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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ANTXR1 Gene

protein-coding   GIFtS: 66
GCID: GC02P069152

Anthrax Toxin Receptor 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Anthrax Toxin Receptor 11 2     Tumor Endothelial Marker 8 Precursor1
ATR2 3 5     2310008J16Rik2
TEM82 3 5     2810405N18Rik2
Tumor Endothelial Marker 82 3     GAPO2
Anthrax Toxin Receptor1     

External Ids:    HGNC: 210141   Entrez Gene: 841682   Ensembl: ENSG000001696047   OMIM: 6064105   UniProtKB: Q9H6X23   

Export aliases for ANTXR1 gene to outside databases

Previous GC identifers: GC02P069198 GC02P069215 GC02P068977


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ANTXR1 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 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. (provided by RefSeq, Oct 2008)

GeneCards Summary for ANTXR1 Gene: 
ANTXR1 (anthrax toxin receptor 1) is a protein-coding gene. Diseases associated with ANTXR1 include inhalational anthrax, and anthrax disease, and among its related super-pathways are p53 Signaling. GO annotations related to this gene include transmembrane signaling receptor activity and collagen binding. An important paralog of this gene is ANTXRL.

UniProtKB/Swiss-Prot: ANTR1_HUMAN, Q9H6X2
Function: Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the
actin cytoskeleton. 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

summary for ANTXR1 Gene:
ATR (Ataxia telangiectasia and Rad3 related) and ATM (Ataxia telangiectasia mutated) are closely related
kinases that are activated by DNA damage. These serine-threonine protein kinases are part of the
phosphatidylinositol 3' kinase-like kinase (PIKK) family. Upon recruitment by the DNA damage binding
proteins/complexes (ATRIP for ATR; MRN for ATM), ATM/ATR initiate the DNA damage checkpoint by
phosphorylating a number of key proteins. Once activated, the checkpoint leads to cell cycle arrest and
either DNA repair or apoptosis. ATM is activated by double stranded breaks and phosphorylates Chk2, whilst
ATR is activated by single strand breaks and phosphorylates Chk1.

Gene Wiki entry for ANTXR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANTXR1 gene promoter:
         Elk-1   POU2F1   p53   POU2F1a   FOXD1   STAT5A   LCR-F1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANTXR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANTXR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANTXR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.1   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p13.1

ANTXR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANTXR1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P069152:  view genomic region     (about GC identifiers)

Start:
69,240,276 bp from pter      End:
69,476,459 bp from pter
Size:
236,184 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ANTR1_HUMAN, Q9H6X2 (See protein sequence)
Recommended Name: Anthrax toxin receptor 1 precursor  
Size: 564 amino acids; 62789 Da
Subunit: Interacts with gelatin and type 1 collagen. Interacts with the actin cytoskeleton. Binds to the
protective antigen (PA) of Bacillus anthracis. Binding does not occur in the presence of calcium
Subcellular location: Cell membrane; Single-pass type I membrane protein. Cell projection, lamellipodium membrane;
Single-pass type I membrane protein. Cell projection, filopodium membrane; Single-pass type I membrane protein.
Note=At the membrane of lamellipodia and at the tip of actin-enriched filopodia. Colocalizes with actin at the
base of lamellipodia
Sequence caution: Sequence=BAA91707.1; Type=Miscellaneous discrepancy; Note=Erroneous initiation (Translation
N-terminally extended) due to a conflict with the genome, including a frameshift; Sequence=BAB15128.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for ANTXR1:
3N2N (3D)    
Secondary accessions: A8K7U8 Q4ZFV6 Q53QD8 Q96P02 Q9NVP3
Alternative splicing: 4 isoforms:  Q9H6X2-1   Q9H6X2-2   Q9H6X2-3   Q9H6X2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANTXR1: NX_Q9H6X2

Explore proteomics data for ANTXR1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H6X2

  • ANTXR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ANTXR1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_060623.2  NP_115584.1  NP_444262.1  

    ENSEMBL proteins: 
     ENSP00000301945   ENSP00000387058   ENSP00000386494   ENSP00000430776  

