ANTXR1
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Also known as TEM8FLJ21776FLJ10601ATR
Summary
ANTXR1 (ANTXR cell adhesion molecule 1, HGNC:21014) is a protein-coding gene on chromosome 2p13.3, encoding Anthrax toxin receptor 1 (Q9H6X2). Plays a role in cell attachment and migration. It is a common-essential gene (DepMap: required in 97.4% of cancer cell lines).
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 causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described.
Source: NCBI Gene 84168 — RefSeq curated summary.
At a glance
- Gene–disease (curated): GAPO syndrome (Definitive, ClinGen) — +6 more curated relationships
- GWAS associations: 39
- Clinical variants (ClinVar): 4,402 total — 98 pathogenic, 52 likely-pathogenic
- Phenotypes (HPO): 102
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 4 cancer types
- Cancer dependency (DepMap): dependent in 97.4% of screened cell lines (common-essential)
- Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_032208
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21014 |
| Approved symbol | ANTXR1 |
| Name | ANTXR cell adhesion molecule 1 |
| Location | 2p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TEM8, FLJ21776, FLJ10601, ATR |
| Ensembl gene | ENSG00000169604 |
| Ensembl biotype | protein_coding |
| OMIM | 606410 |
| Entrez | 84168 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 8 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000303714, ENST00000409349, ENST00000409829, ENST00000463335, ENST00000481119, ENST00000482235, ENST00000497197, ENST00000679548, ENST00000681059, ENST00000681568, ENST00000681816, ENST00000894109
RefSeq mRNA: 4 — MANE Select: NM_032208
NM_001410840, NM_018153, NM_032208, NM_053034
CCDS: CCDS1892, CCDS46313, CCDS46314, CCDS92773
Canonical transcript exons
ENST00000303714 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001130052 | 69245225 | 69249327 |
| ENSE00001164648 | 69193335 | 69193415 |
| ENSE00001164655 | 69182493 | 69182660 |
| ENSE00001164661 | 69181786 | 69181881 |
| ENSE00001190737 | 69124565 | 69124643 |
| ENSE00001360156 | 69152169 | 69152264 |
| ENSE00001360162 | 69102842 | 69102940 |
| ENSE00001360193 | 69123017 | 69123086 |
| ENSE00001434518 | 69170248 | 69170289 |
| ENSE00001920255 | 69013179 | 69013651 |
| ENSE00003504437 | 69077408 | 69077488 |
| ENSE00003576810 | 69071754 | 69071787 |
| ENSE00003579443 | 69090859 | 69090919 |
| ENSE00003598462 | 69073022 | 69073101 |
| ENSE00003611927 | 69075590 | 69075658 |
| ENSE00003648213 | 69070647 | 69070728 |
| ENSE00003656385 | 69040044 | 69040115 |
| ENSE00003665749 | 69044742 | 69044813 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 99.54.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.1293 / max 866.6649, expressed in 1356 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 20741 | 13.5011 | 1075 |
| 20743 | 9.7883 | 1279 |
| 20745 | 2.9893 | 606 |
| 20744 | 2.9493 | 1063 |
| 20742 | 0.9014 | 402 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 99.54 | gold quality |
| decidua | UBERON:0002450 | 99.41 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 99.35 | gold quality |
| saphenous vein | UBERON:0007318 | 99.23 | gold quality |
| vena cava | UBERON:0004087 | 99.06 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 99.02 | gold quality |
| right coronary artery | UBERON:0001625 | 98.99 | gold quality |
| synovial joint | UBERON:0002217 | 98.77 | gold quality |
| pericardium | UBERON:0002407 | 98.65 | gold quality |
| urethra | UBERON:0000057 | 98.54 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.45 | gold quality |
| ascending aorta | UBERON:0001496 | 98.44 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.27 | gold quality |
| mammalian vulva | UBERON:0000997 | 98.24 | gold quality |
| skin of hip | UBERON:0001554 | 98.23 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.21 | gold quality |
| tibia | UBERON:0000979 | 98.15 | gold quality |
| aorta | UBERON:0000947 | 98.09 | gold quality |
| coronary artery | UBERON:0001621 | 98.07 | gold quality |
| gall bladder | UBERON:0002110 | 98.00 | gold quality |
| left coronary artery | UBERON:0001626 | 97.92 | gold quality |
| mammary duct | UBERON:0001765 | 97.91 | gold quality |
| artery | UBERON:0001637 | 97.84 | gold quality |
| popliteal artery | UBERON:0002250 | 97.81 | gold quality |
| tibial artery | UBERON:0007610 | 97.81 | gold quality |
| visceral pleura | UBERON:0002401 | 97.80 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.74 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 97.56 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.37 | gold quality |
| tendon | UBERON:0000043 | 97.34 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 54.53 |
| E-MTAB-8410 | yes | 41.62 |
| E-ANND-3 | yes | 19.68 |
| E-CURD-119 | yes | 9.74 |
| E-GEOD-83139 | yes | 6.63 |
| E-ENAD-27 | yes | 6.55 |
| E-GEOD-124858 | no | 429.83 |
| E-MTAB-10290 | no | 204.13 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
203 targeting ANTXR1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
Functional genomics
ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
DepMap (CRISPR cell-line fitness): dependent in 97.4% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 40)
