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

ANTXR2 Gene

protein-coding   GIFtS: 61
GCID: GC04M080822

anthrax toxin receptor 2
 Explore 15 diseases affiliated with
ANTXR2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ANTXR2    

Aliases
for ANTXR2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Anthrax Toxin Receptor 21 2     JHF2 5
CMG21 2 3 5     FLJ310741
CMG-21 2 3     HFS2
Capillary Morphogenesis Gene 2 Protein2 3     Capillary Morphogenesis Protein 22
ISH2 5     

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

Export aliases for ANTXR2 gene to outside databases

Previous GC identifers: GC04M081219 GC04M081285 GC04M081183 GC04M081045 GC04M076572


Summaries
for ANTXR2 gene

(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 ANTXR2:
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)

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

Gene Wiki entry for ANTXR2


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences 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 plasmid: ANTXR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANTXR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ANTXR2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein. Note=Expressed at the cell surface
Subcellular location: Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Expressed
predominantly within the endoplasmic reticulum and not at the plasma membrane
Subcellular location: Isoform 3: Secreted
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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P58335

    • ANTXR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000385575   ENSP00000413700   ENSP00000384028   ENSP00000314883   ENSP00000306185  
     ENSP00000295465  

    Human Recombinant Protein Products: 
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    OriGene Purified Proteins (see all 2): ANTXR2
    OriGene Protein Over-expression Lysate: ANTXR2
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    Novus Biologicals ANTXR2 Proteins
    Novus Biologicals ANTXR2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ANTXR2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    ANTXR2 for ontologies           About GeneDecksing



    ANTXR2 Antibody Products: 
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    Uscn ELISAs and CLIAs for ANTXR2

    Protein Domains /
    Families
    for ANTXR2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ANTXR2 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for ANTXR2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ANTXR2
    8/158 QIAGEN miScript miRNA 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 plasmid: ANTXR2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ANTXR2 (see all 3)
    OriGene siRNA: ANTXR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ANTXR2

    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for ANTXR2

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANTXR2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IEA--
    GO:0005515protein binding IPI15326297
    GO:0046872metal ion binding IEA--


    ANTXR2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ANTXR2:
     Decreased TP53 protein express 

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


    Pathways & Interactions
    for ANTXR2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cellular roles of Anthrax toxin
    		Cellular roles of Anthrax toxin1.00


    1 BioSystems Pathway for ANTXR2 
        Cellular roles of Anthrax toxin


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ANTXR2

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

    5/8 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 (GO ID links to tree view):    About this table

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


    ANTXR2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ANTXR2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ANTXR2

    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--
    Search CenterWatch for drugs/clinical trials and news about ANTXR2 / ANTR2 

    Transcripts
    for ANTXR2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ANTXR2 gene (2 alternative transcripts): 
    NM_001145794.1  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
    Products:             		 OriGene 3'-UTR Clone (see all 2): ANTXR2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ANTXR2
    8/158 QIAGEN miScript miRNA 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 plasmid: ANTXR2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ANTXR2 (see all 3)
    OriGene siRNA: ANTXR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ANTXR2
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ANTXR2 (NM_058172)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANTXR2 
    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ANTXR2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANTXR2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANTXR2

    Additional cDNA 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 

    24/221 AceView cDNA sequences (see all 221):

    AI435428 CD677380 CR607683 CA389296 BQ889566 BP378421 AW452492 AA295809 
    AI674944 AW135187 BF198039 AY233452 AI341428 BM761003 BM677527 AA974465 
    Z43038 AI810716 BX280553 AA150434 CR617102 BF002920 BP378380 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

    Expression
    for ANTXR2 gene

    (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

    ANTXR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTCCACACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ANTXR2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ANTXR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANTXR2

    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

        SABiosciences Custom PCR Arrays for ANTXR2
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANTXR2

    Orthologs
    for ANTXR2 gene

    (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 ANTXR2 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ANTXR21 anthrax toxin receptor 2 72.69(n)
    75.74(a)    		   422580  XM_420539.3  XP_420539.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ANTXR26
    		 --
    		 62(a)
    		 1 ↔ 1
    		 GL343425.1(231463-318876)
    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
    for ANTXR2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for ANTXR2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 21 variations for ANTXR2
         15/21 CNVs (see all 21): 62217 98766 92215 44171 92213 92214 39379 23128 80377 92216 98767 63873 80378 43595 80379
    Human Gene Mutation Database (HGMD): ANTXR2
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    Disorders / Diseases
    for ANTXR2 gene

    (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.)
    About This Section
    ANTXR2 for disorders           About GeneDecksing

    OMIM gene information: 608041   
    OMIM disorders: 228600  236490  
    UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335
  • Defects in ANTXR2 are the cause of infantile systemic hyalinosis (ISH) [MIM:236490]. This autosomal recessive
    • syndrome is similar to JHF, but has an earlier onset and a more severe course. Symptoms appear at birth or within the
    first months of life, with painful, swollen joint contractures, osteopenia, osteoporosis and livid red
    hyperpigmentation over bony prominences. Patients develop multiple subcutaneous skin tumors and gingival hypertrophy.
    Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to death within the
    first 2 years of life. Surviving children may suffer from severely reduced mobility due to joint contractures
  • Defects in ANTXR2 are the cause of juvenile hyaline fibromatosis (JHF) [MIM:228600]. JHF is an autosomal
    • recessive syndrome that is similar to ISH but takes a milder course. It is characterized by hyaline deposition in the
    dermis, multiple subcutaneous skin tumors and gingival hypertrophy, followed by progressive joint contractions,
    osteopenia and osteoporosis that may lead to a severe limitation of mobility

    15 diseases for ANTXR2:    About MalaCards
    juvenile hyaline fibromatosis    hyalinosis    fibromatosis    hyalinosis, inherited systemic
    osteopenia/osteoporosis    gingival overgrowth    ankylosing spondylitis    intellectual disability
    gingival hypertrophy    gingivitis    spondylitis    osteoporosis
    microcephaly    diarrhea    prostatitis

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

    5 Novoseek 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
    Hyalinosis, Inherited Systemic

    Human Genome Epidemiology (HuGE) Navigator: ANTXR2 (4 documents)

    Export disorders for ANTXR2 gene to outside databases

    Publications
    for ANTXR2 gene

    (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 ANTXR2 gene, integrated from 9 sources (see all 58):
    (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. (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. (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. (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. (2004)
    5. 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. (2005)
    6. 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. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Structure of heptameric protective antigen bound to an anthrax toxin receptor: a role for receptor in pH-dependent pore formation. (PubMed id 15326297)1, 2 Lacy D.B.... Collier R.J. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Membrane insertion of anthrax protective antigen and cytoplasmic delivery of lethal factor occur at different stages of the endocytic pathway. (PubMed id 15337774)1, 2 Abrami L.... van der Goot F.G. (2004)

    External Searches for ANTXR2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing ANTXR2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 118429 HGNC: 21732 AceView: ANTXR2 Ensembl:ENSG00000163297 euGenes: HUgn118429
    ECgene: ANTXR2 H-InvDB: ANTXR2

    Other Databases showing ANTXR2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ANTXR2 gene

    (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 ANTXR2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ANTXR2

    Intellectual Property
    for ANTXR2 gene

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

    GeneCards and IP:
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