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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
GAPO syndrome Likely pathogenic; Pathogenic rs869312896, rs869312897, rs869312895, rs2467491761, rs2467204055, rs397514700, rs397514701 RCV000210423
RCV000210434
RCV000210416
RCV003447824
RCV003448868
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTXR1-related disorder Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder exstrophy-epispadias-cloacal extrophy complex Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 31520110
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 27501013 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 27501013, 30114697
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31191663
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 36342317 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17016666, 17361485, 23832666, 30046396
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinogenesis Carcinogenesis Pubtator 26996335 Inhibit
★☆☆☆☆
Found in Text Mining only