- Here we describe the cloning of the human PA receptor using a genetic complementation approach (PMID:11700562)
- ATR/TEM8 protein is highly expressed in epithelial cells, which represent the primary location for bacterial invasion. (PMID:15689409)
- This is the first demonstration that the ATR/TEM8 protein is highly expressed in epithelial cells, suggesting that the ATR/TEM8 expression pattern is highly relevant for understanding the pathogenesis of anthrax infection. (PMID:15689409)
- results indicate that TEM8 plays a positive role in endothelial cell activities related to angiogenesis (PMID:15777794)
- These results suggest that the TEM-8 vW and transmembrane domains may play an important biological role in TEM-8 related tubule formation. (PMID:15993844)
- because protective antigen binds to CMG2 with much higher affinity than it does to TEM8, a lower pH is needed to attenuate CMG2 binding to allow pore formation; toxin can form pores at different points in the endocytic pathway (PMID:16141341)
- Data show that cells expressing palmitoylation-defective mutant receptors are less sensitive to anthrax toxin due to a lower number of surface receptors as well as premature internalization of protective antigen without a requirement for heptamerization. (PMID:16401723)
- TEM8 is a new adhesion molecule linking collagen I or PA to the actin cytoskeleton (PMID:16762926)
- TEM8 expression levels in DC-based therapeutic vaccines would allow the selection of a subgroup of patients who are most likely to benefit from therapeutic vaccination. (PMID:19440709)
- ANTXR1 does not use an adaptor to bind the cytoskeleton. This peptide orders actin filaments into arrays, demonstrating an actin bundling activity that is novel for a membrane protein (PMID:19817382)
- actin was also found to be essential for efficient heptamerization of anthrax toxin PA, but only when bound to one of its 2 receptors, TEM8 (PMID:20221438)
- the crystal structure of the TEM8 extracellular vWA domain at 1.7 A resolution. (PMID:20585457)
- Data show that the two different PA oligomers are equally stabilized by ANTXR interactions. (PMID:21079738)
- studies reveal that TEM8 exists in different forms at the cell surface, a structure dependent on interactions with components of the actin cytoskeleton (PMID:21129411)
- Results describe the expression, purification and crystallization of human anthrax toxin receptor 1 vWA domain to 1.8 A resolution from a single crystal. (PMID:21206026)
- The copy number of CEA and TEM-8 mRNA, as detected by a real-time quantitative PCR, appears to be a promising marker for evaluating the risk of tumor spread. (PMID:21573768)
- postulate that the developmentally controlled expression of TEM8 modulates endothelial cell response to canonical Wnt signaling to regulate vessel patterning and density (PMID:21829615)
- TEM8 was expressed at a higher level in the stroma adjacent to the triple-negative breast cancer in all cases, with focal immunoreactive areas within the tumor. (PMID:21965755)
- TEM8.1 expression in breast cancer cells confers a more aggressive, proangiogenic phenotype. (PMID:22085271)
- An acidic region in the cytosolic tail of ANTXR1 decreases actin association, sending a signal that prevents binding of ANTXR1 to the protective antigen and providing evidence that cytoskeletal dynamics regulate ANTXR1 function. (PMID:22303962)
- Disruption of Tem8 results in impaired growth of human tumor xenografts of diverse origin including melanoma, breast, colon, and lung cancer. (PMID:22340594)
- Two new splice variants, one encoding a membrane-bound form of the receptor and the other secreted, which we have designated V4 and V5 (the latter being the only variant expressed in the prostate). (PMID:22912819)
- Mutations affecting ANTXR1 function are responsible for GAPO syndrome’s characteristic generalized defect in extracellular-matrix homeostasis. (PMID:23602711)
- There is an attenuation of ANTXR1 expression post-infection which may be a protective mechanism that has evolved to prevent reinfection. (PMID:23607659)
- High ANTXR1 accelerates breast tumor growth and lung metastasis. (PMID:23832666)
- ANTXR2 is expressed by human uterine smooth muscle cell and appears important for normal human uterine smooth muscle cell viability, migration and contractility. (PMID:24060446)
- TEM8-targeted siRNAs also offered significant protection against lethal toxin in human macrophage-like cells. (PMID:24742682)
- These studies expand the allelic spectrum in this rare condition and potentially provide insight into the role of ANTXR1 in the regulation of the extracellular matrix. (PMID:25045128)
- In the absence of any N-linked glycans, TEM8 fails to fold correctly and is recognized by the ER quality control machinery. (PMID:25781883)
- TEM8 may be differentially expressed between wound types and loss of this molecule impacts HaCaT growth and migration, potentially implicating this molecule as a factor involved in successful progression of wound healing. (PMID:26677171)
- Findings suggest that down-regulation of tumor endothelial marker 8 play an important role in the inhibition of tumorigenesis and development of osteosarcoma. (PMID:26996335)
