ANTXR1 Chromosome 2
ANTXR cell adhesion molecule 1
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What This Gene Does
This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
2p13.3
Ensembl
ENSG00000169604
Associated Conditions (3)
Capillary infantile hemangioma
Inborn genetic diseases
GAPO syndrome
Key Variants
RS139807657
Conflicting classifications of pathogenicity
Capillary infantile hemangioma, Capillary infantile hemangioma
Health Risk
RS772914284
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS776436815
Conflicting classifications of pathogenicity
Inborn genetic diseases, GAPO syndrome, Inborn genetic diseases
Health Risk
RS2467204055
Likely pathogenic
GAPO syndrome, GAPO syndrome
Health Risk
RS2467491761
Likely pathogenic
GAPO syndrome, GAPO syndrome
Health Risk
RS371239458
Likely pathogenic
Health Risk
RS869312895
Likely pathogenic
GAPO syndrome, GAPO syndrome
Health Risk
RS869312896
Likely pathogenic
GAPO syndrome, GAPO syndrome
Health Risk
RS869312897
Likely pathogenic
GAPO syndrome, GAPO syndrome
Health Risk
RS397514701
Pathogenic
GAPO syndrome, GAPO syndrome
Health Risk
RS397514700
Pathogenic/Likely pathogenic
GAPO syndrome, GAPO syndrome
Health Risk
RS119475040
risk factor
Capillary infantile hemangioma, Capillary infantile hemangioma
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139807657 | Health Risk | Conflicting classifications of pathogenicity | Capillary infantile hemangioma, Capillary infantile hemangioma |
| RS772914284 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776436815 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, GAPO syndrome, Inborn genetic diseases |
| RS2467204055 | Health Risk | Likely pathogenic | GAPO syndrome, GAPO syndrome |
| RS2467491761 | Health Risk | Likely pathogenic | GAPO syndrome, GAPO syndrome |
| RS371239458 | Health Risk | Likely pathogenic | — |
| RS869312895 | Health Risk | Likely pathogenic | GAPO syndrome, GAPO syndrome |
| RS869312896 | Health Risk | Likely pathogenic | GAPO syndrome, GAPO syndrome |
| RS869312897 | Health Risk | Likely pathogenic | GAPO syndrome, GAPO syndrome |
| RS397514701 | Health Risk | Pathogenic | GAPO syndrome, GAPO syndrome |
| RS397514700 | Health Risk | Pathogenic/Likely pathogenic | GAPO syndrome, GAPO syndrome |
| RS119475040 | Health Risk | risk factor | Capillary infantile hemangioma, Capillary infantile hemangioma |