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.

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 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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