CRHR2 (Corticotropin-Releasing Hormone Receptor 2): Gene, Function, and Clinical Significance
A comprehensive biomedical overview of the CRHR2 gene, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CRHR2 |
|---|---|
| Full Name | corticotropin releasing hormone receptor 2 |
| Gene Type | protein coding |
| Chromosomal Location | 7p14.3 |
| NCBI Gene ID | 1395 ncbi.nlm.nih.gov/gene/1395 |
| Ensembl ID | ENSG00000106113 |
| UniProt ID | Q13324 |
| OMIM ID | 602034 |
| HGNC ID | 2358 |
| Aliases | CRH2R, CRFR2, CRH-R2, CRHR2A, CRHR2B |
Description
The CRHR2 gene encodes the corticotropin-releasing hormone receptor 2, a G-protein coupled receptor for corticotropin-releasing hormone (CRH) and related peptides such as urocortins. It is involved in the stress response, anxiety, and energy homeostasis. The receptor is expressed in multiple tissues, including the brain, heart, and gastrointestinal tract, and mediates diverse physiological effects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anxiety disorders | Altered CRHR2 signaling may affect stress-induced anxiety behaviors; receptor activation modulates neuronal activity in limbic regions. | Association studies and animal models (PubMed, OMIM) |
| Major depressive disorder | CRHR2 variants may influence susceptibility to depression through dysregulation of the HPA axis. | Genetic association studies (OMIM, PubMed) |
| Inflammatory bowel disease | CRHR2 is expressed in the gut and may modulate intestinal inflammation and motility. | Expression studies and animal models (PubMed) |
| Cardiovascular disorders | CRHR2 activation in the heart may influence cardiac function and response to stress. | Animal studies (PubMed) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 1.2 | Low |
| Heart | 3.5 | Medium |
| Gastrointestinal tract | 2.8 | Medium |
| Lung | 0.8 | Low |
| Kidney | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 0.5 | Low expression |
| HeLa (cervical carcinoma) | 0.2 | Very low |
| HepG2 (hepatocellular carcinoma) | 0.1 | Very low |
| Caco-2 (colorectal adenocarcinoma) | 1.5 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2267715 | SNP (intronic) | Allele frequency ~0.2 (global) | Associated with altered stress response in some studies |
| rs2267716 | SNP (intronic) | Allele frequency ~0.3 | Potential link to psychiatric disorders |
| c.104G>A (p.Arg35His) | Missense | Rare | May affect receptor function; clinical significance uncertain |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CRHR2 are rare and may impair receptor signaling, potentially contributing to altered stress responses and mood disorders.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; constitutive activation is not documented.
Dominant Negative (DN)
No dominant-negative effects have been described for CRHR2 mutations.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • corticotropin-releasing hormone receptor activity |
| • peptide hormone binding | • plasma membrane |
| • integral component of membrane | • signal transduction |
| • adenylate cyclase-activating G protein-coupled receptor signaling pathway | • response to stress |
Pathways
• GPCR downstream signaling
• cAMP signaling pathway
• CRH signaling pathway
• Neuroactive ligand-receptor interaction
Protein Summary
The CRHR2 protein is a 411-amino acid seven-transmembrane G-protein coupled receptor. It binds corticotropin-releasing hormone and urocortins, leading to activation of adenylate cyclase and increased intracellular cAMP. The receptor exists in multiple isoforms (e.g., CRHR2α, CRHR2β) that differ in the N-terminal extracellular domain, influencing ligand selectivity and tissue-specific expression. It plays a role in stress response, anxiety, and gastrointestinal motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRHR2 Knockout HEK293 Cell Line | EDJ-KQ1113 | Human | 1395 | Details Get a Quote |
| CRHR2 Knockout HeLa Cell Line | EDJ-KQ52980 | Human | 1395 | Details Get a Quote |
| CRHR2 Knockout A-549 Cell Line | EDJ-KQ61446 | Human | 1395 | Details Get a Quote |
| CRHR2 Knockout HCT 116 Cell Line | EDJ-KQ69943 | Human | 1395 | Details Get a Quote |
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