- expression does not affect cytotoxicity to anthrax toxin (PMID:27170489)
- Consistent with experimental study, computational results indicate the metal ion in TEM8 contributes significantly to the binding affinity, and anthrax protective antigen-TEM8 binding is more favorable in the presence of Mg(2+) than Ca(2+) . (PMID:28437008)
- These studies identify ANTXR1, a class of receptor that is shared by a mammalian virus and a bacterial toxin, as the cellular receptor for Seneca Valley virus. (PMID:28650343)
- Novel targets ANTXR1 and RSPO2 were confirmed to be suppressed by miR-493 directly. (PMID:28651234)
- Silencing TEM8 may inhibit proliferation of XWLC05 lung cancer cells, promote cell apoptosis, arrest the cell cycle at G1 phase and decrease the migration and invasive ability. (PMID:29115620)
- Our findings implicate ANTXR1 as a candidate gene for isolated TA, suggest the involvement of specific hypomorphic alleles, and expand the previously known ANTXR1-associated phenotypes. (PMID:29436111)
- The frequency of the CC genotype of rs4527238 was observed to be high in the low HbF patient group compared to the high HbF group. (PMID:30114697)
- TEM8 is a novel receptor for uPA (PMID:30241478)
- inspection showed that MSLN (Mesothelin), ANTXR1 (TEM8), and MUC3A are the probable targets of CAR T cell therapy in gastric adenocarcinoma. (PMID:30260046)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | antxr1a | ENSDARG00000025672 |
| danio_rerio | antxr1b | ENSDARG00000074075 |
| mus_musculus | Antxr1 | ENSMUSG00000033420 |
| rattus_norvegicus | Antxr1 | ENSRNOG00000008678 |
Paralogs (2): ANTXR2 (ENSG00000163297), ANTXRL (ENSG00000274209)
Protein
Protein identifiers
Anthrax toxin receptor 1 — Q9H6X2 (reviewed: Q9H6X2)
Alternative names: Tumor endothelial marker 8
All UniProt accessions (4): A0A7P0T9B0, A0A7P0Z463, Q9H6X2, H0YC24
UniProt curated annotations — full annotation on UniProt →
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 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells. May also act as a receptor for PLAU. Upon ligand binding, stimulates the phosphorylation of EGFR and ERK1/2. (Microbial infection) Acts as a receptor for protective antigen (PA) of B.anthracis. (Microbial infection) Mediates cell entry of Seneca Valley virus (SVV) when glycosylated.
Subunit / interactions. Interacts with gelatin and type 1 collagen. Interacts with the actin cytoskeleton. (Microbial infection) Interacts (via VWFA domain) with the protective antigen (PA) of B.anthracis. Binding does not occur in the presence of calcium.
Subcellular location. Cell membrane. Cell projection. Lamellipodium membrane. Filopodium membrane.
Tissue specificity. Detected in umbilical vein endothelial cells (at protein level). Highly expressed in tumor endothelial cells.
Post-translational modifications. Glycosylated. Glycosylation is essential for Seneca Valley virus (SVV) attachment and entry. Phosphorylated upon PLAU binding.
Disease relevance. Hemangioma, capillary infantile (HCI) [MIM:602089] A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring. Disease susceptibility is associated with variants affecting the gene represented in this entry. GAPO syndrome (GAPOS) [MIM:230740] An autosomal recessive disease characterized by growth retardation, alopecia, failure of tooth eruption, and progressive optic atrophy in some patients. The disease is caused by variants affecting the gene represented in this entry.
Induction. Up-regulated in cultured angiogenic umbilical vein endothelial cells.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Prostate-specific.
Similarity. Belongs to the ATR family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H6X2-1 | 1 | yes |
| Q9H6X2-2 | 2 | |
| Q9H6X2-3 | 3 | |
| Q9H6X2-4 | 4 | |
| Q9H6X2-5 | 5, V4 | |
| Q9H6X2-6 | 6, V5 |
RefSeq proteins (4): NP_001397769, NP_060623, NP_115584, NP_444262 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002035 | VWF_A | Domain |
| IPR008399 | Anthrax_toxin_rcpt_C | Domain |
| IPR008400 | Anthrax_toxin_rcpt_extracel | Domain |
| IPR017360 | Anthrax_toxin_rcpt | Family |
| IPR036465 | vWFA_dom_sf | Homologous_superfamily |
Pfam: PF00092, PF05586, PF05587
UniProt features (46 total): splice variant 9, helix 8, strand 6, region of interest 4, binding site 3, glycosylation site 3, compositionally biased region 2, topological domain 2, sequence variant 2, signal peptide 1, chain 1, modified residue 1, disulfide bond 1, transmembrane region 1, turn 1, domain 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3N2N | X-RAY DIFFRACTION | 1.8 |
| 6ADM | ELECTRON MICROSCOPY | 2.84 |
| 6ADL | ELECTRON MICROSCOPY | 3.08 |
| 6ADR | ELECTRON MICROSCOPY | 3.38 |
| 6CX1 | ELECTRON MICROSCOPY | 3.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H6X2-F1 | 72.76 | 0.38 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 52; 54; 118
Post-translational modifications (1): 362
Disulfide bonds (1): 39–220
Glycosylation sites (3): 166, 184, 262
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5210891 | Uptake and function of anthrax toxins |
MSigDB gene sets: 870 (showing top):
