ANTXR2

ANTXR2 is 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.

Full Name

Anthrax Toxin Receptor 2

Function

Necessary for cellular interactions with laminin and the extracellular matrix.

Biological Process

Toxin transport Source: GO_Central

Cellular Location

Isoform 1: Cell membrane. Expressed at the cell surface.
Isoform 2: Endoplasmic reticulum membrane. Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane.
Isoform 3: Secreted

Involvement in disease

Hyaline fibromatosis syndrome (HFS): An autosomal recessive syndrome characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Disease severity is variable. Some individuals manifest symptoms in infancy and have additional visceral or systemic involvement. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to early death. Surviving children may suffer from severely reduced mobility due to joint contractures. Other patients have later onset of a milder disorder affecting only the face and digits.

Topology

Extracellular: 34-318 aa
Helical: 319-341 aa
Cytoplasmic: 342-489 aa