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    ANTXR2 anthrax toxin receptor 2 [ Homo sapiens (human) ]

    Gene ID: 118429, updated on 12-Mar-2017
    Official Symbol
    ANTXR2provided by HGNC
    Official Full Name
    anthrax toxin receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:21732
    See related
    Ensembl:ENSG00000163297 MIM:608041; Vega:OTTHUMG00000151982
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HFS; ISH; JHF; CMG2; CMG-2
    Summary
    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]
    Orthologs
    Location:
    4q21.21
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (79901617..80073472, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (80822771..80994626, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377302 Neighboring gene prostate cancer associated transcript 4 (non-protein coding) Neighboring gene karyopherin subunit alpha 2 pseudogene 1 Neighboring gene ribosomal protein SA pseudogene 39

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hyaline fibromatosis syndrome
    MedGen: C2745948 OMIM: 228600 GeneReviews: Hyalinosis, Inherited Systemic
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
    NHGRI GWA Catalog
    Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
    NHGRI GWA Catalog
    • Cellular roles of Anthrax toxin, organism-specific biosystem (from Pathway Interaction Database)
      Cellular roles of Anthrax toxin, organism-specific biosystem
      Cellular roles of Anthrax toxin
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Infectious disease, organism-specific biosystem (from REACTOME)
      Infectious disease, organism-specific biosystem
      Infectious disease
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • Uptake and actions of bacterial toxins, organism-specific biosystem (from REACTOME)
      Uptake and actions of bacterial toxins, organism-specific biosystemThe toxic effects of many bacteria on their human hosts are mediated by proteins released from the bacteria that enter human cells and disrupt critical cellular functions (Henkel et al. 2010). All of...
    • Uptake and function of anthrax toxins, organism-specific biosystem (from REACTOME)
      Uptake and function of anthrax toxins, organism-specific biosystemBacillus anthracis bacteria target cells in an infected human through the action of three secreted bacterial proteins, LF, EF, and PA (reviews: Turk 2007; Young and Collier 2007). LF (lethal factor) ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ31074, MGC45856, MGC111533

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    reproductive process IEA
    Inferred from Electronic Annotation
    more info
     
    toxin transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    anthrax toxin receptor 2
    Names
    capillary morphogenesis gene 2 protein
    capillary morphogenesis protein 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015987.1 RefSeqGene

      Range
      5001..176707
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145794.1NP_001139266.1  anthrax toxin receptor 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001139266.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (2).
      Source sequence(s)
      AC109518, AY233452, BG235895, DA194583, DA989889, DB280658
      Consensus CDS
      CCDS47086.1
      UniProtKB/Swiss-Prot
      P58335
      Related
      ENSP00000306185, OTTHUMP00000200884, ENST00000307333, OTTHUMT00000324663
      Conserved Domains (3) summary
      cd01474
      Location:39221
      vWA_ATR; ATR (Anthrax Toxin Receptor): Anthrax toxin is a key virulence factor for Bacillus anthracis, the causative agent of anthrax. ATR is the cellular receptor for the anthrax protective antigen and facilitates entry of the toxin into cells. The VWA domain in ...
      pfam05586
      Location:394479
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:223317
      Anth_Ig; Anthrax receptor extracellular domain
    2. NM_001286780.1NP_001273709.1  anthrax toxin receptor 2 isoform 3

      See identical proteins and their annotated locations for NP_001273709.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and the 3' UTR and coding sequence compared to variant 2. The resulting isoform (3) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 2. Variants 3 and 4 both encode the same isoform (3).
      Source sequence(s)
      AC109518, AK091721, BC107876, BM989747
      Consensus CDS
      CCDS68733.1
      UniProtKB/Swiss-Prot
      P58335
      UniProtKB/TrEMBL
      J3KPY9, Q32Q26
      Related
      ENSP00000384028, OTTHUMP00000200886, ENST00000404191, OTTHUMT00000324665
      Conserved Domains (3) summary
      pfam05586
      Location:317409
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:146240
      Anth_Ig; Anthrax receptor extracellular domain
      cl00057
      Location:1144
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    3. NM_001286781.1NP_001273710.1  anthrax toxin receptor 2 isoform 3

      See identical proteins and their annotated locations for NP_001273710.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and the 3' UTR and coding sequence compared to variant 2. The resulting isoform (3) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 2. Variants 3 and 4 both encode the same isoform (3).
      Source sequence(s)
      AC097711, AC109518, AK091721, BC114374, BM989747, DB283536
      Consensus CDS
      CCDS68733.1
      UniProtKB/Swiss-Prot
      P58335
      UniProtKB/TrEMBL
      A4FUA5, J3KPY9
      Conserved Domains (3) summary
      pfam05586
      Location:317409
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:146240
      Anth_Ig; Anthrax receptor extracellular domain
      cl00057
      Location:1144
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    4. NM_058172.5NP_477520.2  anthrax toxin receptor 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_477520.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (1) has a shorter and distinct C-terminus compared to isoform 2.
      Source sequence(s)
      AB209913, AC109518, AL832851, BM989747, DA194583, DA989889, DB280658
      Consensus CDS
      CCDS47085.1
      UniProtKB/Swiss-Prot
      P58335
      Related
      ENSP00000385575, OTTHUMP00000200887, ENST00000403729, OTTHUMT00000324666
      Conserved Domains (3) summary
      cd01474
      Location:39221
      vWA_ATR; ATR (Anthrax Toxin Receptor): Anthrax toxin is a key virulence factor for Bacillus anthracis, the causative agent of anthrax. ATR is the cellular receptor for the anthrax protective antigen and facilitates entry of the toxin into cells. The VWA domain in ...
      pfam05586
      Location:394486
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:223317
      Anth_Ig; Anthrax receptor extracellular domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      79901617..80073472 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531587.2XP_011529889.1  anthrax toxin receptor 2 isoform X1

      Conserved Domains (3) summary
      pfam05586
      Location:317402
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:146240
      Anth_Ig; Anthrax receptor extracellular domain
      cl00057
      Location:1144
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    2. XM_017007711.1XP_016863200.1  anthrax toxin receptor 2 isoform X1

      Conserved Domains (3) summary
      pfam05586
      Location:317402
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:146240
      Anth_Ig; Anthrax receptor extracellular domain
      cl00057
      Location:1144
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      80799284..80971124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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