PID_FANCONI_PATHWAY, GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_RNA_TEMPLATED_DNA_BIOSYNTHETIC_PROCESS, GOBP_CHROMOSOME_ORGANIZATION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, GOBP_RESPONSE_TO_IONIZING_RADIATION, GOBP_POSITIVE_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_POSITIVE_REGULATION_OF_DNA_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, REACTOME_MEIOTIC_SYNAPSIS, GOBP_CELLULAR_RESPONSE_TO_UV
GO Biological Process (6): blood vessel development (GO:0001568), actin cytoskeleton organization (GO:0030036), substrate adhesion-dependent cell spreading (GO:0034446), positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742), negative regulation of extracellular matrix assembly (GO:1901202), epidermal growth factor receptor signaling pathway (GO:0007173)
GO Molecular Function (6): transmembrane signaling receptor activity (GO:0004888), collagen binding (GO:0005518), signaling receptor activity (GO:0038023), metal ion binding (GO:0046872), actin filament binding (GO:0051015), protein binding (GO:0005515)
GO Cellular Component (8): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), endosome membrane (GO:0010008), lamellipodium membrane (GO:0031258), filopodium membrane (GO:0031527), membrane (GO:0016020), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Uptake and actions of bacterial toxins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein-containing complex binding | 2 |
| cell projection membrane | 2 |
| vasculature development | 1 |
| anatomical structure development | 1 |
| cytoskeleton organization | 1 |
| actin filament-based process | 1 |
| cell-substrate adhesion | 1 |
| epidermal growth factor receptor signaling pathway | 1 |
| regulation of epidermal growth factor receptor signaling pathway | 1 |
| positive regulation of ERBB signaling pathway | 1 |
| extracellular matrix assembly | 1 |
| regulation of extracellular matrix assembly | 1 |
| negative regulation of extracellular matrix organization | 1 |
| ERBB signaling pathway | 1 |
| signaling receptor activity | 1 |
| molecular transducer activity | 1 |
| cation binding | 1 |
| actin binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| lamellipodium | 1 |
| leading edge membrane | 1 |
| filopodium | 1 |
Protein interactions and networks
STRING
1758 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANTXR1 | LRP6 | O75581 | 814 |
| ANTXR1 | VWF | P04275 | 809 |
| ANTXR1 | KDR | P35968 | 745 |
| ANTXR1 | FURIN | P09958 | 741 |
| ANTXR1 | DUSP5 | Q16690 | 557 |
| ANTXR1 | DKK2 | Q9UBU2 | 547 |
| ANTXR1 | FZD1 | Q9UP38 | 546 |
| ANTXR1 | PLXDC1 | Q8IUK5 | 544 |
| ANTXR1 | FLT1 | P16057 | 537 |
| ANTXR1 | PI4K2A | Q9BTU6 | 516 |
| ANTXR1 | CD248 | Q9HCU0 | 507 |
| ANTXR1 | SOST | Q9BQB4 | 496 |
| ANTXR1 | PTH1R | Q03431 | 490 |
| ANTXR1 | LRP5 | O75197 | 475 |
| ANTXR1 | OR8J1 | Q8NGP2 | 470 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LMO1 | ZBTB43 | psi-mi:“MI:0914”(association) | 0.830 |
| PRMT2 | SAMD1 | psi-mi:“MI:0914”(association) | 0.640 |
| STX12 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| ANTXR1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| IL13RA2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| FCGRT | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| SPACA1 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| OCLN | DNAJC13 | psi-mi:“MI:0914”(association) | 0.530 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| SPSB2 | ARHGEF10 | psi-mi:“MI:0914”(association) | 0.530 |
| ANTXR1 | WFS1 | psi-mi:“MI:0914”(association) | 0.530 |
| ANTXR1 | PCOLCE | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRP6 | ANTXR1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Ppp1cb | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| Bsdc1 | SSB | psi-mi:“MI:0914”(association) | 0.350 |
| GJB2 | SNX3 | psi-mi:“MI:0914”(association) | 0.350 |
| MYO19 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| KLF8 | psi-mi:“MI:0914”(association) | 0.350 | |
| SYN1 | LUC7L3 | psi-mi:“MI:0914”(association) | 0.350 |
| FLNA | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Sidt2 | PRSS1 | psi-mi:“MI:0914”(association) | 0.350 |
| Tecpr2 | PUF60 | psi-mi:“MI:0914”(association) | 0.350 |
| MYH9 | NAP1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| MYH9 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (213): ANTXR1 (Affinity Capture-MS), TUBB3 (Affinity Capture-MS), RSAD1 (Affinity Capture-MS), CA11 (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), POTEF (Affinity Capture-MS), TUBB8 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), KANK2 (Affinity Capture-MS), RICTOR (Affinity Capture-MS), LRP11 (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), TUBA4A (Affinity Capture-MS), TUBA1A (Affinity Capture-MS), PC (Affinity Capture-MS)
ESM2 similar proteins: A1XQX1, A1XQX3, A1XQY0, A8WGA3, C6K2K4, D0PRN2, D0PRN4, D4A1J9, E9PUN2, O13097, O42596, O73612, O73874, P0DI97, P52795, P52796, P58400, P58401, P98172, Q01974, Q0PMD2, Q17QD6, Q28142, Q28143, Q460M5, Q63373, Q63376, Q6NW40, Q6PCX7, Q6PFE7, Q7TQ33, Q80TG9, Q8BNJ6, Q8BXA0, Q8C985, Q8IYR6, Q8NC67, Q91590, Q96B86, Q96NI6
Diamond homologs: A6NF34, P58335, Q0PMD2, Q4R7B7, Q6DFX2, Q8BVM2, Q9CZ52, Q9H6X2
SIGNOR signaling
0 interactions.
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 4 cancer types — LUNG, MEL, STAD, UTUC.
