NP_001139266.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
53,493 Da
NCBI Official Full Name
anthrax toxin receptor 2 isoform 2
NCBI Official Synonym Full Names
anthrax toxin receptor 2
NCBI Protein Information
anthrax toxin receptor 2
UniProt Protein Name
Anthrax toxin receptor 2
UniProt Synonym Protein Names
Capillary morphogenesis gene 2 protein; CMG-2
UniProt Synonym Gene Names
NCBI Summary for ANTXR2
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]
UniProt Comments for ANTXR2
ANTXR2: Necessary for cellular interactions with laminin and the extracellular matrix. Defects in ANTXR2 are the cause of infantile systemic hyalinosis (ISH). 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. Defects in ANTXR2 are the cause of juvenile hyaline fibromatosis (JHF). 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. Belongs to the ATR family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Receptor, misc.
Chromosomal Location of Human Ortholog: 4q21.21
Cellular Component: endoplasmic reticulum membrane; endosome membrane; external side of plasma membrane; extracellular region; integral component of membrane; plasma membrane
Molecular Function: metal ion binding; protein binding; receptor activity
Biological Process: reproductive process
Disease: Hyaline Fibromatosis Syndrome
Research Articles on ANTXR2
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-ANTXR2 antibody
Pathways associated with anti-ANTXR2 antibody
Diseases associated with anti-ANTXR2 antibody
Organs/Tissues associated with anti-ANTXR2 antibody
|