InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ANTXR2

Summary

InnateDB Protein

IDBP-26406.6

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

ENSP00000306185

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.

Experimentally validated
Total	20 [view]
Protein-Protein	20 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0022414

reproductive process

Cellular Component

GO:0005576	extracellular region
GO:0005789	endoplasmic reticulum membrane
GO:0005886	plasma membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR002035 von Willebrand factor, type A
IPR008399 Anthrax toxin receptor, C-terminal
IPR008400 Anthrax toxin receptor, extracellular
IPR014756 Immunoglobulin E-set
IPR017360 Anthrax toxin receptor

PFAM

PF00092
PF05586
PF05587

PRINTS

PIRSF

PIRSF038023

SMART

SM00327

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt