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

    Gene ID: 2078, updated on 29-Jun-2024

    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; AllianceGenome:HGNC:3446
    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; LMPHM14
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ERG in Genome Data Viewer
    Location:
    21q22.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (38367261..38661783, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (36750675..37045540, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (39739183..40033707, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:39704626-39705825 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62068 Neighboring gene long intergenic non-protein coding RNA 1423 Neighboring gene uncharacterized LOC107985513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39810939-39811438 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:39820334-39821010 Neighboring gene ERG, ETS transcription factor breakpoint cluster recombination region Neighboring gene Sharpr-MPRA regulatory region 14119 Neighboring gene uncharacterized LOC105372802 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr21:39879001-39879501 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 13 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:40051342-40052541 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:40055463-40056662 Neighboring gene long intergenic non-protein coding RNA 114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18458 Neighboring gene uncharacterized LOC107985480 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:40159061-40160260

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Lymphatic malformation 14
    MedGen: C5882718 OMIM: 620602 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of 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
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of 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
    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)

    NEW Try the new Transcript table

    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_029732.2 RefSeqGene

      Range
      168306..286747
      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/TrEMBL
      B4DN83
      Related
      ENSP00000414150.2, ENST00000417133.6
      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/TrEMBL
      A0A0C4DG41, B4DVX5
      Related
      ENSP00000396268.2, ENST00000453032.6
      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/TrEMBL
      B4DN83
      Related
      ENSP00000381891.2, ENST00000398919.6
      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/TrEMBL
      B4DVX5
      Related
      ENSP00000381871.1, ENST00000398897.5
      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
      Related
      ENST00000468474.5
      Conserved Domains (1) summary
      cd08540
      Location:134208
      SAM_PNT-ERG; Sterile alpha motif (SAM)/Pointed domain of ERG transcription factor
    7. NM_001331025.2NP_001317954.1  transcriptional regulator ERG isoform 8

      Status: REVIEWED

      Source sequence(s)
      AA706319, AP001037, AP001422, AP001423, AP001426
      Consensus CDS
      CCDS82674.1
      UniProtKB/TrEMBL
      A8MX39, 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/TrEMBL
      A8MZ24
      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_182918.4NP_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
      Consensus CDS
      CCDS13658.1
      UniProtKB/Swiss-Prot
      B4DTW5, B4E0T4, P11308, Q16113, Q6XXX4, Q6XXX5, Q8IXK9
      UniProtKB/TrEMBL
      B4DN83
      Related
      ENSP00000288319.7, ENST00000288319.12
      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_111949.2 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)
      AP001038, AP001426, AY204740, DC356222
      Related
      ENST00000485493.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      38367261..38661783 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      36750675..37045540 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.