Gene Gene information from NCBI Gene database.
Entrez ID 84168
Gene name ANTXR cell adhesion molecule 1
Gene symbol ANTXR1
Synonyms (NCBI Gene)
ATRGAPOTEM8
Chromosome 2
Chromosome location 2p13.3
Summary This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causat
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs119475040 G>A Risk-factor Missense variant, coding sequence variant, genic downstream transcript variant
rs371239458 T>A,C Likely-pathogenic Coding sequence variant, missense variant
rs397514700 C>T Likely-pathogenic Coding sequence variant, stop gained
rs397514701 C>T Pathogenic Coding sequence variant, stop gained
rs869312895 ->T Likely-pathogenic Frameshift variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
566
miRTarBase ID miRNA Experiments Reference
MIRT020976 hsa-miR-155-5p Proteomics 20584899
MIRT020976 hsa-miR-155-5p Proteomics 18668040
MIRT052106 hsa-let-7b-5p CLASH 23622248
MIRT640513 hsa-miR-6753-5p HITS-CLIP 23824327
MIRT640512 hsa-miR-1226-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TP53 Unknown 11711532
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0001568 Process Blood vessel development IEA
GO:0004888 Function Transmembrane signaling receptor activity IBA
GO:0004888 Function Transmembrane signaling receptor activity IDA 16762926
GO:0005515 Function Protein binding IPI 14507921, 16564009, 16762926
GO:0005518 Function Collagen binding IDA 16762926
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606410 21014 ENSG00000169604
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H6X2
Protein name Anthrax toxin receptor 1 (Tumor endothelial marker 8)
Protein function Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton and thereby plays an important role in normal extracellular matrix (ECM) homeostasis. Mediates adhesion of cells to type
PDB 3N2N , 6ADL , 6ADM , 6ADR , 6CX1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00092 VWA 44 214 von Willebrand factor type A domain Domain
PF05587 Anth_Ig 218 319 Anthrax receptor extracellular domain Domain
PF05586 Ant_C 396 488 Anthrax receptor C-terminus region Family
Tissue specificity TISSUE SPECIFICITY: Detected in umbilical vein endothelial cells (at protein level). Highly expressed in tumor endothelial cells. {ECO:0000269|PubMed:15777794}.
Sequence
Sequence length 564
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.
54
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GAPO syndrome Likely pathogenic; Pathogenic rs869312896, rs869312897, rs869312895, rs2467491761, rs2467204055, rs397514700, rs397514701 RCV000210423
RCV000210434
RCV000210416
RCV003447824
RCV003448868
RCV000043621
RCV000043622
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ANTXR1-related disorder Benign; Likely benign; Uncertain significance rs28365986, rs142417854, rs147959058, rs77687153, rs138963459, rs140035765, rs778922656, rs368125397, rs1674011815, rs766309772, rs879255533 RCV003921197
RCV004756390
RCV003916555
RCV003916576
RCV003961205
RCV003909517
RCV003956815
RCV003954595
RCV003981832
RCV003976491
RCV003390738
Bladder exstrophy-epispadias-cloacal extrophy complex Uncertain significance rs376960445 RCV003389415
Capillary infantile hemangioma risk factor; Benign; Conflicting classifications of pathogenicity rs119475040, rs6749826, rs139807657 RCV000004640
RCV003316452
RCV003316662
Cervical cancer Benign; Likely benign rs76179551, rs371818987 RCV005918480
RCV005926692
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Sickle Cell Associate 27501013
Arthritis Rheumatoid Associate 36342317
Carcinogenesis Inhibit 26996335
Cerebral Intraventricular Hemorrhage Associate 36656337
Colonic Neoplasms Associate 26822761
Colorectal Neoplasms Stimulate 15761964
Colorectal Neoplasms Associate 23372686, 25117815
Gallbladder Neoplasms Associate 21545221
Hemangioma Associate 18931684, 36656337
Hemoglobinopathies Associate 35942209