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ANTXR1 (ANTXR cell adhesion molecule 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84168
Gene nameGene Name - the full gene name approved by the HGNC.
ANTXR cell adhesion molecule 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ANTXR1
SynonymsGene synonyms aliases
ATR, GAPO, TEM8
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 564
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  NOD-like receptor signaling pathway   Uptake and function of anthrax toxins
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Childhood asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 17611496
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 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, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Unknown
Disease name Disease term dbSNP ID References
Alopecia Alopecia
Atherosclerosis Atherosclerosis rs699947, rs59439148
Capillary hemangioma NON RARE IN EUROPE: Infantile capillary hemangioma rs933640981
Choanal atresia Choanal Atresia

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