Clinical variants and AI predictions
ClinVar
4402 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 98 |
| Likely pathogenic | 52 |
| Uncertain significance | 2294 |
| Likely benign | 1591 |
| Benign | 161 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1069016 | NM_001184.4(ATR):c.5851C>T (p.Arg1951Ter) | Pathogenic |
| 1072254 | NM_001184.4(ATR):c.4915_4918dup (p.Thr1640fs) | Pathogenic |
| 1072974 | NC_000003.11:g.(?142272059)(142275427_?)del | Pathogenic |
| 1076365 | NM_001184.4(ATR):c.529C>T (p.Arg177Ter) | Pathogenic |
| 1076685 | NM_001184.4(ATR):c.5563del (p.His1855fs) | Pathogenic |
| 1076770 | NM_001184.4(ATR):c.3402dup (p.Asn1135Ter) | Pathogenic |
| 1357123 | NC_000003.12:g.142536202del | Pathogenic |
| 1372183 | NM_001184.4(ATR):c.6836dup (p.Asn2279fs) | Pathogenic |
| 1376891 | NM_001184.4(ATR):c.5656C>T (p.Arg1886Ter) | Pathogenic |
| 1378337 | NM_001184.4(ATR):c.5786_5787insCTAGAAAG (p.Arg1929delinsSerTer) | Pathogenic |
| 1417890 | NM_001184.4(ATR):c.5870_5877dup (p.Ala1960fs) | Pathogenic |
| 1421134 | NM_001184.4(ATR):c.3567_3568dup (p.Glu1190fs) | Pathogenic |
| 1423201 | NM_001184.4(ATR):c.4896dup (p.Leu1633fs) | Pathogenic |
| 1423837 | NM_001184.4(ATR):c.2593_2594dup (p.Leu865_Lys866insTer) | Pathogenic |
| 1434427 | NM_001184.4(ATR):c.5218dup (p.Val1740fs) | Pathogenic |
| 1444557 | NM_001184.4(ATR):c.392T>A (p.Leu131Ter) | Pathogenic |
| 1452399 | NM_001184.4(ATR):c.6022C>T (p.Arg2008Ter) | Pathogenic |
| 1453489 | NM_001184.4(ATR):c.5679del (p.Tyr1894fs) | Pathogenic |
| 1453747 | NM_001184.4(ATR):c.3856C>T (p.Gln1286Ter) | Pathogenic |
| 1454309 | NM_001184.4(ATR):c.1885dup (p.Ser629fs) | Pathogenic |
| 1458489 | NM_001184.4(ATR):c.7550_7553dup (p.Asn2518delinsLysTer) | Pathogenic |
| 156536 | NM_001184.4(ATR):c.3477G>T (p.Met1159Ile) | Pathogenic |
| 1897758 | NM_001184.4(ATR):c.1953G>A (p.Trp651Ter) | Pathogenic |
| 1906193 | NM_001184.4(ATR):c.5029C>T (p.Gln1677Ter) | Pathogenic |
| 1970626 | NM_001184.4(ATR):c.5863dup (p.Leu1955fs) | Pathogenic |
| 2007236 | NM_001184.4(ATR):c.4912C>T (p.Gln1638Ter) | Pathogenic |
| 2022356 | NM_001184.4(ATR):c.2137C>T (p.Gln713Ter) | Pathogenic |
| 2039249 | NM_001184.4(ATR):c.1492C>T (p.Gln498Ter) | Pathogenic |
| 2043590 | NM_001184.4(ATR):c.6463G>T (p.Glu2155Ter) | Pathogenic |
| 2044496 | NM_001184.4(ATR):c.4507C>T (p.Arg1503Ter) | Pathogenic |
SpliceAI
10456 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:69013652:G:GG | donor_gain | 1.0000 |
| 2:69038925:A:T | donor_gain | 1.0000 |
| 2:69040042:A:AG | acceptor_gain | 1.0000 |
| 2:69040043:G:GG | acceptor_gain | 1.0000 |
| 2:69044740:A:AG | acceptor_gain | 1.0000 |
| 2:69044740:A:AT | acceptor_loss | 1.0000 |
| 2:69044741:G:GA | acceptor_gain | 1.0000 |
| 2:69044741:G:GT | acceptor_loss | 1.0000 |
| 2:69044815:T:G | donor_loss | 1.0000 |
| 2:69070645:A:AG | acceptor_gain | 1.0000 |
| 2:69070646:G:GG | acceptor_gain | 1.0000 |
| 2:69070646:GA:G | acceptor_gain | 1.0000 |
| 2:69077397:T:A | acceptor_gain | 1.0000 |
| 2:69089501:GAAA:G | donor_gain | 1.0000 |
| 2:69090916:GGAG:G | donor_gain | 1.0000 |
| 2:69090917:GAGG:G | donor_gain | 1.0000 |
| 2:69102835:A:AG | acceptor_gain | 1.0000 |
| 2:69102836:TTTCA:T | acceptor_loss | 1.0000 |
| 2:69102837:TTCA:T | acceptor_loss | 1.0000 |
| 2:69102838:TCA:T | acceptor_loss | 1.0000 |
| 2:69102839:CAG:C | acceptor_gain | 1.0000 |
| 2:69102840:A:AG | acceptor_gain | 1.0000 |
| 2:69102840:AGA:A | acceptor_gain | 1.0000 |
| 2:69102841:G:C | acceptor_gain | 1.0000 |
| 2:69102841:G:GC | acceptor_gain | 1.0000 |
| 2:69102841:GA:G | acceptor_gain | 1.0000 |
| 2:69102841:GAGT:G | acceptor_gain | 1.0000 |
| 2:69102841:GAGTC:G | acceptor_gain | 1.0000 |
| 2:69102937:CTCA:C | donor_gain | 1.0000 |
| 2:69102941:G:GG | donor_gain | 1.0000 |
AlphaMissense
3669 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:69013614:T:C | C39R | 1.000 |
| 2:69013616:C:G | C39W | 1.000 |
| 2:69013633:T:C | L45P | 1.000 |
| 2:69013647:G:C | D50H | 1.000 |
| 2:69013648:A:C | D50A | 1.000 |
| 2:69013648:A:T | D50V | 1.000 |
| 2:69040066:T:A | W59R | 1.000 |
| 2:69040066:T:C | W59R | 1.000 |
| 2:69040068:G:C | W59C | 1.000 |
| 2:69040068:G:T | W59C | 1.000 |
| 2:69044758:T:C | S81P | 1.000 |
| 2:69044770:T:C | F85L | 1.000 |
| 2:69044772:C:A | F85L | 1.000 |
| 2:69044772:C:G | F85L | 1.000 |
| 2:69070676:T:C | L109P | 1.000 |
| 2:69070717:G:A | G123R | 1.000 |
| 2:69070717:G:C | G123R | 1.000 |
