ANTXR2 Gene Summary [Human]
This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | ANTXR2 |
| Official Name | ANTXR cell adhesion molecule 2 [Source:HGNC Symbol;Acc:HGNC:21732] |
| Ensembl ID | ENSG00000163297 |
| Bio databases IDs | |
| Aliases | ANTXR cell adhesion molecule 2, capillary morphogenesis protein 2 |
| Synonyms | 2310046B19Rik, anthrax toxin receptor 2, ANTRX2, ANTXR cell adhesion molecule 2, ATR2, cI-35, CMG-2, HFS, ISH, JHF |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ANTXR2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MIDAS motif
- extracellular domain
- von Willebrand factor (vWF) type A domain
- von Willebrand factor type A domain
- inserted domain
- protein binding
- Anthrax receptor C-terminus region
- cytoplasmic domain
- vWFA
- transmembrane domain
- domain I
- Anthrax receptor extracellular domain
- cytosolic tail domain
- transmembrane receptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- liver cancer
- epithelial cancer
- bipolar disorder
- juvenile hyaline fibromatosis
- carbon tetrachloride-induced liver fibrosis
- hepatocellular carcinoma
- endometrial cancer
- progressive vision loss
- gout
role in cell
- activation in
- expression in
- proliferation
- survival
- apoptosis
- cell death
- cell viability
- quantity
- organization
- invasion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- cellular membrane
- Endoplasmic Reticulum
- plasma membrane extracellular face
- endosomal membrane
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ANTXR2 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endosome membrane
- extracellular region
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein binding
- transmembrane signaling receptor activity
- metal ion binding