ANTXR1 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the ANTXR1 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | ANTXR1 |
|---|---|
| Full Name | ANTXR1 (anthrax toxin receptor 1) |
| Gene Type | protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 84168 ncbi.nlm.nih.gov/gene/84168 |
| Ensembl ID | ENSG00000169604 |
| UniProt ID | Q9H6X2 |
| OMIM ID | 606410 |
| HGNC ID | HGNC:21782 |
| Aliases | TEM8, ATR, FLJ10865, FLJ21769, FLJ39879 |
Description
ANTXR1 encodes the anthrax toxin receptor 1 (also known as tumor endothelial marker 8, TEM8), a type I transmembrane protein that binds to the protective antigen (PA) component of anthrax toxin, facilitating its entry into cells. Beyond its role in anthrax infection, ANTXR1 is involved in extracellular matrix adhesion, cell migration, and angiogenesis. It is highly expressed in tumor vasculature and has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | Loss-of-function mutations in ANTXR1 disrupt normal bone remodeling and angiogenesis, leading to digital clubbing and periostosis. | OMIM: 606410; PubMed: 22677543 |
| Cancer (various types) | Overexpression of ANTXR1 in tumor endothelial cells promotes angiogenesis and tumor growth; also involved in tumor cell invasion and metastasis. | COSMIC; PubMed: 12609947, 19029907 |
| Anthrax infection | ANTXR1 serves as a receptor for anthrax toxin; its expression on host cells is essential for toxin entry and pathogenesis. | PubMed: 11551504 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 10.2 | Low |
| Spleen | 8.7 | Low |
| Small intestine | 7.5 | Low |
| Colon | 6.8 | Low |
| Kidney | 5.9 | Low |
| Liver | 4.3 | Low |
| Heart | 3.1 | Not detected |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.3 | High expression; relevant to angiogenesis |
| HeLa (cervical cancer) | 8.2 | Moderate expression |
| A549 (lung cancer) | 7.1 | Moderate expression |
| MCF7 (breast cancer) | 5.4 | Low expression |
| K562 (leukemia) | 2.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.400C>T (p.Arg134Ter) | Nonsense | Rare | Loss of function; associated with hypertrophic osteoarthropathy |
| c.1186G>A (p.Gly396Arg) | Missense | Rare | Likely loss of function; reported in patients with HOA |
| c.1333C>T (p.Arg445Ter) | Nonsense | Rare | Loss of function; associated with HOA |
| c.1576G>A (p.Glu526Lys) | Missense | Rare | Uncertain significance; may affect protein function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (nonsense, frameshift, splice-site) in ANTXR1 lead to reduced or absent protein function, causing autosomal recessive hypertrophic osteoarthropathy. These mutations impair the receptor's role in extracellular matrix interactions and angiogenesis.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported for ANTXR1. Overexpression in tumors is due to transcriptional upregulation rather than activating mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects for ANTXR1 mutations. The disease phenotype is recessive, requiring biallelic loss.
View complete mutation data：
Gene Ontology (GO)
| • anthrax toxin receptor activity | • protein binding |
| • extracellular matrix binding | • integrin binding |
| • cell adhesion | • angiogenesis |
| • cell migration | • signal transduction |
| • membrane |
Pathways
• Anthrax toxin entry pathway
• Integrin signaling
• Angiogenesis
• Extracellular matrix organization
Protein Summary
ANTXR1 encodes a 368-amino acid type I transmembrane protein with an extracellular domain containing a von Willebrand factor type A (vWA) domain, a transmembrane domain, and a cytoplasmic tail. The vWA domain binds to the anthrax toxin protective antigen (PA) and also interacts with extracellular matrix components such as collagen and laminin. The protein is involved in cell adhesion, migration, and angiogenesis, and is highly expressed in tumor vasculature. It exists in multiple isoforms due to alternative splicing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANTXR1 Knockout HEK293 Cell Line | EDJ-KQ2796 | Human | 84168 | Details Get a Quote |
| ANTXR1 Knockout A-549 Cell Line | EDJ-KQ23724 | Human | 84168 | Details Get a Quote |
| ANTXR1 Knockout HCT 116 Cell Line | EDJ-KQ23725 | Human | 84168 | Details Get a Quote |
| ANTXR1 Knockout HeLa Cell Line | EDJ-KQ23726 | Human | 84168 | Details Get a Quote |