| 2:69070718:G:A | G123E | 1.000 |
| 2:69073049:C:A | A147D | 1.000 |
| 2:69073052:T:C | L148S | 1.000 |
| 2:69073058:A:T | D150V | 1.000 |
| 2:69073059:T:A | D150E | 1.000 |
| 2:69073059:T:G | D150E | 1.000 |
| 2:69073061:G:A | G151E | 1.000 |
| 2:69073061:G:T | G151V | 1.000 |
| 2:69075626:T:C | C177R | 1.000 |
| 2:69075627:G:A | C177Y | 1.000 |
| 2:69075628:T:G | C177W | 1.000 |
| 2:69075630:T:A | V178D | 1.000 |
| 2:69075632:G:C | G179R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000008474 (2:69166000 T>C), RS1000017952 (2:69084725 G>A,T), RS1000090163 (2:69213088 T>G), RS1000123026 (2:69059174 A>G), RS1000130170 (2:69089333 C>T), RS1000147298 (2:69149072 T>C), RS1000149572 (2:69207540 G>C,T), RS1000152992 (2:69077756 C>T), RS1000164337 (2:69233288 C>A), RS1000181165 (2:69222851 C>A), RS1000199133 (2:69171740 A>G), RS1000205696 (2:69056094 A>G), RS1000205949 (2:69090749 A>G), RS1000237211 (2:69177273 A>G), RS1000237862 (2:69059470 C>T)
Disease associations
OMIM: gene MIM:606410 | disease phenotypes: MIM:210600, MIM:614564, MIM:230740, MIM:600057, MIM:602089, MIM:114480, MIM:122470
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| GAPO syndrome | Definitive | Autosomal recessive |
| Seckel syndrome 1 | Definitive | Autosomal recessive |
| sarcoma | Moderate | Autosomal dominant |
| familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | Moderate | Autosomal dominant |
| Seckel syndrome | Supportive | Autosomal recessive |
| capillary infantile hemangioma | Limited | Autosomal dominant |
| familial prostate carcinoma | Limited | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| GAPO syndrome | Definitive | AR |
Mondo (15): Seckel syndrome 1 (MONDO:0008869), familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome (MONDO:0013806), GAPO syndrome (MONDO:0009263), hereditary neoplastic syndrome (MONDO:0015356), bladder exstrophy-epispadias-cloacal exstrophy complex (MONDO:0700039), capillary infantile hemangioma (MONDO:0011191), hereditary breast carcinoma (MONDO:0016419), Cornelia de Lange syndrome 1 (MONDO:0007387), hereditary breast ovarian cancer syndrome (MONDO:0003582), ATR-X-related syndrome (MONDO:0016980), Seckel syndrome (MONDO:0019342), breast cancer (MONDO:0007254), microcephaly (MONDO:0001149), familial prostate carcinoma (MONDO:0023122), sarcoma (MONDO:0005089)
Orphanet (12): Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (Orphanet:313846), Seckel syndrome (Orphanet:808), GAPO syndrome (Orphanet:2067), Inherited cancer-predisposing syndrome (Orphanet:140162), Classic bladder exstrophy (Orphanet:93930), Hereditary breast cancer (Orphanet:227535), Cornelia de Lange syndrome (Orphanet:199), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Microcephalic primordial dwarfism (Orphanet:324761), NON RARE IN EUROPE: Infantile capillary hemangioma (Orphanet:464293), OBSOLETE: Familial capillary hemangioma (Orphanet:91415), OBSOLETE: ATR-X-related syndrome (Orphanet:263355)
HPO phenotypes
102 total (30 of 102 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000135 | Hypogonadism |
| HP:0000141 | Amenorrhea |
| HP:0000174 | Abnormal palate morphology |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000232 | Everted lower lip vermilion |
| HP:0000260 | Wide anterior fontanel |
| HP:0000274 | Small face |
| HP:0000286 | Epicanthus |
| HP:0000303 | Mandibular prognathia |
| HP:0000316 | Hypertelorism |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0000337 | Broad forehead |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000411 | Protruding ear |
| HP:0000453 | Choanal atresia |
| HP:0000463 | Anteverted nares |
| HP:0000485 | Megalocornea |
| HP:0000486 | Strabismus |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000545 | Myopia |
| HP:0000563 | Keratoconus |
| HP:0000565 | Esotropia |
| HP:0000586 | Shallow orbits |
GWAS associations
39 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001263_23 | Height | 1.000000e-08 |
| GCST004601_47 | Red blood cell count | 9.000000e-25 |
| GCST004619_131 | Reticulocyte fraction of red cells | 3.000000e-09 |
| GCST004622_165 | Reticulocyte count | 7.000000e-16 |
| GCST005170_39 | Intraocular pressure | 2.000000e-13 |
| GCST005580_240 | Intraocular pressure | 9.000000e-17 |
| GCST005580_65 | Intraocular pressure | 5.000000e-12 |
| GCST005993_70 | Mean corpuscular hemoglobin | 1.000000e-35 |
| GCST005996_57 | Red blood cell count | 5.000000e-09 |
