GENETIC ENCYCLOPEDIA
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gene: ANTXR2

id118429
symbolANTXR2
organismHomo sapiens
full nameANTXR cell adhesion molecule 2
summaryThis 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]
variant-disease

NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys) AND Hyaline fibromatosis syndrome

NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) AND Hyaline fibromatosis syndrome

ANTXR2, 1-BP DEL, 1074T AND Hyaline fibromatosis syndrome

NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) AND Hyaline fibromatosis syndrome

NM_001145794.1(ANTXR2):c.-714A>T AND Hyaline fibromatosis syndrome

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