CXADR Gene (CXADR Ig-Like Cell Adhesion Molecule)
A comprehensive biomedical overview of the CXADR gene, its function, expression, and clinical significance.
Gene Information Card
| Symbol | CXADR |
|---|---|
| Full Name | CXADR Ig-like cell adhesion molecule |
| Gene Type | protein coding |
| Chromosomal Location | 21q21.1 |
| NCBI Gene ID | 1525 ncbi.nlm.nih.gov/gene/1525 |
| Ensembl ID | ENSG00000154639 |
| UniProt ID | P78310 |
| OMIM ID | 602621 |
| HGNC ID | 2559 |
| Aliases | CAR, CAR4/6, HCAR, Coxsackievirus and adenovirus receptor |
Description
The CXADR gene encodes the coxsackievirus and adenovirus receptor (CAR), a type I transmembrane glycoprotein belonging to the immunoglobulin (Ig) superfamily. CAR serves as the primary receptor for coxsackie B viruses and adenoviruses, facilitating viral entry into host cells. Beyond its role in viral infection, CAR is involved in cell-cell adhesion, particularly in epithelial and cardiac tissues, and plays a critical role in the development and function of the heart, immune system, and epithelial barriers. The protein is localized at tight junctions and adherens junctions, where it mediates homophilic and heterophilic interactions. CXADR is also implicated in various cancers, where its expression can influence tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coxsackievirus B infection | CAR acts as the cellular receptor for coxsackievirus B, mediating viral attachment and entry. | NCBI Gene, UniProt |
| Adenovirus infection | CAR is the primary receptor for adenovirus serotypes 2 and 5, facilitating viral entry into host cells. | NCBI Gene, UniProt |
| Myocarditis | Viral infection via CAR in cardiac myocytes can lead to myocarditis, an inflammation of the heart muscle. | OMIM, PubMed |
| Dilated cardiomyopathy | Chronic viral myocarditis and CAR-mediated signaling may contribute to the development of dilated cardiomyopathy. | OMIM, PubMed |
| Cancer (various types) | CXADR expression is altered in several cancers, including breast, prostate, and lung cancer, affecting tumor cell adhesion and invasion. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | High | High |
| Pancreas | Medium | Medium |
| Liver | Low | Low |
| Lung | Medium | Medium |
| Kidney | Medium | Medium |
| Brain | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | Medium | Endogenous expression |
| A549 (lung cancer) | Medium | Endogenous expression |
| MCF7 (breast cancer) | Low | Low expression |
| HepG2 (liver cancer) | Low | Low expression |
| Caco-2 (colon cancer) | High | High expression, polarized localization |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of function, affecting protein translation |
| c.250G>A (p.Asp84Asn) | Missense | Rare | Altered receptor function, possibly affecting viral binding |
| c.500C>T (p.Pro167Leu) | Missense | Rare | Unknown effect, may affect protein stability |
| c.700delA (p.Thr234Profs*23) | Frameshift | Rare | Predicted loss of function due to premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the extracellular domain or transmembrane region may impair receptor function, reducing viral entry and cell adhesion.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; most variants are loss-of-function or neutral.
Dominant Negative (DN)
Truncated or misfolded CAR proteins could potentially exert dominant-negative effects by interfering with wild-type protein dimerization or localization.
View complete mutation data:
Gene Ontology (GO)
| • cell adhesion molecule binding | • protein homodimerization activity |
| • virus receptor activity | • identical protein binding |
| • cell-cell adhesion | • cell adhesion |
| • immune response | • viral entry into host cell |
| • heart development | • epithelial cell differentiation |
Pathways
• Cell adhesion molecules (CAMs)
• Viral entry into host cell
• Tight junction signaling
• Adherens junction signaling
Protein Summary
The CAR protein is a 365-amino acid type I membrane protein with an extracellular region containing two immunoglobulin-like domains (IgV and IgC2), a single transmembrane helix, and a cytoplasmic tail. It forms homodimers and interacts with other proteins such as ZO-1 and β-catenin, linking it to the actin cytoskeleton. CAR is essential for normal cardiac development, as knockout mice exhibit embryonic lethality due to heart defects. In adults, CAR is expressed in epithelial cells, cardiomyocytes, and immune cells, where it maintains tissue integrity and modulates immune responses. Its role as a viral receptor is exploited in gene therapy using adenoviral vectors, but its expression can also contribute to viral pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CXADR Knockout HEK293 Cell Line | EDJ-KQ50223 | Human | 1525 | Details Get a Quote |
| CXADR Knockout HeLa Cell Line | EDJ-KQ53034 | Human | 1525 | Details Get a Quote |
| CXADR Knockout A-549 Cell Line | EDJ-KQ61498 | Human | 1525 | Details Get a Quote |
| CXADR Knockout HCT 116 Cell Line | EDJ-KQ69994 | Human | 1525 | Details Get a Quote |
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