| GCST006011_101 | Mean corpuscular volume | 2.000000e-44 |
| GCST006394_46 | Intraocular pressure | 3.000000e-11 |
| GCST006395_6 | Glaucoma | 2.000000e-06 |
| GCST006412_24 | Intraocular pressure | 7.000000e-13 |
| GCST006804_192 | Red cell distribution width | 3.000000e-08 |
| GCST007600_69 | Alzheimer’s disease | 4.000000e-06 |
| GCST008839_187 | Height | 9.000000e-09 |
| GCST008839_416 | Height | 3.000000e-10 |
| GCST009725_42 | Intraocular pressure | 2.000000e-11 |
| GCST012245_5 | Periodontitis (stage III/IV grade C) | 3.000000e-06 |
| GCST012365_3 | Orofacial cleft x maternal periconceptional multivitamin use interaction (1df) | 1.000000e-06 |
| GCST90000025_751 | Appendicular lean mass | 3.000000e-09 |
| GCST90002381_190 | Eosinophil count | 6.000000e-10 |
| GCST90002386_563 | High light scatter reticulocyte percentage of red cells | 5.000000e-18 |
| GCST90002390_169 | Mean corpuscular hemoglobin | 3.000000e-19 |
| GCST90002390_170 | Mean corpuscular hemoglobin | 2.000000e-10 |
| GCST90002390_171 | Mean corpuscular hemoglobin | 2.000000e-56 |
| GCST90002392_315 | Mean corpuscular volume | 9.000000e-26 |
| GCST90002392_316 | Mean corpuscular volume | 8.000000e-11 |
| GCST90002392_317 | Mean corpuscular volume | 6.000000e-69 |
| GCST90002396_254 | Mean reticulocyte volume | 8.000000e-19 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0007986 | reticulocyte count |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0009188 | Red cell distribution width |
| EFO:0009116 | vitamin supplement exposure measurement |
| EFO:0004980 | appendicular lean mass |
| EFO:0004842 | eosinophil count |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (7)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D061325 | Hereditary Breast and Ovarian Cancer Syndrome | C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431 |
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
| D009386 | Neoplastic Syndromes, Hereditary | C04.700; C16.320.700 |
| D012509 | Sarcoma | C04.557.450.795 |
| C562840 | Breast Cancer, Familial (supp.) | |
| C535642 | Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy (supp.) | |
| C535860 | Hemangioma, capillary infantile (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
82 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, increases expression | 4 |
| methylmercuric chloride | affects cotreatment, increases expression | 3 |
| bisphenol A | affects expression, affects cotreatment, increases methylation, decreases expression | 3 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Tetrachlorodibenzodioxin | decreases expression | 3 |
| Tretinoin | increases expression, decreases expression | 3 |
| sodium arsenite | decreases expression, increases abundance | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression, affects cotreatment | 2 |
| Arsenic | increases abundance, affects methylation, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Progesterone | affects cotreatment, increases expression | 2 |
| Rotenone | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Valproic Acid | increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| propionaldehyde | increases expression | 1 |
| terbufos | increases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| chloroquine diphosphate | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1JK | Abcam HeLa ANTXR1 KO | Cancer cell line | Female |
| CVCL_SC63 | HAP1 ANTXR1 (-) 1 | Cancer cell line | Male |
| CVCL_SC64 | HAP1 ANTXR1 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
598 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03144206 | PHASE4 | ACTIVE_NOT_RECRUITING | Hyperbaric Oxygen Therapy for Soft Tissue Sarcoma Pilot Study |
| NCT03244020 | PHASE4 | ENROLLING_BY_INVITATION | LMWH vs Aspirin for VTE Prophylaxis in Orthopaedic Oncology |
| NCT04033081 | PHASE4 | ACTIVE_NOT_RECRUITING | Registry of Sarcoma Patients Treated With Permanently Implantable LDR CivaSheet® |
| NCT02562170 | PHASE4 | COMPLETED | Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study |
| NCT00014638 | PHASE4 | COMPLETED | Letrozole in Treating Postmenopausal Women With Metastatic Breast Cancer |
| NCT00022386 | PHASE4 | COMPLETED | Epoetin Alfa in Treating Chemotherapy-Related Anemia in Women With Stage I, Stage II, or Stage III Breast Cancer |
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00030758 | PHASE4 | UNKNOWN | Filgrastim or Pegfilgrastim in Preventing Neutropenia in Women Receiving Chemotherapy Following Surgery for Breast Cancer |