    Human Recombinant Protein Products for ANTXR1: 
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    Novus Biologicals ANTXR1 Proteins
    Novus Biologicals ANTXR1 Lysates
    Sino Biological Recombinant Protein for ANTXR1
    Sino Biological Cell Lysate for ANTXR1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ANTXR1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--
    GO:0031258lamellipodium membrane IDA16762926
    GO:0031527filopodium membrane IDA16762926

    ANTXR1 for ontologies           About GeneDecksing



    ANTXR1 Antibody Products: 
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    Novus Biologicals ANTXR1 Antibodies
    Abcam antibodies for ANTXR1
    Cloud-Clone Corp. Antibodies for ANTXR1 
    ThermoFisher Antibodies for ANTXR1
    LSBio Antibodies in human, mouse, rat for ANTXR1 

    Assay Products for ANTXR1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ANTXR1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ANTXR1 
    Cloud-Clone Corp. CLIAs for ANTXR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR008400 Anthrax_toxin_rcpt_extracel
     IPR017360 Anthrax_toxin_rcpt
     IPR008399 Anthrax_toxin_rcpt_C
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q9H6X2

    ProtoNet protein and cluster: Q9H6X2

    2 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB008399 Anthrax receptor


    UniProtKB/Swiss-Prot: ANTR1_HUMAN, Q9H6X2
    Domain: Binding to PA occurs through the VWA domain
    Similarity: Belongs to the ATR family
    Similarity: Contains 1 VWFA domain


    ANTXR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANTR1_HUMAN, Q9H6X2
    Function: Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the
    actin cytoskeleton. 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
    Induction: Up-regulated in cultured angiogenic umbilical vein endothelial cells

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0004888transmembrane signaling receptor activity IDA16762926
    GO:0005515protein binding IPI14507921
    GO:0005518collagen binding IDA16762926
    GO:0046872metal ion binding IEA--
         
    ANTXR1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ANTXR1:
     Increased circadian period len 

         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Antxr1):
     cardiovascular system  cellular  craniofacial  endocrine/exocrine gland  immune system 
     mortality/aging  no phenotypic analysis  other  reproductive system  skeleton 
     tumorigenesis 

    ANTXR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ANTXR1: Antxr1tm1.2Bstc Antxr1tm1.2Lepp

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ANTXR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ANTXR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ANTXR1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ANTXR1 

    miRNA
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    8/85 QIAGEN miScript miRNA Assays for microRNAs that regulate ANTXR1 (see all 85):
    hsa-miR-194* hsa-miR-579 hsa-miR-3194-5p hsa-miR-1321 hsa-miR-300 hsa-miR-4272 hsa-miR-485-3p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidANTXR1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): ANTXR1 (NM_032208)
    Sino Biological Human cDNA Clone for ANTXR1
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                         Customized lentivirus expression plasmids for stable overexpression of ANTXR1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANTXR1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ANTXR1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1p53 Pathway
    p53 Pathway0.38
    2Cellular roles of Anthrax toxin
    Cellular roles of Anthrax toxin

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Tocris Bioscience Pathway for ANTXR1
        Apoptosis Pathway

    1 BioSystems Pathway for ANTXR1
        Cellular roles of Anthrax toxin

    1 Sino Biological Pathway for ANTXR1 
        p53 Pathway


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ANTXR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/9 Interacting proteins for ANTXR1 (Q9H6X21, 3 ENSP000003019454) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRP6O755811, 3, ENSP000002613494EBI-905643,EBI-910915 I2D: score=2 STRING: ENSP00000261349
    BRCA1P383983, ENSP000003502834I2D: score=1 STRING: ENSP00000350283
    BCL2L1Q078173, ENSP000003025644I2D: score=1 STRING: ENSP00000302564
    EGFRP005333I2D: score=1 
    ANTXR2ENSP000003061854STRING: ENSP00000306185
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0022414reproductive process IEA--
    GO:0031532actin cytoskeleton reorganization IDA16762926
    GO:0034446substrate adhesion-dependent cell spreading IDA16762926

    ANTXR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ANTXR1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ANTXR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KU 55933Potent and selective ATM kinase inhibitor[587871-26-9]
    KU 60019Potent ATM kinase inhibitor[925701-46-8]

