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Aliases for ANTXR2 Gene

Aliases for ANTXR2 Gene

  • Anthrax Toxin Receptor 2 2 3
  • CMG2 3 4 6
  • Capillary Morphogenesis Gene 2 Protein 3 4
  • Capillary Morphogenesis Protein 2 2 3
  • CMG-2 3 4
  • HFS 3 6
  • ISH 3
  • JHF 3

External Ids for ANTXR2 Gene

Previous GeneCards Identifiers for ANTXR2 Gene

  • GC04M081219
  • GC04M081285
  • GC04M081183
  • GC04M081045
  • GC04M080822
  • GC04M076572

Summaries for ANTXR2 Gene

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 hyaline fibromatosis syndrome and hyalinosis, inherited systemic. Among its related pathways are Cellular roles of Anthrax toxin. GO annotations related to this gene include receptor activity. An important paralog of this gene is ANTXR1.

UniProtKB/Swiss-Prot for ANTXR2 Gene

  • Necessary for cellular interactions with laminin and the extracellular matrix.

Gene Wiki entry for ANTXR2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANTXR2 Gene

Genomics for ANTXR2 Gene

Regulatory Elements for ANTXR2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ANTXR2 Gene

Start:
79,901,149 bp from pter
End:
80,125,454 bp from pter
Size:
224,306 bases
Orientation:
Minus strand

Genomic View for ANTXR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANTXR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANTXR2 Gene

Proteins for ANTXR2 Gene

  • Protein details for ANTXR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58335-ANTR2_HUMAN
    Recommended name:
    Anthrax toxin receptor 2
    Protein Accession:
    P58335
    Secondary Accessions:
    • Q4W5H6
    • Q59E98
    • Q5JPE9
    • Q86UI1
    • Q8N4J8
    • Q8NB13
    • Q96NC7

    Protein attributes for ANTXR2 Gene

    Size:
    489 amino acids
    Molecular mass:
    53666 Da
    Quaternary structure:
    • 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
    SequenceCaution:
    • Sequence=AAY40907.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB70976.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD93150.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANTXR2 Gene

    Alternative splice isoforms for ANTXR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANTXR2 Gene

Proteomics data for ANTXR2 Gene at MOPED

Post-translational modifications for ANTXR2 Gene

  • Ubiquitination at Lys443 and Lys449
  • Glycosylation at Asn250 and Asn260
  • Modification sites at PhosphoSitePlus

Other Protein References for ANTXR2 Gene

Antibody Products

  • R&D Systems Antibodies for ANTXR2 (CMG-2/ANTXR2)

No data available for DME Specific Peptides for ANTXR2 Gene

Domains for ANTXR2 Gene

Suggested Antigen Peptide Sequences for ANTXR2 Gene

Graphical View of Domain Structure for InterPro Entry

P58335

UniProtKB/Swiss-Prot:

ANTR2_HUMAN :
  • P58335
Domain:
  • Binding to PA seems to be effected through the VWA domain
  • Contains 1 VWFA domain.
Family:
  • Belongs to the ATR family.
genes like me logo Genes that share domains with ANTXR2: view

No data available for Gene Families for ANTXR2 Gene

Function for ANTXR2 Gene

Molecular function for ANTXR2 Gene

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

Gene Ontology (GO) - Molecular Function for ANTXR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA --
GO:0005515 protein binding IPI 15044490
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ANTXR2: view
genes like me logo Genes that share phenotypes with ANTXR2: view

Animal Models for ANTXR2 Gene

MGI Knock Outs for ANTXR2:

Animal Model Products

CRISPR Products

miRNA for ANTXR2 Gene

miRTarBase miRNAs that target ANTXR2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANTXR2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ANTXR2 Gene

Localization for ANTXR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANTXR2 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein. Note=Expressed at the cell surface.
Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane.
Isoform 3: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANTXR2 Gene COMPARTMENTS Subcellular localization image for ANTXR2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 5
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ANTXR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IEA --
genes like me logo Genes that share ontologies with ANTXR2: view

Pathways for ANTXR2 Gene

genes like me logo Genes that share pathways with ANTXR2: view

Pathways by source for ANTXR2 Gene

1 BioSystems pathway for ANTXR2 Gene

Gene Ontology (GO) - Biological Process for ANTXR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022414 reproductive process IEA --
GO:1901998 toxin transport IEA --
genes like me logo Genes that share ontologies with ANTXR2: view

Compounds for ANTXR2 Gene

(3) HMDB Compounds for ANTXR2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5
genes like me logo Genes that share compounds with ANTXR2: view

Transcripts for ANTXR2 Gene

Unigene Clusters for ANTXR2 Gene

Anthrax toxin receptor 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANTXR2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANTXR2 Gene

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:

Relevant External Links for ANTXR2 Gene

GeneLoc Exon Structure for
ANTXR2
ECgene alternative splicing isoforms for
ANTXR2

Expression for ANTXR2 Gene

mRNA expression in normal human tissues for ANTXR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANTXR2 Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (5.1) and Esophagus - Muscularis (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANTXR2 Gene

