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ANTXR2 ANTXR cell adhesion molecule 2 [ Homo sapiens (human) ]

Gene ID: 118429, updated on 17-Jun-2019

Summary

Official Symbol
ANTXR2provided by HGNC
Official Full Name
ANTXR cell adhesion molecule 2provided by HGNC
Primary source
HGNC:HGNC:21732
See related
Ensembl:ENSG00000163297 MIM:608041
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]
Expression
Broad expression in prostate (RPKM 24.4), endometrium (RPKM 22.7) and 21 other tissues See more
Orthologs

Genomic context

See ANTXR2 in Genome Data Viewer
Location:
4q21.21
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (79901146..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 Neighboring gene karyopherin subunit alpha 2 pseudogene 1 Neighboring gene ribosomal protein SA pseudogene 39

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hyaline fibromatosis syndrome
MedGen: C2745948 OMIM: 228600 GeneReviews: Hyalinosis, Inherited Systemic
not available

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

Pathways from BioSystems

  • 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) ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
reproductive process IEA
Inferred from Electronic Annotation
more info
 
toxin transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
anthrax toxin receptor 2
Names
capillary morphogenesis gene 2 protein
capillary morphogenesis protein 2

NCBI Reference Sequences (RefSeq)

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
    ENSP00000306185.6, ENST00000307333.7
    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_001286780.2NP_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
    ENSP00000384028.1, ENST00000404191.5
    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_001286781.2NP_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)
    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_058172.6NP_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
    ENSP00000385575.2, ENST00000403729.7
    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 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    79901146..80073472 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531587.3XP_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 ...
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