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ANTXR2 Gene

protein-coding   GIFtS: 66
GCID: GC04M080822

Anthrax Toxin Receptor 2

  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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Anthrax Toxin Receptor 21 2     CMG-22 3
CMG22 3 5     HFS2 5
Capillary Morphogenesis Protein 21 2     ISH2
Capillary Morphogenesis Gene 2 Protein2 3     JHF2

External Ids:    HGNC: 217321   Entrez Gene: 1184292   Ensembl: ENSG000001632977   OMIM: 6080415   UniProtKB: P583353   
ORGUL members:         

Export aliases for ANTXR2 gene to outside databases

Previous GC identifers: GC04M081219 GC04M081285 GC04M081183 GC04M081045 GC04M076572


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ANTXR2 Gene:
This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it
may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and
infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Mar 2009)

GeneCards Summary for ANTXR2 Gene:
ANTXR2 (anthrax toxin receptor 2) is a protein-coding gene. Diseases associated with ANTXR2 include juvenile hyaline fibromatosis, and hyalinosis, inherited systemic. GO annotations related to this gene include receptor activity. An important paralog of this gene is ANTXRL.

UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335
Function: Necessary for cellular interactions with laminin and the extracellular matrix

Gene Wiki entry for ANTXR2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANTXR2 gene promoter:
         Nkx3-1   SRF   AP-1   p53   SRF (504 AA)   ATF-2   Nkx3-1 v1   Nkx3-1 v2   Nkx3-1 v3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANTXR2 promoter sequence
   Search Chromatin IP Primers for ANTXR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANTXR2


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

Entrez Gene cytogenetic band: 4q21.21   Ensembl cytogenetic band:  4q21.21   HGNC cytogenetic band: 4q21.3

ANTXR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANTXR2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M080822:  view genomic region     (about GC identifiers)

Start:
80,822,303 bp from pter      End:
81,046,608 bp from pter
Size:
224,306 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335 (See protein sequence)
Recommended Name: Anthrax toxin receptor 2 precursor  
Size: 489 amino acids; 53666 Da
Subunit: Binds laminin, and possibly also collagen type IV. Binds to the protective antigen (PA) of Bacillus
anthracis in a divalent cation-dependent manner, with the following preference: calcium > manganese > magnesium >
zinc. Binding of PA leads to heptamerization of the receptor-PA complex
Miscellaneous: Upon binding of the protective antigen (PA) of Bacillus anthracis the complex moves to
glycosphingolipid-rich lipid rafts, where it is internalized via a clathrin-dependent pathway. In the endosomal
membrane, at pH under 7, the complex then rearranges and forms a pore allowing the other components of anthrax
toxin to escape to the cytoplasm
Sequence caution: Sequence=AAY40907.1; Type=Erroneous gene model prediction; Sequence=BAB70976.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAD93150.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened;
4 PDB 3D structures from and Proteopedia for ANTXR2:
1SHT (3D)        1SHU (3D)        1T6B (3D)        1TZN (3D)    
Secondary accessions: Q4W5H6 Q59E98 Q5JPE9 Q86UI1 Q8N4J8 Q8NB13 Q96NC7
Alternative splicing: 4 isoforms:  P58335-1   P58335-2   P58335-3   P58335-4   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for ANTXR2: NX_P58335

Explore proteomics data for ANTXR2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys443, Lys449
  • Glycosylation2 at Asn250, Asn260
  • Modification sites at PhosphoSitePlus

  • See ANTXR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001139266.1  NP_001273709.1  NP_001273710.1  NP_477520.2  

    ENSEMBL proteins: 
     ENSP00000385575   ENSP00000413700   ENSP00000384028   ENSP00000314883   ENSP00000306185  
     ENSP00000295465  

    ANTXR2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 P58335

    ProtoNet protein and cluster: P58335

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


    UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335
    Domain: Binding to PA seems to be effected through the VWA domain
    Similarity: Belongs to the ATR family
    Similarity: Contains 1 VWFA domain


    ANTXR2 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANTR2_HUMAN, P58335
    Function: Necessary for cellular interactions with laminin and the extracellular matrix

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IEA--
    GO:0005515protein binding IPI15044490
    GO:0046872metal ion binding IEA--
         
    ANTXR2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ANTXR2:
     Decreased TP53 protein express 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Antxr2):
     cardiovascular system  cellular  immune system  mortality/aging  no phenotypic analysis 
     reproductive system 

    ANTXR2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ANTXR2: Antxr2tm1.1Jkit Antxr2tm1.2Lepp

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ANTXR2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ANTXR2

    miRNA
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    hsa-mir-186-5p (MIRT044967), hsa-mir-335-5p (MIRT017139)

    Block miRNA regulation of human, mouse, rat ANTXR2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ANTXR2 (see all 158):
    hsa-miR-579 hsa-miR-1260b hsa-miR-3921 hsa-miR-502-3p hsa-miR-3916 hsa-miR-877* hsa-miR-298 hsa-miR-642b
    SwitchGear 3'UTR luciferase reporter plasmidANTXR2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ANTXR2

