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EPGN epithelial mitogen [ Homo sapiens (human) ]

Gene ID: 255324, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (74308470..74316789)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (77652095..77660414)
105.20220307 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
  • 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)

Genotypes

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 IDA
Inferred from Direct Assay
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 positive regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of positive regulation of MAP kinase activity 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 epidermal growth factor-activated receptor activity 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_2023_10

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

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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