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    EPGN epithelial mitogen [ Homo sapiens (human) ]

    Gene ID: 255324, updated on 12-Sep-2024

    Summary

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    Official Symbol
    EPGNprovided by HGNC
    Official Full Name
    epithelial mitogenprovided by HGNC
    Primary source
    HGNC:HGNC:17470
    See related
    Ensembl:ENSG00000182585 MIM:618717; AllianceGenome:HGNC:17470
    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
    EPG; PRO9904; ALGV3072
    Summary
    The protein encoded by this gene is a member of the epidermal growth factor family. Members of this family are ligands for the epidermal growth factor receptor and play a role in cell survival, proliferation and migration. This protein has been reported to have high mitogenic activity but low affinity for its receptor. Expression of this transcript and protein have been reported in cancer specimens of the breast, bladder, and prostate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
    Expression
    Restricted expression toward esophagus (RPKM 11.2) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (74308470..74316789)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (77652095..77660414)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (75174187..75182506)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1179 Neighboring gene Sharpr-MPRA regulatory region 14567 Neighboring gene uncharacterized LOC105377277 Neighboring gene C-X-C motif chemokine ligand 2 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:75022974-75023732 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:75023733-75024489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21614 Neighboring gene Sharpr-MPRA regulatory region 11080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15477 Neighboring gene uncharacterized LOC105377276 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1828 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:75239895-75241094 Neighboring gene epiregulin Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:75278865-75279391 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:75279392-75279917 Neighboring gene MPRA-validated peak5058 silencer Neighboring gene amphiregulin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. EGFR ligands exhibit functional differences in models of paracrine and autocrine signaling. Wilson KJ, et al. Growth Factors, 2012 Apr. PMID 22260327, Free PMC Article
    2. Autocrine epidermal growth factor receptor ligand production and cetuximab response in head and neck squamous cell carcinoma cell lines. Oshima G, et al. J Cancer Res Clin Oncol, 2012 Mar. PMID 22193422
    3. The complete family of epidermal growth factor receptors and their ligands are co-ordinately expressed in breast cancer. McIntyre E, et al. Breast Cancer Res Treat, 2010 Jul. PMID 19760033
    4. Training and utilization of auxiliary personnel for rural health teams in developing countries. Report of a WHO Expert Committee. . World Health Organ Tech Rep Ser, 1979. PMID 112783
    5. Amphiregulin exosomes increase cancer cell invasion. Higginbotham JN, et al. Curr Biol, 2011 May 10. PMID 21514161, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study shows how the EGFR ligands epiregulin (EREG) and epigen (EPGN) stabilize different dimeric conformations of the EGFR extracellular region. Results reveal how responses to different EGFR ligands are defined by receptor dimerization strength and signaling dynamics. These findings have broad implications for understanding receptor tyrosine kinase (RTK) signaling specificity.
      Title: EGFR Ligands Differentially Stabilize Receptor Dimers to Specify Signaling Kinetics.
    2. cloning of a related gene in mouse
      Title: Training and utilization of auxiliary personnel for rural health teams in developing countries. Report of a WHO Expert Committee.
    3. EPG is an EGF-like growth factor and a low affinity ligand
      Title: Epigen, the last ligand of ErbB receptors, reveals intricate relationships between affinity and mitogenicity.
    Submit: New GeneRIF Correction

    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
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ75542

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables epidermal growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables epidermal growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables growth factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane receptor protein tyrosine kinase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epidermal growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of positive regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of mitotic nuclear division IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    epigen
    Names
    epithelial mitogen homolog

    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)

    1. NM_001013442.2 → NP_001013460.1  epigen isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC097470
      Consensus CDS
      CCDS34010.1
      UniProtKB/TrEMBL
      H3BM13
      Related
      ENSP00000330375.4, ENST00000332112.8

    2. NM_001270989.2 → NP_001257918.1  epigen isoform 1 precursor

      See identical proteins and their annotated locations for NP_001257918.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC097470, AK289455, CB150835
      Consensus CDS
      CCDS59478.1
      UniProtKB/Swiss-Prot
      A1BMM3, A1BMM4, A1BMM5, A1BMM6, A1BMM7, A1BMM8, A8K090, Q6UW88
      UniProtKB/TrEMBL
      H3BM13
      Related
      ENSP00000411898.1, ENST00000413830.6
      Conserved Domains (1) summary
      PHA02887
      Location:60 → 100
      PHA02887; EGF-like protein; Provisional

    3. NM_001270990.2 → NP_001257919.1  epigen isoform 2 precursor

      See identical proteins and their annotated locations for NP_001257919.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. It encodes isoform 2 (also known as isoform B) which is shorter than isoform 1.
      Source sequence(s)
      AC097470, CB150835, DQ235264
      Consensus CDS
      CCDS59477.1
      UniProtKB/TrEMBL
      A0PK19
      Related
      ENSP00000425890.1, ENST00000503098.5
      Conserved Domains (1) summary
      PHA02887
      Location:60 → 95
      PHA02887; EGF-like protein; Provisional

    4. NM_001270991.2 → NP_001257920.1  epigen isoform 3 precursor

      See identical proteins and their annotated locations for NP_001257920.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses alternate in-frame splice sites in two exons in the coding region compared to variant 1. It encodes isoform 3 (also known as isoform F) which is shorter than isoform 1.
      Source sequence(s)
      AC097470, CB150835, DQ235264, DQ235268
      Consensus CDS
      CCDS59475.1
      UniProtKB/TrEMBL
      A0PK19
      Related
      ENSP00000426550.1, ENST00000514968.5
      Conserved Domains (2) summary
      PHA02887
      Location:51 → 86
      PHA02887; EGF-like protein; Provisional
      PHA03099
      Location:11 → 86
      PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

    5. NM_001270992.2 → NP_001257921.1  epigen isoform 4 precursor

      See identical proteins and their annotated locations for NP_001257921.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 4 (also known as isoform E) which is shorter than isoform 1.
      Source sequence(s)
      AC097470, CB150835, DQ235267
      Consensus CDS
      CCDS59479.1
      UniProtKB/TrEMBL
      A0PK19
      Related
      ENSP00000426678.1, ENST00000502358.5

    6. NM_001270993.2 → NP_001257922.1  epigen isoform 5 precursor

      See identical proteins and their annotated locations for NP_001257922.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 5 (also known as isoform G) which is shorter than isoform 1.
      Source sequence(s)
      AC097470, CB150835, DQ235265
      Consensus CDS
      CCDS59476.1
      UniProtKB/TrEMBL
      A0PK19
      Related
      ENSP00000424392.1, ENST00000505212.5

    RNA

    1. NR_073114.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site and an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC097470, BC127938, CB150835

    2. NR_073117.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two alternate internal exons compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AC097470, CB150835, DQ235266

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      74308470..74316789
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531817.4 → XP_011530119.1  epigen isoform X1

      See identical proteins and their annotated locations for XP_011530119.1

      UniProtKB/TrEMBL
      H3BM13
      Related
      ENSP00000398415.2, ENST00000446430.2
      Conserved Domains (2) summary
      PHA02887
      Location:51 → 91
      PHA02887; EGF-like protein; Provisional
      PHA03099
      Location:11 → 94
      PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      77652095..77660414
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349535.1 → XP_054205510.1  epigen isoform X1

      UniProtKB/TrEMBL
      H3BM13
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UW88.2 GenPept UniProtKB/Swiss-Prot:Q6UW88

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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