Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
118429
Gene name Gene Name - the full gene name approved by the HGNC.
ANTXR cell adhesion molecule 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANTXR2
Synonyms (NCBI Gene) Gene synonyms aliases
CMG-2, CMG2, HFS, ISH, JHF
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HFS
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.21
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608041 21732 ENSG00000163297
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Developmental delay Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
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
View all (1 more)
Unknown
Disease term Disease name Evidence References Source
Crohn disease Crohn Disease 26974007 ClinVar
Ankylosing Spondylitis Ankylosing Spondylitis GWAS
Gout Gout GWAS
Myopia Myopia GWAS
Associations from Text Mining
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