Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84168
Gene name Gene Name - the full gene name approved by the HGNC.
ANTXR cell adhesion molecule 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANTXR1
Synonyms (NCBI Gene) Gene synonyms aliases
ATR, GAPO, TEM8
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
TP53 Unknown 11711532
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001568 Process Blood vessel development IEA
GO:0004888 Function Transmembrane signaling receptor activity IBA 21873635
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606410 21014 ENSG00000169604
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Gapo syndrome GAPO syndrome rs397514700, rs397514701, rs869312896, rs869312897, rs869312895
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Hemangioma Hemangioma, HEMANGIOMA, CAPILLARY INFANTILE rs121917766 18931684
Unknown
Disease term Disease name Evidence References Source
Asthma Childhood asthma 17611496 ClinVar
Atherosclerosis Atherosclerosis ClinVar
Capillary hemangioma NON RARE IN EUROPE: Infantile capillary hemangioma ClinVar
Breast cancer Breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
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