AHR (Aryl Hydrocarbon Receptor) Gene
A key regulator of xenobiotic metabolism, immune response, and cellular homeostasis
Gene Information Card
| Symbol | AHR |
|---|---|
| Full Name | Aryl Hydrocarbon Receptor |
| Gene Type | Protein coding |
| Chromosomal Location | 7p21.1 |
| NCBI Gene ID | 196 ncbi.nlm.nih.gov/gene/196 |
| Ensembl ID | ENSG00000106546 |
| UniProt ID | P35869 |
| OMIM ID | 600253 |
| HGNC ID | 348 |
| Aliases | bHLHe76, AH receptor, dioxin receptor |
Description
The AHR gene encodes the aryl hydrocarbon receptor, a ligand-activated transcription factor belonging to the basic helix-loop-helix/Per-ARNT-Sim (bHLH/PAS) family. It mediates the cellular response to environmental toxins such as dioxins and polycyclic aromatic hydrocarbons, and regulates genes involved in xenobiotic metabolism (e.g., CYP1A1, CYP1B1). Beyond detoxification, AHR plays critical roles in immune regulation, cell cycle control, stem cell maintenance, and tumor suppression or promotion depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | AHR activation by exogenous ligands induces CYP1A1/CYP1B1 expression, leading to estrogen metabolism and potential genotoxicity; polymorphisms associated with altered risk | PMID: 23512248; ClinVar |
| Endometriosis | AHR signaling modulates inflammatory and estrogenic pathways; certain AHR polymorphisms linked to increased susceptibility | PMID: 20041263; OMIM |
| Atherosclerosis | AHR activation in vascular cells promotes pro-inflammatory cytokine production and oxidative stress | PMID: 21321048; NCBI Gene |
| Type 2 diabetes | AHR activation impairs insulin signaling and pancreatic beta-cell function via induction of inflammatory mediators | PMID: 26030149; ClinVar |
| Cutaneous T-cell lymphoma | Constitutive AHR activation in malignant T cells drives proliferation and immune evasion | PMID: 31004063; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Placenta | 15.1 | Medium |
| Spleen | 6.7 | Low |
| Thymus | 9.4 | Medium |
| Kidney | 7.2 | Low |
| Heart | 4.1 | Low |
| Brain | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.2 | Hepatocellular carcinoma; high expression |
| A549 | 10.5 | Lung adenocarcinoma; moderate expression |
| MCF7 | 14.3 | Breast cancer; estrogen-responsive |
| K562 | 5.1 | Chronic myeloid leukemia; low expression |
| THP-1 | 12.0 | Monocytic leukemia; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg554Lys | Missense | <0.01% (gnomAD) | Reduced ligand binding and transactivation activity |
| p.Pro517Ser | Missense | <0.01% (gnomAD) | Altered nuclear translocation; potential loss of function |
| p.Val570Ile | Missense | 0.02% (gnomAD) | Unknown; possibly benign |
| c.1661G>A (p.Arg554Gln) | Missense | <0.01% (gnomAD) | Impaired dimerization with ARNT; reduced transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair ligand binding, dimerization with ARNT, or DNA binding (e.g., p.Arg554Lys, p.Arg554Gln) reduce AHR transcriptional activity, leading to diminished xenobiotic metabolism and altered immune responses.
Gain of Function (GOF)
Constitutive activation (e.g., via certain somatic mutations or persistent ligand exposure) can drive uncontrolled cell proliferation and tumorigenesis, particularly in T-cell lymphomas.
Dominant Negative (DN)
No well-characterized dominant-negative mutations have been reported for AHR in the literature or curated databases.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004879 – nuclear receptor activity | • GO:0005515 – protein binding |
| • GO:0008134 – transcription factor binding | • GO:0030522 – intracellular receptor signaling pathway |
| • GO:0045944 – positive regulation of transcription by RNA polymerase II | • GO:0009410 – response to xenobiotic stimulus |
| • GO:0009636 – response to toxic substance | • GO:0071548 – response to dioxin |
Pathways
• Aryl hydrocarbon receptor signaling (Reactome: R-HSA-8939211)
• Cytochrome P450 induction by xenobiotics (KEGG: hsa05204)
• AhR pathway (WikiPathways: WP2873)
Protein Summary
The aryl hydrocarbon receptor (AHR) is a 848-amino acid protein with a molecular weight of approximately 96 kDa. It contains an N-terminal bHLH domain for DNA binding, a PAS A and PAS B domain for ligand binding and dimerization with ARNT, and a C-terminal transactivation domain. Upon binding ligands such as TCDD (dioxin), AHR translocates to the nucleus, heterodimerizes with ARNT, and binds xenobiotic response elements (XREs) to regulate target genes. AHR also interacts with multiple signaling pathways including NF-κB, estrogen receptor, and p53, influencing inflammation, immunity, and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AHRR Knockout HEK293 Cell Line | EDJ-KQ11882 | Human | 57491 | Details Get a Quote |
| AHRR Knockout HeLa Cell Line | EDJ-KQ39086 | Human | 57491 | Details Get a Quote |
| AHR Knockout HeLa Cell Line | EDC90493 | Human | 196 | Details Get a Quote |
| AHRR Knockout A-549 Cell Line | EDJ-KQ40323 | Human | 57491 | Details Get a Quote |
| AHRR Knockout HCT 116 Cell Line | EDJ-KQ40324 | Human | 57491 | Details Get a Quote |
| Ahr Knockout H4-II-E Cell Line | EDJ-KZ531 | Rat | 196 | Details Get a Quote |
| Ahr Knockout RAW 264.7 Cell Line | EDJ-KZ532 | Mouse | 11622 | Details Get a Quote |
| AHR Knockout HEK293 Cell Line | EDJ-KQ50110 | Human | 196 | Details Get a Quote |
| AHR Knockout A-549 Cell Line | EDJ-KQ61062 | Human | 196 | Details Get a Quote |
| AHR Knockout HCT 116 Cell Line | EDJ-KQ69545 | Human | 196 | Details Get a Quote |
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