ID:ANTR2_HUMAN DESCRIPTION: RecName: Full=Anthrax toxin receptor 2; AltName: Full=Capillary morphogenesis gene 2 protein; Short=CMG-2; Flags: Precursor; FUNCTION: Necessary for cellular interactions with laminin and the extracellular matrix. SUBUNIT: 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. INTERACTION: P13423:pagA (xeno); NbExp=7; IntAct=EBI-456840, EBI-456868; SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein. Note=Expressed at the cell surface. SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane. SUBCELLULAR LOCATION: 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. DOMAIN: Binding to PA seems to be effected through the VWA domain. DISEASE: Defects in ANTXR2 are the cause of infantile systemic hyalinosis (ISH) [MIM:236490]. This autosomal recessive syndrome is similar to JHF, but has an earlier onset and a more severe course. Symptoms appear at birth or within the first months of life, with painful, swollen joint contractures, osteopenia, osteoporosis and livid red hyperpigmentation over bony prominences. Patients develop multiple subcutaneous skin tumors and gingival hypertrophy. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to death within the first 2 years of life. Surviving children may suffer from severely reduced mobility due to joint contractures. DISEASE: Defects in ANTXR2 are the cause of juvenile hyaline fibromatosis (JHF) [MIM:228600]. JHF is an autosomal recessive syndrome that is similar to ISH but takes a milder course. It is characterized by hyaline deposition in the dermis, multiple subcutaneous skin tumors and gingival hypertrophy, followed by progressive joint contractions, osteopenia and osteoporosis that may lead to a severe limitation of mobility. 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. SIMILARITY: Belongs to the ATR family. SIMILARITY: Contains 1 VWFA domain. SEQUENCE CAUTION: Sequence=AAY40907.1; Type=Erroneous gene model prediction; Sequence=BAB70976.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD93150.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ANTXR2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00092 - von Willebrand factor type A domain PF05586 - Anthrax receptor C-terminus region PF05587 - Anthrax receptor extracellular domain PF13519 - von Willebrand factor type A domain
SCOP Domains: 81296 - E set domains 53300 - vWA-like
ModBase Predicted Comparative 3D Structure on P58335
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
