InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ANTXR2

Summary

InnateDB Protein

IDBP-372465.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ANTXR2

Protein Name

anthrax toxin receptor 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000413700

InnateDB Gene

IDBG-26402 (ANTXR2)

Protein Structure

UniProt Annotation

Function

Necessary for cellular interactions with laminin and the extracellular matrix. {ECO:0000269PubMed:11683410, ECO:0000269PubMed:12973667}.

Subcellular Localization

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.

Disease Associations

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. {ECO:0000269PubMed:12973667, ECO:0000269PubMed:14508707, ECO:0000269PubMed:15725249}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen. {ECO:0000269PubMed:14508707}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.