AREG
protein-codingamphiregulin, the group of Receptor ligands
Gene summary
The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014]
- SDGF
- AREGB
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~9.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to AREG variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001657.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 21 | 1 | 22 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 21 | 0 | 1 | 22 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001648.1 | 5 | MANE Select | |
| Ensembl | ENSP00000379097.3 | 5 | MANE Select | |
| Ensembl | ENSP00000421414.1 | 5 | Standard | |
| Ensembl | ENSP00000421414.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- 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)
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
Molecular Function
- cytokine activity
- epidermal growth factor receptor binding
- protein binding
- growth factor activity
Cellular Component
- Golgi membrane
- extracellular space
- nucleus
- endoplasmic reticulum membrane
- cell surface
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000395748
- Coding exons
- 5
- Length
- 9876
- Individuals with no LoFs
- 119459
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 119460
- p
- 0.00000419
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.806 | 56 | 75.8 | 0.739 | 0.00000385 | 1622 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.000049 | 0.000049 | rare |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
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.;
Recessive Scores
- pRec
- 0.103
Essentials
- Essential (CRISPR)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.730
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |