EREG
epiregulin
Basic information
Region (hg38): 4:74365144-74388749
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (6 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the EREG gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 7 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 0 | |||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 6 | 0 | 1 |
Variants in EREG
This is a list of pathogenic ClinVar variants found in the EREG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-74379468-G-A | not specified | Uncertain significance (Dec 21, 2023) | ||
| 4-74381026-A-G | not specified | Uncertain significance (May 31, 2022) | ||
| 4-74381035-G-A | not specified | Uncertain significance (Nov 30, 2022) | ||
| 4-74381045-A-T | not specified | Uncertain significance (Aug 16, 2021) | ||
| 4-74382712-A-G | not specified | Uncertain significance (Apr 06, 2022) | ||
| 4-74382713-A-G | not specified | Uncertain significance (Feb 06, 2023) | ||
| 4-74384738-G-A | Benign (Feb 20, 2018) | |||
| 4-74384798-C-T | not specified | Uncertain significance (Aug 22, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| EREG | protein_coding | protein_coding | ENST00000244869 | 5 | 23609 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000117 | 0.381 | 125714 | 0 | 20 | 125734 | 0.0000795 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.368 | 104 | 94.0 | 1.11 | 0.00000474 | 1092 |
| Missense in Polyphen | 24 | 23.782 | 1.0092 | 259 | ||
| Synonymous | -0.618 | 40 | 35.3 | 1.13 | 0.00000184 | 321 |
| Loss of Function | 0.319 | 8 | 9.03 | 0.886 | 4.65e-7 | 109 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000909 | 0.0000909 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000545 | 0.000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000358 | 0.0000352 |
| Middle Eastern | 0.000545 | 0.000544 |
| South Asian | 0.0000981 | 0.0000980 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Ligand of the EGF receptor/EGFR and ERBB4. Stimulates EGFR and ERBB4 tyrosine phosphorylation (PubMed:9419975). Contributes to inflammation, wound healing, tissue repair, and oocyte maturation by regulating angiogenesis and vascular remodeling and by stimulating cell proliferation (PubMed:24631357). {ECO:0000269|PubMed:9419975, ECO:0000303|PubMed:24631357}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;ErbB Signaling Pathway;SHC1 events in ERBB2 signaling;Signaling by PTK6;Disease;Signal Transduction;ERBB2 Activates PTK6 Signaling;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;Downregulation of ERBB2 signaling;GPCR signaling-G alpha s PKA and ERK;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;PIP3 activates AKT signaling;GRB2 events in ERBB2 signaling;Signaling by Non-Receptor Tyrosine Kinases;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Constitutive Signaling by Aberrant PI3K in Cancer;PI3K events in ERBB2 signaling;Signaling by ERBB2;ERBB2 Regulates Cell Motility;SHC1 events in ERBB4 signaling;PI3K/AKT Signaling in Cancer;PI3K events in ERBB4 signaling;GPCR signaling-G alpha i;Nuclear signaling by ERBB4;Signaling by ERBB4;Signaling by Receptor Tyrosine Kinases;Intracellular signaling by second messengers;Diseases of signal transduction;ErbB receptor signaling network
(Consensus)
Recessive Scores
- pRec
- 0.431
Intolerance Scores
- loftool
- 0.747
- rvis_EVS
- 0.1
- rvis_percentile_EVS
- 61.49
Haploinsufficiency Scores
- pHI
- 0.359
- hipred
- N
- hipred_score
- 0.415
- ghis
- 0.457
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.790
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ereg
- Phenotype
- homeostasis/metabolism phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); normal phenotype; neoplasm; digestive/alimentary phenotype; vision/eye phenotype; immune system phenotype;
Gene ontology
- Biological process
- MAPK cascade;angiogenesis;ovarian cumulus expansion;oocyte maturation;positive regulation of cytokine production;female meiotic nuclear division;epidermal growth factor receptor signaling pathway;cell-cell signaling;positive regulation of cell population proliferation;negative regulation of cell population proliferation;mRNA transcription;anatomical structure morphogenesis;animal organ morphogenesis;peptidyl-tyrosine phosphorylation;cytokine-mediated signaling pathway;keratinocyte differentiation;ovulation;ERBB2 signaling pathway;wound healing;positive regulation of cytokine biosynthetic process;positive regulation of phosphorylation;luteinizing hormone signaling pathway;response to peptide hormone;keratinocyte proliferation;positive regulation of innate immune response;positive regulation of interleukin-6 biosynthetic process;positive regulation of DNA replication;positive regulation of epidermal growth factor-activated receptor activity;positive regulation of mitotic nuclear division;positive regulation of protein kinase activity;negative regulation of transcription, DNA-templated;phosphatidylinositol phosphorylation;positive regulation of fibroblast proliferation;primary follicle stage;positive regulation of smooth muscle cell proliferation;negative regulation of epithelial cell proliferation;negative regulation of smooth muscle cell differentiation;positive regulation of cell division;positive regulation of protein kinase B signaling;regulation of cell motility
- Cellular component
- extracellular region;extracellular space;integral component of plasma membrane
- Molecular function
- protein tyrosine kinase activity;Ras guanyl-nucleotide exchange factor activity;epidermal growth factor receptor binding;protein binding;growth factor activity;phosphatidylinositol-4,5-bisphosphate 3-kinase activity