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ANTXR2 (ANTXR cell adhesion molecule 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
118429
Gene nameGene Name - the full gene name approved by the HGNC.
ANTXR cell adhesion molecule 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ANTXR2
SynonymsGene synonyms aliases
CMG-2, CMG2, HFS, ISH, JHF
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.21
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137852901 T>A,C Pathogenic Missense variant, coding sequence variant
rs137852902 C>T Pathogenic Missense variant, coding sequence variant
rs137852903 A>C Pathogenic Missense variant, coding sequence variant
rs137852904 C>A,T Pathogenic Stop gained, coding sequence variant, missense variant
rs137852905 A>G Pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017139 hsa-miR-335-5p Microarray 18185580
MIRT044967 hsa-miR-186-5p CLASH 23622248
MIRT613328 hsa-miR-8485 HITS-CLIP 23824327
MIRT613327 hsa-miR-342-3p HITS-CLIP 23824327
MIRT390883 hsa-miR-7110-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IBA 21873635
GO:0005515 Function Protein binding IPI 15044490, 15243628, 15326297
GO:0005576 Component Extracellular region IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005886 Component Plasma membrane IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P58335
Protein name Anthrax toxin receptor 2 (Capillary morphogenesis gene 2 protein) (CMG-2)
Protein function Necessary for cellular interactions with laminin and the extracellular matrix. ; (Microbial infection) Receptor for the protective antigen (PA) of B.anthracis (PubMed:12700348,
PDB 1SHT , 1SHU , 1T6B , 1TZN , 7N1O , 8FT6 , 8FT8 , 8FZ4 , 8FZU , 8FZV , 9DOC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00092 VWA
44 212
von Willebrand factor type A domain
Domain
PF05587 Anth_Ig
216 317
Anthrax receptor extracellular domain
Domain
PF05586 Ant_C
394 484
Anthrax receptor C-terminus region
Family
Sequence
Sequence length 489
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  NOD-like receptor signaling pathway   Uptake and function of anthrax toxins
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Developmental delay Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Fibromatosis Fibromatosis rs397517148, rs397517154, rs1553904077, rs1553904346, rs1553354396, rs727505093 14508707, 12973667
Hyaline fibromatosis syndrome Juvenile hyaline fibromatosis rs546102223, rs137852901, rs137852902, rs137852903, rs137852904, rs137852905, rs312262690, rs797045028, rs797045029, rs886039907, rs886041401, rs312262693, rs1553933367, rs1560998734, rs1578125066, rs1578172709
Unknown
Disease name Disease term dbSNP ID References
Ankylosing spondylitis Ankylosing spondylitis 20062062, 21743469, 26974007
Cholangitis Cholangitis, Sclerosing 26974007
Crohn disease Crohn Disease rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438 26974007
Dwarfism Dwarfism

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