Gene Gene information from NCBI Gene database.
Entrez ID 118429
Gene name ANTXR cell adhesion molecule 2
Gene symbol ANTXR2
Synonyms (NCBI Gene)
CMG-2CMG2HFSISHJHF
Chromosome 4
Chromosome location 4q21.21
Summary 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
SNPs SNP information provided by dbSNP.
17
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
miRNA miRNA information provided by mirtarbase database.
568
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IBA
GO:0005515 Function Protein binding IPI 15044490, 15243628, 15326297
GO:0005576 Component Extracellular region IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608041 21732 ENSG00000163297
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen. {ECO:0000269|PubMed:14508707}.
Sequence
Sequence length 489
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  NOD-like receptor signaling pathway   Uptake and function of anthrax toxins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
213
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ANTXR2-related disorder Likely pathogenic rs779690230 RCV003419017
Familial cancer of breast Likely pathogenic rs779690230 RCV005932793
Hyaline fibromatosis syndrome Likely pathogenic; Pathogenic rs2110109074, rs312262690, rs546102223, rs137852901, rs137852902, rs137852903, rs137852904, rs137852905, rs2476136524, rs797045028, rs797045029, rs2475931922, rs2476136571, rs2476139225, rs1312776461
View all (12 more)
RCV001785948
RCV001806360
RCV000002716
RCV000002717
RCV000002718
RCV000002719
RCV000002720
RCV000002721
RCV000002722
RCV002308730
RCV000191061
RCV000191062
RCV003140486
RCV003140617
RCV003132937
RCV003155783
RCV001261563
RCV003331835
RCV003337920
RCV003338921
RCV001261562
RCV000677229
RCV000761417
RCV000991423
RCV001004058
RCV001251177
RCV001261564
RCV001261565
Juvenile hyaline fibromatosis Likely pathogenic; Pathogenic rs781637328 RCV005408784
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs34887464 RCV005922146
Central core myopathy Benign rs141355689 RCV001258274
Cervical cancer Benign rs34887464 RCV005922148
Colon adenocarcinoma Likely benign rs753206187 RCV005871463
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 37759083
Breast Neoplasms Associate 36316045
Carcinoma Non Small Cell Lung Associate 35189107
Cerebral Infarction Associate 31168961
Contracture Associate 25186005
Diarrhea Associate 33147779
Genetic Diseases Inborn Associate 15079089
Gingival Hypertrophy Associate 25186005
Hyaline Fibromatosis Syndrome Associate 15079089, 21328543, 22383261, 25186005, 25458638, 25781883, 28103792, 29801470, 31455396, 32196989, 33147779, 34627224, 35752930, 37264371
Hyaline Membrane Disease Associate 31455396