Display Settings:

Format

Send to:

Choose Destination

ERG v-ets avian erythroblastosis virus E26 oncogene homolog [ Homo sapiens (human) ]

Gene ID: 2078, updated on 26-Aug-2014
Official Symbol
ERGprovided by HGNC
Official Full Name
v-ets avian erythroblastosis virus E26 oncogene homologprovided by HGNC
Primary source
HGNC:3446
See related
Ensembl:ENSG00000157554; HPRD:01298; 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]
Location:
21q22.3
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 spermatogenesis associated 20 pseudogene 1 Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 15 Neighboring gene long intergenic non-protein coding RNA 1423 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 13 Neighboring gene long intergenic non-protein coding RNA 114 Neighboring gene v-ets avian erythroblastosis virus E26 oncogene homolog 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding RNA polymerase II transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
signal transducer activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
multicellular organismal development TAS
Traceable Author Statement
more info
PubMed 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transcriptional regulator ERG
Names
transcriptional regulator ERG
ets-related
TMPRSS2/ERG fusion
v-ets erythroblastosis virus E26 oncogene like
v-ets erythroblastosis virus E26 oncogene homolog
v-ets avian erythroblastosis virus E26 oncogene related
transcriptional regulator ERG (transforming protein ERG)

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 

    Range
    5001..299522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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/TrEMBL
    B4DN83
    UniProtKB/Swiss-Prot
    P11308
    Related
    ENSP00000414150, OTTHUMP00000115967, ENST00000417133, OTTHUMT00000207532
    Conserved Domains (2) summary
    cd08540
    Location:134208
    Blast Score: 437
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    pfam00178
    Location:317400
    Blast Score: 443
    Ets; Ets-domain
  2. NM_001136155.1NP_001129627.1  transcriptional regulator ERG isoform 4

    See proteins identical to 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
    Conserved Domains (2) summary
    cd08540
    Location:35109
    Blast Score: 432
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    pfam00178
    Location:218301
    Blast Score: 443
    Ets; Ets-domain
  3. NM_001243428.1NP_001230357.1  transcriptional regulator ERG isoform 3

    See proteins identical to 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/TrEMBL
    B4DVX5
    UniProtKB/Swiss-Prot
    P11308
    Conserved Domains (2) summary
    cd08540
    Location:134208
    Blast Score: 437
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    pfam00178
    Location:317400
    Blast Score: 443
    Ets; Ets-domain
  4. NM_001243429.1NP_001230358.1  transcriptional regulator ERG isoform 5

    See proteins identical to 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, OTTHUMP00000115968, ENST00000398897, OTTHUMT00000207534
    Conserved Domains (2) summary
    cd08540
    Location:35109
    Blast Score: 429
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    pfam00178
    Location:194277
    Blast Score: 443
    Ets; Ets-domain
  5. NM_001243432.2NP_001230361.1  transcriptional regulator ERG isoform 6

    See proteins identical to 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
    Blast Score: 435
    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 proteins identical to 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
    Blast Score: 441
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
  7. NM_004449.4NP_004440.1  transcriptional regulator ERG isoform 2

    See proteins identical to 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/TrEMBL
    B4DN83
    UniProtKB/Swiss-Prot
    P11308
    Related
    ENSP00000394694, ENST00000442448
    Conserved Domains (2) summary
    cd08540
    Location:134208
    Blast Score: 435
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    pfam00178
    Location:293376
    Blast Score: 443
    Ets; Ets-domain
  8. NM_182918.3NP_891548.1  transcriptional regulator ERG isoform 1

    See proteins identical to 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, OTTHUMP00000115966, ENST00000288319, OTTHUMT00000207531
    Conserved Domains (2) summary
    cd08540
    Location:127201
    Blast Score: 438
    SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    pfam00178
    Location:310393
    Blast Score: 443
    Ets; Ets-domain

RNA

  1. NR_111949.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000021.9 

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

Alternate HuRef

Genomic

  1. AC_000153.1 

    Range
    25208970..25503512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 

    Range
    39299733..39594417
    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.