    1 HMDB Compound for ANTXR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about ANTXR1 / ANTR1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ANTXR1 gene (3 alternative transcripts): 
    NM_018153.3  NM_032208.2  NM_053034.2  

    Unigene Cluster for ANTXR1:

    Anthrax toxin receptor 1
    Hs.165859  [show with all ESTs]
    Unigene Representative Sequence: NM_032208
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303714(uc002sff.3 uc002sfg.3) ENST00000409829(uc002sfe.3)
    ENST00000463335(uc002sfd.2) ENST00000409349 ENST00000482235 ENST00000481119
    ENST00000497197
    miRNA
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    hsa-miR-194* hsa-miR-579 hsa-miR-3194-5p hsa-miR-1321 hsa-miR-300 hsa-miR-4272 hsa-miR-485-3p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidANTXR1 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector (see all 3): ANTXR1 (NM_032208)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANTXR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANTXR1
    Sirion Biotech Customized lentivirus for stable overexpression of ANTXR1 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANTXR1
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    Additional mRNA sequence: 

    AF090095.1 AF279145.2 AF421380.1 AK002160.1 AK025429.1 AK126783.1 AK223273.1 AK292113.1 
    AK309553.1 AL110155.1 BC012074.1 BC012475.1 JX424838.1 JX424839.1 

    23 DOTS entries:

    DT.100030836  DT.119004  DT.97775779  DT.101968313  DT.120969172  DT.309596  DT.120969200  DT.120969196 
    DT.100821866  DT.101976518  DT.100030845  DT.100821863  DT.120969213  DT.75107758  DT.95278535  DT.120969167 
    DT.120969219  DT.421219  DT.75179577  DT.91671089  DT.95125892  DT.100821867  DT.91726528 

    24/346 AceView cDNA sequences (see all 346):

    T34588 AI074648 AW515125 AI423617 BM980681 BU619327 AI401458 CF132432 
    NM_053034 CB215475 BU685479 AW118038 BM698431 BM666135 BU736182 CA447761 
    CA448221 BI092860 Z39069 AI277545 CA407229 AF421380 BM472775 BX474676 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ANTXR1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:                                                              -     -                 -     -     -                 -                 -                     
    SP2:                                                              -     -                 -     -     -                 -                                       
    SP3:                                                              -     -                 -     -     -                                                         
    SP4:                                                              -     -                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 21
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for ANTXR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ANTXR1 expression in normal human tissues (normalized intensities)      ANTXR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTATAGGAGA
    ANTXR1 Expression
    About this image


    ANTXR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Uterus (Reproductive System)
             endometrial endothelial cell   
     
     Chorion (Extraembryonic Tissues)
             chorion villus cells   
     
     Eye (Sensory Organs)
             optic nerve head astrocytes   

    See ANTXR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANTXR1

    SOURCE GeneReport for Unigene cluster: Hs.165859

    UniProtKB/Swiss-Prot: ANTR1_HUMAN, Q9H6X2
    Tissue specificity: Detected in umbilical vein endothelial cells (at protein level). Highly expressed in tumor
    endothelial cells

        SABiosciences Expression via Pathway-Focused PCR Array including ANTXR1: 
              WNT Signaling Targets in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ANTXR1 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Antxr11 , 5 anthrax toxin receptor 11, 5 87.23(n)1
    96.76(a)1
      6 (37.94 cM)5
    695381  NM_054041.21  NP_473382.11 
     871338545 
    chicken
    (Gallus gallus)
    Aves ANTXR11 anthrax toxin receptor 1 79.67(n)
    88.45(a)
      428199  XM_425758.3  XP_425758.3 
    zebrafish
    (Danio rerio)
    Actinopterygii BI867612.12   -- 76.91(n)    BI867612.1 


    ENSEMBL Gene Tree for ANTXR1 (if available)
    TreeFam Gene Tree for ANTXR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANTXR1 gene
    ANTXRL2  ANTXR22  
    3 SIMAP similar genes for ANTXR1 using alignment to 6 protein entries:     ANTR1_HUMAN (see all proteins):
    ANTXR1/NNG1 fusion    ANTXR2    ANTXRL

