Conserved Domains (2) summary
    cd08540
    Location:35109
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    smart00413
    Location:194277
    ETS; erythroblast transformation specific domain
  5. NM_001243432.2NP_001230361.1  transcriptional regulator ERG isoform 6

    See identical proteins and their annotated locations for NP_001230361.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 3' exon, compared to variant 3. The resulting protein (isoform 6) has a shorter and distinct C-terminus, when it is compared to isoform 3.
    Source sequence(s)
    AY204741, DC356222
    UniProtKB/Swiss-Prot
    P11308
    Conserved Domains (1) summary
    cd08540
    Location:134208
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
  6. NM_001291391.1NP_001278320.1  transcriptional regulator ERG isoform 7

    See identical proteins and their annotated locations for NP_001278320.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) ) lacks several exons and its transcription extends past a splice site that is used in variant 3, resulting in a novel 3' coding region and 3' UTR compared to variant 3. The resulting protein (isoform 7) has a shorter and distinct C-terminus, compared to isoform 3.
    Source sequence(s)
    AY204742, DC356222
    UniProtKB/Swiss-Prot
    P11308
    Conserved Domains (1) summary
    cd08540
    Location:134208
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
  7. NM_001331025.1NP_001317954.1  transcriptional regulator ERG isoform 8

    Status: REVIEWED

    Source sequence(s)
    AA706319, AP001037, AP001422, AP001423, AP001426
    Consensus CDS
    CCDS82674.1
    UniProtKB/TrEMBL
    B5MDW0
    Related
    ENSP00000381877.1, ENST00000398905.5
    Conserved Domains (2) summary
    cd08540
    Location:127201
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    smart00413
    Location:286369
    ETS; erythroblast transformation specific domain
  8. NM_004449.4NP_004440.1  transcriptional regulator ERG isoform 2

    See identical proteins and their annotated locations for NP_004440.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 3. The resulting protein (isoform 2) is shorter when it is compared to isoform 3.
    Source sequence(s)
    AK297807, AP001422, AP001423, AY204741, BF431907
    Consensus CDS
    CCDS13657.1
    UniProtKB/Swiss-Prot
    P11308
    UniProtKB/TrEMBL
    B4DN83
    Related
    ENSP00000394694.1, ENST00000442448.5
    Conserved Domains (2) summary
    cd08540
    Location:134208
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    smart00413
    Location:293376
    ETS; erythroblast transformation specific domain
  9. NM_182918.3NP_891548.1  transcriptional regulator ERG isoform 1

    See identical proteins and their annotated locations for NP_891548.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains a different segment for its 5' UTR and 5' coding region, compared to variant 3. The resulting protein (isoform 1) has a shorter and distinct N-terminus when it is compared to isoform 3.
    Source sequence(s)
    AK300395, AP001422, AP001423, BC040168, BF431907, DA850637, DC394344
    Consensus CDS
    CCDS13658.1
    UniProtKB/Swiss-Prot
    P11308
    Related
    ENSP00000288319.7, OTTHUMP00000115966, ENST00000288319.11, OTTHUMT00000207531
    Conserved Domains (2) summary
    cd08540
    Location:127201
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    smart00413
    Location:310393
    ETS; erythroblast transformation specific domain

RNA

  1. NR_111949.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9, also known as ERG6) lacks multiple exons and has an alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AP001426, AY204740, DC356222
    Related
    ENST00000485493.1

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_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    38367261..38661780 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001243433.1: Suppressed sequence

    Description
    NM_001243433.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
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