ANTXR2 Antibody – Goat Polyclonal

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]

Function: Necessary for cellular interactions with laminin and the extracellular matrix. Ref.1 Ref.15

Subunit structure: Binds laminin, and possibly also collagen type IV. Binds to the protective antigen (PA) of Bacillus anthracis in a divalent cation-dependent manner, with the following preference: calcium > manganese > magnesium > zinc. Binding of PA leads to heptamerization of the receptor-PA complex.

Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein. Note: Expressed at the cell surface.Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note: Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane.Isoform 3: Secreted.

Tissue specificity: Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen. Ref.14

Domain: Binding to PA seems to be effected through the VWA domain.

Involvement in disease: Hyaline fibromatosis syndrome (HFS) [MIM:228600]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14 Ref.15 Ref.16

Miscellaneous: Upon binding of the protective antigen (PA) of Bacillus anthracis the complex moves to glycosphingolipid-rich lipid rafts, where it is internalized via a clathrin-dependent pathway.

Sequence similarities: Belongs to the ATR family.Contains 1 VWFA domain.

Sequence caution: The sequence AAY40907.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence BAB70976.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence BAD93150.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.