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    Sino Biological Human cDNA Clone for ANTXR2
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANTXR2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ANTR2_HUMAN, P58335: Isoform 1: Cell membrane; Single-pass type I membrane protein. Note=Expressed at the cell
    surface
    ANTR2_HUMAN, P58335: Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membrane protein.
    Note=Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane
    ANTR2_HUMAN, P58335: Isoform 3: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular5
    plasma membrane5
    cytosol2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    ANTXR2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ANTXR2 About    
    See pathways by source

    SuperPathContained pathways About
    1Cellular roles of Anthrax toxin
    Cellular roles of Anthrax toxin


    1 BioSystems Pathway for ANTXR2
        Cellular roles of Anthrax toxin



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANTXR2
    Interactions:

        GeneGlobe Interaction Network for ANTXR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for ANTXR2 (P583351, 2, 3 ENSP000003061854) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3MINT-61603 I2D: score=3 
    COL4A4P534203, ENSP000003798664I2D: score=1 STRING: ENSP00000379866
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    COL4A2P085723, ENSP000003536544I2D: score=1 STRING: ENSP00000353654
    COL4A3Q019553, ENSP000003798234I2D: score=1 STRING: ENSP00000379823
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0022414reproductive process IEA--

    ANTXR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ANTXR2 (ANTR2)

    3 HMDB Compounds for ANTXR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ANTXR2 gene (4 alternative transcripts): 
    NM_001145794.1  NM_001286780.1  NM_001286781.1  NM_058172.5  

    Unigene Cluster for ANTXR2:

    Anthrax toxin receptor 2
    Hs.162963  [show with all ESTs]
    Unigene Representative Sequence: NM_058172
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000403729(uc003hly.4 uc003hlz.4 uc010ijn.3) ENST00000449651(uc003hlx.1)
    ENST00000482406 ENST00000491345 ENST00000404191 ENST00000346652 ENST00000307333
    ENST00000514959 ENST00000506286 ENST00000295465
    miRNA
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    Block miRNA regulation of human, mouse, rat ANTXR2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ANTXR2 (see all 158):
    hsa-miR-579 hsa-miR-1260b hsa-miR-3921 hsa-miR-502-3p hsa-miR-3916 hsa-miR-877* hsa-miR-298 hsa-miR-642b
    SwitchGear 3'UTR luciferase reporter plasmidANTXR2 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat ANTXR2
      QuantiFast Probe-based Assays in human, mouse, rat ANTXR2

    Additional mRNA sequence: 

    AB209913.1 AK023450.1 AK055636.1 AL110207.1 AL831848.1 AL832851.1 AY040326.1 AY233452.1 
    BC034001.1 BC042596.1 BC047345.1 BC107876.1 BC114374.1 

    14 DOTS entries:

    DT.216248  DT.121248282  DT.100819726  DT.95347012  DT.100819722  DT.211486  DT.75184103  DT.121248300 
    DT.121248306  DT.438000  DT.100819725  DT.121248290  DT.121248325  DT.97836198 

    Selected AceView cDNA sequences (see all 221):

    AI420535 AI274274 CR590529 AI433847 AI239447 CD677380 AA047290 BM992362 
    AI335830 AI435428 CB147692 AL832851 CR601853 AI669657 AA373314 BU619508 
    BF941642 CR612147 CB163917 AI074424 NM_058172 AI434624 BG235895 CB148099 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ANTXR2    About this scheme

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


    ECgene alternative splicing isoforms for ANTXR2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ANTXR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCCACACA
    ANTXR2 Expression
    About this image


    ANTXR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    ANTXR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANTXR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.162963

    UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335
    Tissue specificity: Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver,
    peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANTXR2

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ANTXR2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Antxr21 , 5 anthrax toxin receptor 21, 5 83.5(n)1
    84.8(a)1
      5 (47.77 cM)5
    719141  NM_133738.11  NP_598499.11 
     978846885 
    chicken
    (Gallus gallus)
    Aves ANTXR21 anthrax toxin receptor 2 72.59(n)
    75.63(a)
      422580  XM_420539.4  XP_420539.4 
    lizard
    (Anolis carolinensis)
    Reptilia ANTXR26
    anthrax toxin receptor 2
    62(a)
    1 ↔ 1
    GL343425.1(231463-319827)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia antxr21 anthrax toxin receptor 2 68.65(n)
    70.64(a)
      100158556  NM_001127988.1  NP_001121460.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.122512 Transcribed sequence with weak similarity to protein spP58335 (H.sapiens) CMG2_HUMAN Capillary morphogenesis protein-2 precursor (CMG-2) less 82.77(n)    CA472983.1 


    ENSEMBL Gene Tree for ANTXR2 (if available)
    TreeFam Gene Tree for ANTXR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANTXR2 gene
    ANTXRL2  ANTXR12  
    3 SIMAP similar genes for ANTXR2 using alignment to 4 protein entries:     ANTR2_HUMAN (see all proteins):
    ANTXR1/NNG1 fusion    ANTXR1    ANTXRL

