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

Gene ID: 118429, updated on 26-Aug-2014
Official Symbol
ANTXR2provided by HGNC
Official Full Name
anthrax toxin receptor 2provided by HGNC
Primary source
HGNC:21732
See related
Ensembl:ENSG00000163297; HPRD:07452; 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]
See ANTXR2 in Epigenomics, MapViewer
Location:
4q21.21
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 LOC101928918 Neighboring gene prostate cancer associated transcript 4 (non-protein coding) Neighboring gene karyopherin alpha 2 (RAG cohort 1, importin alpha 1) pseudogene Neighboring gene ribosomal protein SA pseudogene 39

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 ...
  • 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
 
Component Evidence Code Pubs
endoplasmic reticulum 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 IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
anthrax toxin receptor 2
Names
anthrax toxin receptor 2
capillary morphogenesis protein 2
capillary morphogenesis gene 2 protein

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 

    Range
    4852..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 proteins identical to 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
    Conserved Domains (3) summary
    pfam05586
    Location:394486
    Blast Score: 439
    Ant_C; Anthrax receptor C-terminus region
    pfam05587
    Location:214318
    Blast Score: 444
    Anth_Ig; Anthrax receptor extracellular domain
    cd01474
    Location:39221
    Blast Score: 829
    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 ...
  2. NM_001286780.1NP_001273709.1  anthrax toxin receptor 2 isoform 3

    See proteins identical to 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/TrEMBL
    J3KPY9
    UniProtKB/Swiss-Prot
    P58335
    UniProtKB/TrEMBL
    Q32Q26
    Conserved Domains (3) summary
    pfam05586
    Location:317410
    Blast Score: 482
    Ant_C; Anthrax receptor C-terminus region
    pfam05587
    Location:137241
    Blast Score: 438
    Anth_Ig; Anthrax receptor extracellular domain
    cl00057
    Location:1144
    Blast Score: 619
    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 proteins identical to 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/TrEMBL
    A4FUA5
    UniProtKB/TrEMBL
    J3KPY9
    UniProtKB/Swiss-Prot
    P58335
    Conserved Domains (3) summary
    pfam05586
    Location:317410
    Blast Score: 482
    Ant_C; Anthrax receptor C-terminus region
    pfam05587
    Location:137241
    Blast Score: 438
    Anth_Ig; Anthrax receptor extracellular domain
    cl00057
    Location:1144
    Blast Score: 619
    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 proteins identical to 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
    pfam05586
    Location:394487
    Blast Score: 479
    Ant_C; Anthrax receptor C-terminus region
    pfam05587
    Location:214318
    Blast Score: 443
    Anth_Ig; Anthrax receptor extracellular domain
    cd01474
    Location:39221
    Blast Score: 828
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

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

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    76572333..76738059
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

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