    ANTXR1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4864 SNPs in ANTXR1 are shown (see all 4864)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1194750401,2
    Cother169246184(+) CCATCA/GCCCTG 4 T A mis10--------
    VAR_0631464
    ----see VAR_0631462 A T mis40--------
    rs1389946681,2
    C--68986870(+) TGATG-/ATAGATGA 3 -- cds10--------
    rs106317951,2
    C--68990962(+) GTGTG-/GT/TA 
            
    TGTGT
    3 -- int11CSA 2
    rs2021651341,2
    --69010714(+) AGCAC-/TTTA  
            
    TTTAT
    3 -- int10--------
    rs106316821,2
    C--69010716(+) CACTT-/ATA   
      T
    /TATA
    TATCC
    3 -- int11CSA 2
    rs96789331,2
    C--69059267(+) gaaggA/Gaggaa 3 -- int1 trp31Minor allele frequency- G:0.00NA 2
    rs96789341,2
    C,F--69059275(+) gaaggA/Gaggaa 3 -- int1 trp31Minor allele frequency- G:0.00NA 2
    rs96789391,2
    C,F--69059283(+) gaaggA/Gaggaa 3 -- int1 trp31Minor allele frequency- G:0.00NA 2
    rs1470322631,2
    C--69082652(+) AGGTT-/GGTCAT 3 -- int10--------

    HapMap Linkage Disequilibrium report for ANTXR1 (69240276 - 69476459 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ANTXR1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1001025CNV Deletion20482838
    nsv2767CNV Insertion18451855
    esv33940CNV Loss17666407
    nsv528644CNV Loss19592680
    nsv521516CNV Loss19592680


    Human Gene Mutation Database (HGMD): ANTXR1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606410   
    OMIM disorders: 602089  
    UniProtKB/Swiss-Prot: ANTR1_HUMAN, Q9H6X2
  • 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. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • 15 diseases for ANTXR1:    About MalaCards
    inhalational anthrax    anthrax disease    inhalation anthrax    hemangioma, capillary infantile
    gingival hypertrophy    ataxia telangiectasia    endotheliitis    hemangioma
    ataxia    colorectal cancer    gingivitis    synovitis
    melanoma    breast cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for ANTXR1:
    Inhalation anthrax

    ANTXR1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for ANTXR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anthrax 90 22 12551953 (2), 20382142 (2), 16285529 (1), 16141341 (1) (see all 16)
    edema 35 1 17251181 (1)
    tumors 11.4 13 17251181 (3), 19622764 (2), 14871805 (1), 20382142 (1) (see all 8)

    Genetic Association Database (GAD): ANTXR1
    Human Genome Epidemiology (HuGE) Navigator: ANTXR1 (1 document)

    Export disorders for ANTXR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ANTXR1 gene, integrated from 9 sources (see all 68):
    (articles sorted by number of sources associating them with ANTXR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genes expressed in human tumor endothelium. (PubMed id 10947988)1, 2, 3 St Croix B....Kinzler K.W. (2000)
    2. Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. (PubMed id 12700348)1, 2, 9 Scobie H.M.... Young J.A.T. (2003)
    3. Identification of the cellular receptor for anthrax toxin. (PubMed id 11700562)1, 2, 9 Bradley K.A.... Young J.A.T. (2001)
    4. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1, 4 N'Diaye A....Haiman C.A. (2011)
    5. The structure of tumor endothelial marker 8 (TEM8) extracellular domain and implications for its receptor function for recognizing anthrax toxin. (PubMed id 20585457)1, 2 Fu S.... Rao Z. (2010)
    6. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    7. Anthrax toxin receptor 1/tumor endothelium marker 8 mediates cell spreading by coupling extracellular ligands to the actin cytoskeleton. (PubMed id 16762926)1, 2 Werner E.... Faundez V. (2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. TEM8 expression stimulates endothelial cell adhesion and migration by regulating cell-matrix interactions on collagen. (PubMed id 15777794)1, 2 Hotchkiss K.A....Terman B.I. (2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84168 HGNC: 21014 AceView: ANTXR1 Ensembl:ENSG00000169604 euGenes: HUgn84168
    ECgene: ANTXR1 H-InvDB: ANTXR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ANTXR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ANTXR1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ANTXR1 gene:
    Search GeneIP for patents involving ANTXR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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