Anthrax Toxin Receptor 2

Alternative Names

  • ANTXR2
  • Capillary Morphogenesis Gene 2
  • CMG2
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OMIM Number

608041

NCBI Gene ID

118429

Uniprot ID

P58335

Length

224,309 bases

No. of Exons

18

No. of isoforms

4

Protein Name

Anthrax toxin receptor 2

Molecular Mass

53666 Da

Amino Acid Count

489

Genomic Location

chr4:79,901,146-80,125,454

Gene Map Locus
4q21.21

Description

The anthrax toxin receptor protein is so called because it allows the toxin that causes anthrax to attach to cells and trigger disease. The anthrax toxin receptor protein binds to collagen IV and laminin and may play a role in extracellular matrix adhesion. It is involved in the formation of capillaries and is also important for maintaining the structure of basement membranes. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_058172.5:c.1074delTEgypt; Kuwait; Saudi A...NC_000004.12:g.79984831delPathogenicPathogenicHyaline Fibromatosis SyndromeNG_015987.1:g.93493delT; NM_058172.5:c.1074delT; NP_477520.2:p.Ala359Hisfs312262693419342
NM_058172.5:c.1142A>GMoroccochr4:79983915PathogenicPathogenicHyaline Fibromatosis SyndromeNG_015987.1:g.94409A>G NP_477520.2:p.Tyr381Cys1378529012599
NM_058172.5:c.1340delCEgyptchr4:79978014PathogenicHyaline Fibromatosis SyndromeNG_015987.1:g.100310delC; NM_058172.5:c.1340delC; NP_477520.2:p.Pro447fsX12
NM_058172.5:c.134T>C Arab; Oman; Saudi Arab...NC_000004.12:g.80072427A>GPathogenicPathogenicHyaline Fibromatosis SyndromeNG_015987.1:g.5897T>C; NM_058172.5:c.134T>C ; NP_477520.2:p.Leu45Pro886041401280129
NM_058172.6:c.347G>TLebanonNC_000004.12:g.80055963C>APathogenicHyaline Fibromatosis SyndromeNG_015987.1:g.22361G>T; NM_058172.6:c.347G>T; NP_477520.2:p.Gly116Val1733977673
NM_058172.6:c.720delSaudi ArabiaNC_000004.12:g.80033548delLikely PathogenicLikely PathogenicHyaline Fibromatosis SyndromeNG_015987.1:g.44776del; NM_058172.6:c.720del; NP_477520.2:p.Ser240ArgfsTer201732803804982063
NM_058172.6:c.867_945delOmanNC_000004.12:g.80018898_80018976delLikely PathogenicLikely PathogenicHyaline Fibromatosis SyndromeNG_015987.1:g.59348_59426del; NM_058172.6:c.867_945del; NP_477520.2:p.Glu289AspfsTer221560998734623291
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