ANTXR1 (ANTXR cell adhesion molecule 1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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84168 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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ANTXR1 |
SynonymsGene synonyms aliases
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ATR, GAPO, TEM8 |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p13.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
rs869312896 |
A>G |
Likely-pathogenic |
Coding sequence variant, synonymous variant |
rs869312897 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs879255533 |
A>C,G |
Pathogenic |
Genic downstream transcript variant, intron variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Transcription factor |
Regulation |
Reference |
TP53 |
Unknown |
11711532 |
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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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 |
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Hemangioma |
Hemangioma, HEMANGIOMA, CAPILLARY INFANTILE |
rs119475040, rs121917766 |
18931684 |
Hypotrichosis |
Hypotrichosis |
rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121 |
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Keratoconus |
Keratoconus |
rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019 |
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Myopia |
Myopia |
rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 |
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Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
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Oligospermia |
Oligospermia |
rs1602125411, rs2047796277, rs377712900 |
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Optic atrophy |
Optic Atrophy |
rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 |
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Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Alopecia |
Alopecia |
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Atherosclerosis |
Atherosclerosis |
rs699947, rs59439148 |
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Capillary hemangioma |
NON RARE IN EUROPE: Infantile capillary hemangioma |
rs933640981 |
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Choanal atresia |
Choanal Atresia |
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Congenital exomphalos |
Congenital exomphalos |
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Breast hypoplasia |
Congenital hypoplasia of breast |
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Defect of skull ossification |
Defect of skull ossification |
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Dwarfism |
Dwarfism |
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Frontal bossing |
Frontal bossing |
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Growth retardation, alopecia, pseudoanodontia and optic atrophy |
Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy |
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23602711, 25045128 |
Hypogonadism |
Hypogonadism |
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Hypoplasia of nipple |
Hypoplasia of nipple |
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Malocclusion |
Class III malocclusion |
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Micrognathism |
Micrognathism |
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Nail diseases |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
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Nail dysplasia |
Nail dysplasia |
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Nephrolithiasis |
Nephrolithiasis |
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Strabismus |
Strabismus |
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Strawberry nevus of skin |
Strawberry nevus of skin |
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