    ANTXR2 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ANTXR2 (see all 2970)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0226904
    Hyaline fibromatosis syndrome (HFS)4--see VAR_0226902 C R mis40--------
    VAR_0226884
    Hyaline fibromatosis syndrome (HFS)4--see VAR_0226882 G D mis40--------
    VAR_0226924
    Hyaline fibromatosis syndrome (HFS)4--see VAR_0226922 L R mis40--------
    VAR_0226894
    Hyaline fibromatosis syndrome (HFS)4--see VAR_0226892 I T mis40--------
    VAR_0226874
    Hyaline fibromatosis syndrome (HFS)4--see VAR_0226872 L P mis40--------
    VAR_0226944
    Hyaline fibromatosis syndrome (HFS)4--see VAR_0226942 Y C mis40--------
    rs1917671541,2
    --80822423(+) TCAATC/TTTGTT 1 -- ds50010--------
    rs1465362711,2
    --80822432(+) TTTTAC/TATTGT 1 -- ds50010--------
    rs1845588301,2
    --80822451(+) CTTTCC/TCCAAT 1 -- ds50010--------
    rs46901241,2
    C,F,A--80822484(+) GAGTAC/TATGAT 1 -- ds500112Minor allele frequency- N:0.01EA NA WA CSA 566

    HapMap Linkage Disequilibrium report for ANTXR2 (80822303 - 81046608 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ANTXR2 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4125CNV Deletion18987735
    esv2727867CNV Deletion23290073
    esv2727866CNV Deletion23290073
    esv2727865CNV Deletion23290073
    nsv435785CNV Deletion17901297
    esv1971160CNV Deletion18987734
    esv2449837CNV Deletion19546169
    esv2727864CNV Deletion23290073
    esv990746CNV Deletion20482838
    esv1666878CNV Deletion17803354

    Human Gene Mutation Database (HGMD): ANTXR2
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608041   
    OMIM disorders: 228600  
    UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335
  • Hyaline fibromatosis syndrome (HFS) [MIM:228600]: An autosomal recessive syndrome characterized by
    abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck,
    face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. Additional features include
    gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and
    osteoporosis. Disease severity is variable. Some individuals manifest symptoms in infancy and have additional
    visceral or systemic involvement. Hyaline deposits in multiple organs, recurrent infections and intractable
    diarrhea often lead to early death. Surviving children may suffer from severely reduced mobility due to joint
    contractures. Other patients have later onset of a milder disorder affecting only the face and digits. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 16 diseases for ANTXR2:    
    About MalaCards
    juvenile hyaline fibromatosis    hyalinosis, inherited systemic    inhalation anthrax    fibromatosis
    gingival hypertrophy    gingivitis    ankylosing spondylitis    gingival overgrowth
    spondylitis    diarrhea    microcephaly    intellectual disability
    endotheliitis    multiple myeloma    myeloma    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for ANTXR2:
    Inhalation anthrax     Gingival overgrowth

    ANTXR2 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for ANTXR2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyalinosis, systemic infantile 96.7 2 17381430 (1), 19191226 (1)
    anthrax 85.8 27 17381430 (4), 17251181 (2), 17054395 (2), 15044490 (2) (see all 10)
    fibromatosis 77.7 2 17381430 (1), 19191226 (1)
    edema 34.3 1 17251181 (1)
    tumors 0 5 17251181 (4), 15044490 (1)

    GeneTests: ANTXR2
    GeneReviews: ANTXR2
    Genetic Association Database (GAD): ANTXR2
    Human Genome Epidemiology (HuGE) Navigator: ANTXR2 (4 documents)

    Export disorders for ANTXR2 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)
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    PubMed articles for ANTXR2 gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with ANTXR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling. (PubMed id 11683410)1, 2, 3, 9 Bell S.E.... Davis G.E. (J. Cell Sci. 2001)
    2. Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. (PubMed id 12700348)1, 2, 3 Scobie H.M.... Young J.A.T. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    3. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. (PubMed id 12973667)1, 2, 9 Dowling O....Martignetti J.A. (Am. J. Hum. Genet. 2003)
    4. Crystal structure of a complex between anthrax toxin and its host cell receptor. (PubMed id 15243628)1, 2, 9 Santelli E.... Liddington R.C. (Nature 2004)
    5. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. (PubMed id 21743469)1, 4 Evans D.M.... . (Nat. Genet. 2011)
    6. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. (PubMed id 20062062)1, 4  ....Brown M.A. (Nat. Genet. 2010)
    7. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    8. Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant. (PubMed id 15725249)1, 2 Lee J.Y.-Y.... Tu Y.-F. (Clin. Exp. Dermatol. 2005)
    9. Crystal structure of the von Willebrand factor A domain of human capillary morphogenesis protein 2: an anthrax toxin receptor. (PubMed id 15079089)1, 2 Lacy D.B.... Collier R.J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 118429 HGNC: 21732 AceView: ANTXR2 Ensembl:ENSG00000163297 euGenes: HUgn118429
    ECgene: ANTXR2 H-InvDB: ANTXR2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ANTXR2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ANTXR2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ANTXR2 gene:
    Search GeneIP for patents involving ANTXR2

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



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