SOURCE GeneReport for Unigene cluster for ANTXR2 Gene Hs.162963

mRNA Expression by UniProt/SwissProt for ANTXR2 Gene

P58335-ANTR2_HUMAN
Tissue specificity: Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen.
genes like me logo Genes that share expressions with ANTXR2: view

In Situ Assay Products

Orthologs for ANTXR2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANTXR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANTXR2 35
  • 99.52 (n)
  • 99.59 (a)
ANTXR2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANTXR2 35
  • 89.69 (n)
  • 89.96 (a)
ANTXR2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANTXR2 35
  • 91.33 (n)
  • 91.6 (a)
ANTXR2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Antxr2 35
  • 83.5 (n)
  • 84.8 (a)
Antxr2 16
Antxr2 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANTXR2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANTXR2 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Antxr2 35
  • 81.8 (n)
  • 84.87 (a)
chicken
(Gallus gallus)
Aves ANTXR2 35
  • 72.59 (n)
  • 75.63 (a)
ANTXR2 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANTXR2 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia antxr2 35
  • 68.65 (n)
  • 70.64 (a)
zebrafish
(Danio rerio)
Actinopterygii antxr2a 35
  • 64.81 (n)
  • 62.72 (a)
antxr2a 36
  • 59 (a)
OneToMany
antxr2b 36
  • 58 (a)
OneToMany
Dr.12251 35
Species with no ortholog for ANTXR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANTXR2 Gene

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

Paralogs for ANTXR2 Gene

Paralogs for ANTXR2 Gene

Selected SIMAP similar genes for ANTXR2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ANTXR2: view

Variants for ANTXR2 Gene

Sequence variations from dbSNP and Humsavar for ANTXR2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs2760 -- 79,905,758(+) AGAAT(A/C)CTCCC utr-variant-3-prime
rs7747 -- 79,905,908(+) CTTAT(C/T)TTTAG utr-variant-3-prime
rs12747 -- 79,906,160(+) GACAC(A/G)ATGGT utr-variant-3-prime
rs1127250 -- 79,905,291(-) CATTT(C/T)TGATG utr-variant-3-prime
rs1139638 -- 79,906,645(-) CTCAT(C/G/T)TTTTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ANTXR2 Gene

Variant ID Type Subtype PubMed ID
nsv829983 CNV Gain 17160897
esv2727864 CNV Deletion 23290073
dgv5639n71 CNV Loss 21882294
nsv508292 CNV Loss 20534489
esv990746 CNV Deletion 20482838
nsv513141 CNV Loss 21212237
esv2499655 CNV Deletion 19546169
esv1971160 CNV Deletion 18987734
nsv435785 CNV Deletion 17901297
esv4125 CNV Deletion 18987735
nsv499050 CNV Loss 21111241
esv8066 CNV Loss 19470904
esv2727865 CNV Deletion 23290073
esv1666878 CNV Deletion 17803354
nsv291362 CNV Loss 16902084
dgv882n67 CNV Gain 20364138
esv24253 CNV Gain 19812545
esv2727866 CNV Deletion 23290073
esv2727867 CNV Deletion 23290073
esv2449837 CNV Deletion 19546169

Relevant External Links for ANTXR2 Gene

HapMap Linkage Disequilibrium report
ANTXR2
Human Gene Mutation Database (HGMD)
ANTXR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANTXR2 Gene

Disorders for ANTXR2 Gene

(1) OMIM Diseases for ANTXR2 Gene (608041)

UniProtKB/Swiss-Prot

ANTR2_HUMAN
  • 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. {ECO:0000269 PubMed:12973667, ECO:0000269 PubMed:14508707, ECO:0000269 PubMed:15725249}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ANTXR2 Gene

(5) Novoseek inferred disease relationships for ANTXR2 Gene

Disease -log(P) Hits PubMed IDs
hyalinosis, systemic infantile 96.7 2
anthrax 85.8 16
fibromatosis 77.7 2
edema 34.3 1
tumors 0 5

Relevant External Links for ANTXR2

GeneTests
ANTXR2
GeneReviews
ANTXR2
Genetic Association Database (GAD)
ANTXR2
Human Genome Epidemiology (HuGE) Navigator
ANTXR2
genes like me logo Genes that share disorders with ANTXR2: view

Publications for ANTXR2 Gene

  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. (PMID: 11683410) Bell S.E. … Davis G.E. (J. Cell Sci. 2001) 2 3 4 23
  2. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. (PMID: 12973667) Dowling O. … Martignetti J.A. (Am. J. Hum. Genet. 2003) 3 4 23
  3. Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. (PMID: 12700348) Scobie H.M. … Young J.A.T. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4
  4. Crystal structure of a complex between anthrax toxin and its host cell receptor. (PMID: 15243628) Santelli E. … Liddington R.C. (Nature 2004) 3 4 23
  5. Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum. (PMID: 19191226) Deuquet J. … van der Goot F.G. (Hum. Mutat. 2009) 3 23

Products for ANTXR2 Gene

Sources for ANTXR2 Gene

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