Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 2078, updated on 19-Nov-2017
    Official Symbol
    ERGprovided by HGNC
    Official Full Name
    ERG, ETS transcription factorprovided 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]
    Orthologs
    Location:
    21q22.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (38367261..38662045, 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 uncharacterized LOC107985496 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

    • 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

    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
    Results of a "GWAS Plus:" General Cognitive Ability Is Substantially Heritable and Massively Polygenic.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    transcriptional regulator ERG
    Names
    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

    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
      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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

      Range
      38367261..38662045 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028287.1XP_016883776.1  transcriptional regulator ERG isoform X1

    2. XM_011529486.2XP_011527788.1  transcriptional regulator ERG isoform X3

      See identical proteins and their annotated locations for XP_011527788.1

      Conserved Domains (2) summary
      smart00413
      Location:266349
      ETS; erythroblast transformation specific domain
      cl15755
      Location:122205
      SAM_superfamily; SAM (Sterile alpha motif )
    3. XM_017028289.1XP_016883778.1  transcriptional regulator ERG isoform X4

    4. XM_017028288.1XP_016883777.1  transcriptional regulator ERG isoform X2

      Related
      ENSP00000381877.1, OTTHUMP00000115969, ENST00000398905.5, OTTHUMT00000207535
      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
    5. XM_011529487.2XP_011527789.1  transcriptional regulator ERG isoform X5

      Related
      ENSP00000415659.3, ENST00000429727.6
      Conserved Domains (1) summary
      cd08540
      Location:134208
      SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      39299733..39594417 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.
    Support Center