ANTXR2 Chromosome 4
ANTXR cell adhesion molecule 2
Upload your DNA to see your personal genotypes for variants in ANTXR2.
What This Gene Does
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]
Associated Conditions (4)
Hyaline fibromatosis syndrome
ANTXR2-related disorder
Familial cancer of breast
Juvenile hyaline fibromatosis
Key Variants
RS112023055
Conflicting classifications of pathogenicity
Hyaline fibromatosis syndrome, ANTXR2-related disorder, Hyaline fibromatosis syndrome
Health Risk
RS144618912
Conflicting classifications of pathogenicity
Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
Health Risk
RS185151361
Conflicting classifications of pathogenicity
Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
Health Risk
RS375440055
Conflicting classifications of pathogenicity
Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
Health Risk
RS1057521726
Likely pathogenic
Health Risk
RS1312776461
Likely pathogenic
Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
Health Risk
RS1560998734
Likely pathogenic
Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
Health Risk
RS1578125066
Likely pathogenic
Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
Health Risk
RS1578172709
Likely pathogenic
Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
Health Risk
RS2110109074
Likely pathogenic
Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
Health Risk
RS2475777661
Likely pathogenic
Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
Health Risk
RS2475931922
Likely pathogenic
Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112023055 | Health Risk | Conflicting classifications of pathogenicity | Hyaline fibromatosis syndrome, ANTXR2-related disorder, Hyaline fibromatosis syndrome |
| RS144618912 | Health Risk | Conflicting classifications of pathogenicity | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS185151361 | Health Risk | Conflicting classifications of pathogenicity | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS375440055 | Health Risk | Conflicting classifications of pathogenicity | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS1057521726 | Health Risk | Likely pathogenic | — |
| RS1312776461 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS1560998734 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS1578125066 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS1578172709 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS2110109074 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS2475777661 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS2475931922 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS2476136524 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS2476136571 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS2476139225 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS779690230 | Health Risk | Likely pathogenic | ANTXR2-related disorder, Familial cancer of breast, ANTXR2-related disorder |
| RS797045029 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS886041401 | Health Risk | Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS137852901 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS137852902 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS137852903 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS137852904 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS137852905 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS1553933367 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS1729718087 | Health Risk | Pathogenic | — |
| RS2475949002 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS312262690 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS312262693 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS546102223 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS556120147 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS750324212 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS797045028 | Health Risk | Pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS1732803804 | Health Risk | Pathogenic/Likely pathogenic | Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome |
| RS781637328 | Health Risk | Pathogenic/Likely pathogenic | Hyaline fibromatosis syndrome, Juvenile hyaline fibromatosis, Hyaline fibromatosis syndrome |