AREG
amphiregulin, the group of Receptor ligands
Basic information
Region (hg38): 4:74445136-74455005
Previous symbols: [ "SDGF", "AREGB" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AREG 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 AREG
This is a list of pathogenic ClinVar variants found in the AREG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-74445352-G-C | not specified | Uncertain significance (Mar 20, 2023) | ||
| 4-74446570-A-G | Benign (Jul 04, 2018) | |||
| 4-74446702-C-T | not specified | Uncertain significance (Nov 10, 2022) | ||
| 4-74446736-T-A | not specified | Uncertain significance (Mar 15, 2024) | ||
| 4-74446741-A-T | not specified | Uncertain significance (Apr 06, 2024) | ||
| 4-74446767-G-A | not specified | Uncertain significance (Oct 27, 2023) | ||
| 4-74449103-A-G | not specified | Uncertain significance (May 04, 2022) | ||
| 4-74449169-C-T | not specified | Uncertain significance (May 18, 2023) | ||
| 4-74449205-G-A | not specified | Uncertain significance (Jan 04, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AREG | protein_coding | protein_coding | ENST00000395748 | 5 | 9876 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.471 | 0.508 | 119459 | 0 | 1 | 119460 | 0.00000419 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.806 | 56 | 75.8 | 0.739 | 0.00000385 | 1622 |
| Missense in Polyphen | 15 | 18.136 | 0.82707 | 477 | ||
| Synonymous | 0.806 | 26 | 31.8 | 0.818 | 0.00000184 | 467 |
| Loss of Function | 1.84 | 1 | 5.76 | 0.174 | 2.39e-7 | 167 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000485 | 0.0000486 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Ligand of the EGF receptor/EGFR. Autocrine growth factor as well as a mitogen for a broad range of target cells including astrocytes, Schwann cells and fibroblasts.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;EGF-Core;Follicle Stimulating Hormone (FSH) signaling pathway;NLR Proteins;Development and heterogeneity of the ILC family;ErbB Signaling Pathway;Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;Cargo concentration in the ER;GPCR signaling-G alpha s PKA and ERK;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation;GPCR signaling-G alpha i;COPII-mediated vesicle transport;ER to Golgi Anterograde Transport;ErbB receptor signaling network
(Consensus)
Recessive Scores
- pRec
- 0.103
Haploinsufficiency Scores
- pHI
- 0.202
- hipred
- N
- hipred_score
- 0.318
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.730
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Areg
- Phenotype
- endocrine/exocrine gland 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); growth/size/body region phenotype; homeostasis/metabolism phenotype; immune system phenotype; reproductive system phenotype; hematopoietic system phenotype; vision/eye phenotype; digestive/alimentary phenotype;
Gene ontology
- Biological process
- endoplasmic reticulum to Golgi vesicle-mediated transport;epidermal growth factor receptor signaling pathway;G protein-coupled receptor signaling pathway;cell-cell signaling;cell population proliferation;positive regulation of cell population proliferation;regulation of signaling receptor activity;glial cell proliferation;neuron projection development;response to estradiol;response to hydrogen peroxide;response to peptide hormone;negative regulation of osteoblast differentiation;COPII vesicle coating;positive regulation of peptidyl-tyrosine phosphorylation;response to glucocorticoid;response to cAMP;dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis;mammary gland branching involved in thelarche;mammary gland alveolus development;epithelial cell proliferation involved in mammary gland duct elongation
- Cellular component
- Golgi membrane;extracellular space;nucleus;endoplasmic reticulum membrane;cell surface;ER to Golgi transport vesicle membrane;integral component of membrane;endoplasmic reticulum-Golgi intermediate compartment membrane
- Molecular function
- cytokine activity;epidermal growth factor receptor binding;protein binding;growth factor activity