| NCT00082277 | PHASE4 | COMPLETED | Anastrozole Biphosphonate Study in Postmenopausal Women With Hormone-Receptor-Positive Early Breast Cancer |
| NCT00087620 | PHASE4 | TERMINATED | A Study of Capecitabine In Combination With Docetaxel vs Capecitabine Followed by Docetaxel As First-Line Treatment For Metastatic Breast Cancer |
| NCT00121836 | PHASE4 | COMPLETED | A Study of Xeloda (Capecitabine) in Women With HER2-Negative Metastatic Breast Cancer |
| NCT00126360 | PHASE4 | UNKNOWN | STARS Breast Trial (Study of Anastrozole and Radiotherapy Sequencing Pilot) |
| NCT00127933 | PHASE4 | COMPLETED | XeNA Study - A Study of Xeloda (Capecitabine) in Patients With Invasive Breast Cancer |
| NCT00128297 | PHASE4 | COMPLETED | Pamidronate Administration in Breast Cancer Patients With Bone Metastases |
| NCT00129597 | PHASE4 | UNKNOWN | Effect of Ketalar to Prevent Postoperative Chronic Pain After Mastectomy |
| NCT00131170 | PHASE4 | COMPLETED | Paravertebral Block for Breast Surgery |
| NCT00156039 | PHASE4 | COMPLETED | Randomized Trial of Follow-up Strategies in Breast Cancer |
| NCT00160901 | PHASE4 | COMPLETED | Complementary Therapies for the Reduction of Side Effects During Chemotherapy for Breast Cancer |
| NCT00171847 | PHASE4 | TERMINATED | Study of the Efficacy and Safety of Letrozole Combined With Trastuzumab in Patients With Metastatic Breast Cancer |
| NCT00176046 | PHASE4 | COMPLETED | Mistletoe Extract in Early or Advanced Breast Cancer, A Feasibility Study |
| NCT00190697 | PHASE4 | COMPLETED | A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment |
| NCT00234195 | PHASE4 | COMPLETED | Wellbutrin XL, Major Depressive Disorder and Breast Cancer |
| NCT00237133 | PHASE4 | COMPLETED | Treatment of Locally Advanced Breast Cancer With Letrozole in Postmenopausal Women |
| NCT00237224 | PHASE4 | COMPLETED | Open Label Study of Postmenopausal Women With ER and /or PgR Positive Breast Cancer Treated With Letrozole |
| NCT00241046 | PHASE4 | TERMINATED | Letrozole in the Treatment of 1st and 2nd Line Hormone Receptor Positive Breast Cancer: Pre-therapeutic Risk Assessment |
| NCT00277160 | PHASE4 | COMPLETED | A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer |
| NCT00323479 | PHASE4 | COMPLETED | Arthralgia During Anastrozole Therapy for Breast Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00356148 | PHASE4 | COMPLETED | The Efficacy of Prophylactic Antibiotic Administration During Breast Cancer Surgery in Overweight Patients. |
| NCT00372476 | PHASE4 | COMPLETED | Efficacy and Safety of Imatinib and Vinorelbine in Patients With Advanced Breast Cancer |
| NCT00413491 | PHASE4 | UNKNOWN | National Screening in Denmark With MR Versus Mammography and Ultrasound of Women With BRCA1 or BRCA2 Mutations |
| NCT00484614 | PHASE4 | UNKNOWN | Study the Role of Positron Emission Mammography in Pre-surgical Planning for Breast Cancer |
| NCT00485953 | PHASE4 | COMPLETED | Effect of Bisphosphonate on Bone Loss in Postmenopausal Women With Breast Cancer Initiating Aromatase Inhibitor Therapy |
| NCT00496678 | PHASE4 | COMPLETED | Trial of Patient Navigation-Activation |
| NCT00531973 | PHASE4 | UNKNOWN | A Study of Liposomal Doxorubicin in Women With Breast Cancer Exploiting Tissue Doppler Imaging |
| NCT00537771 | PHASE4 | COMPLETED | Liver Safety Under Upfront Arimidex vs Tamoxifen |
| NCT00544986 | PHASE4 | COMPLETED | A Prospective,Open-label Study of Anastrozole in Post-menopausal Women With Hormone Sensitive Advanced Breast Cancer |
| NCT00613275 | PHASE4 | COMPLETED | Patient Navigation in the Safety Net:CONNECTeDD |
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Related Atlas pages
- Associated diseases: GAPO syndrome, capillary infantile hemangioma, Seckel syndrome 1, familial prostate carcinoma, sarcoma, familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ATR-X-related syndrome, bladder exstrophy-epispadias-cloacal exstrophy complex, capillary infantile hemangioma, Cornelia de Lange syndrome 1, endometrial cancer, endometrial carcinoma, familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, familial prostate carcinoma, GAPO syndrome, glaucoma, hereditary breast carcinoma, hereditary breast ovarian cancer syndrome, hereditary neoplastic syndrome, open-angle glaucoma, periodontitis, sarcoma, Seckel syndrome, Seckel syndrome 1