ANTXR2
entrez
118429
canonical
uniprot
P58335
canonical
ensembl
ENSG00000163297
resolver
ensp
ENSP00000306185
resolver
ensp
ENSP00000384028
resolver
ensp
ENSP00000385575
resolver
ensp
ENSP00000505865
resolver
enst
ENST00000404191
resolver
enst
ENST00000681710
resolver
genesymbol
ANTXR2
resolver
genesymbol_syn
CMG2
resolver
hgnc
HGNC:21732
resolver
uniprot
A4FUA5
resolver
uniprot
J3KPY9
resolver
uniprot
Q32Q26
resolver
uniprot
Q4W5H6
resolver
uniprot
Q59E98
resolver
uniprot
Q5JPE9
resolver
uniprot
Q86UI1
resolver
uniprot
Q8N4J8
resolver
uniprot
Q8NB13
resolver
uniprot
Q96NC7
resolver
uniprot_entry
A4FUA5_HUMAN
resolver
uniprot_entry
ANTR2_HUMAN
resolver
uniprot_entry
J3KPY9_HUMAN
resolver
uniprot_entry
Q32Q26_HUMAN
resolver
uniprot_sec
Q4W5H6
resolver
uniprot_sec
Q59E98
resolver
uniprot_sec
Q5JPE9
resolver
uniprot_sec
Q86UI1
resolver
uniprot_sec
Q8N4J8
resolver
uniprot_sec
Q8NB13
resolver
uniprot_sec
Q96NC7
resolver
amino_acid_sequence
MVAERSPARSPGSWLFPGLWLLVLSGPGGLLRAQEQPSCRRAFDLYFVLDKSGSVANNWIEIYNFVQQLAERFVSPEMRLSFIVFSSQATIILPLTGDRGKISKGLEDLKRVSPVGETYIHEGLKLANEQIQKAGGLKTSSIIIALTDGKLDGLVPSYAEKEAKISRSLGASVYCVGVLDFEQAQLERIADSKEQVFPVKGGFQALKGIINSILAQSCTEILELQPSSVCVGEEFQIVLSGRGFMLGSRNGSVLCTYTVNETYTTSVKPVSVQLNSMLCPAPILNKAGETLDVSVSFNGGKSVISGSLIVTATECSNGIAAIIVILVLLLLLGIGLMWWFWPLCCKVVIKDPPPPPAPAPKEEEEEPLPTKKWPTVDASYYGGRGVGGIKRMEVRWGDKGSTEEGARLEKAKNAVVKIPEETEEPIRPRPPRPKPTHQPPQTKWYTPIKGRLDALWALLRRQYDRVSLMRPQEGDEVCIWECIEKELTA
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:12973667, ECO:0000269|PubMed:14508707, ECO:0000269|PubMed:15725249}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Necessary for cellular interactions with laminin and the extracellular matrix. {ECO:0000269|PubMed:11683410, ECO:0000269|PubMed:12973667}.; FUNCTION: (Microbial infection) Receptor for the protective antigen (PA) of B.anthracis (PubMed:12700348, PubMed:15243628, PubMed:15326297). Binding of PA leads to heptamerization of the receptor-PA complex (PubMed:12700348, PubMed:15243628, PubMed:15326297). Upon binding of the PA of B.anthracis, the complex moves to glycosphingolipid-rich lipid rafts, where it is internalized via a clathrin-dependent pathway (PubMed:12551953, PubMed:15337774). In the endosomal membrane, at pH under 7, the complex then rearranges and forms a pore allowing the other components of anthrax toxin to escape to the cytoplasm (PubMed:12551953, PubMed:15337774). {ECO:0000269|PubMed:12551953, ECO:0000269|PubMed:12700348, ECO:0000269|PubMed:15243628, ECO:0000269|PubMed:15326297, ECO:0000269|PubMed:15337774}.
uniprot
proteins
mass_dalton
53666
uniprot
proteins
protein_family
ATR family
uniprot
proteins
pubmed
11683410
uniprot
proteins
pubmed
12551953
uniprot
proteins
pubmed
12700348
uniprot
proteins
pubmed
12973667
uniprot
proteins
pubmed
14508707
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15079089
uniprot
proteins
pubmed
15243628
uniprot
proteins
pubmed
15326297
uniprot
proteins
pubmed
15337774
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15725249
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19690332
uniprot
proteins
sequence_length
489
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000269|PubMed:12700348}; Single-pass type I membrane protein {ECO:0000255}. Note=Expressed at the cell surface. {ECO:0000269|PubMed:12700348}.; SUBCELLULAR LOCATION: [Isoform 2]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11683410}; Single-pass type I membrane protein {ECO:0000255}. Note=Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane. {ECO:0000269|PubMed:11683410}.; SUBCELLULAR LOCATION: [Isoform 3]: Secreted {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 319..341; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins