EPGN epithelial mitogen [Homo sapiens (human)] - Gene

Summary

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

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-50860 (e-PCR)
- UniSTS:19234

D10S16 (e-PCR)
- UniSTS:155756

SHGC-8120 (e-PCR)
- UniSTS:59357

D22S958 (e-PCR)
- UniSTS:259319

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)

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
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
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
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
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
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

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
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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

74308470..74316789

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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