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Aliases for ANTXR2 Gene

Aliases for ANTXR2 Gene

  • Anthrax Toxin Receptor 2 2 3 5
  • Capillary Morphogenesis Gene 2 Protein 3 4
  • Capillary Morphogenesis Protein 2 2 3
  • CMG-2 3 4
  • CMG2 3 4
  • HFS 3
  • 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 HIV Life Cycle and Toll-Like receptor Signaling Pathways. 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

Enhancers for ANTXR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F080077 1.4 FANTOM5 Ensembl ENCODE 24.3 +46.7 46701 2.9 ZNF316 JUND JUN FOS FOXP2 NFE2 MAFK ANTXR2 PRDM8 LOC105377303 KPNA2P1 GC04M079948
GH04F080069 0.6 FANTOM5 ENCODE 22.6 +53.0 52985 6.7 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 CBX5 FOS ANTXR2 PRDM8 KPNA2P1 GC04M079948
GH04F080171 1.2 FANTOM5 Ensembl ENCODE 19.3 -47.3 -47343 3.2 CBX3 HMBOX1 ETV6 TRIM24 MAFK ANTXR2 PRDM8 FGF5 RPSAP39
GH04F080201 1 Ensembl ENCODE 17.9 -77.1 -77089 2.9 FEZF1 RAD21 GLIS2 ZNF143 YY2 ZNF843 SMARCA4 IKZF1 ZBTB33 MYC ANTXR2 PRDM8 GC04M080195 GC04M080238
GH04F080100 1.6 FANTOM5 Ensembl ENCODE 17.3 +23.9 23869 1.5 KLF4 ZBTB40 ZNF316 JUND MAFF GATA3 ATF3 FOS MAFK EMSY ANTXR2 PRDM8 LOC105377303 KPNA2P1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ANTXR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANTXR2 Gene

Chromosome:
4
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

Genes around ANTXR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANTXR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for ANTXR2 Gene

  • Ubiquitination at Lys 443 and Lys 449
  • Glycosylation at Asn 250 and Asn 260
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ANTXR2 (CMG-2/ANTXR2)
  • Cloud-Clone Corp. Antibodies for ANTXR2

No data available for DME Specific Peptides for ANTXR2 Gene

Domains & Families for ANTXR2 Gene

Suggested Antigen Peptide Sequences for ANTXR2 Gene

Graphical View of Domain Structure for InterPro Entry

P58335

UniProtKB/Swiss-Prot:

ANTR2_HUMAN :
  • Binding to PA seems to be effected through the VWA domain.
  • Belongs to the ATR family.
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

Human Phenotype Ontology for ANTXR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ANTXR2 Gene

MGI Knock Outs for ANTXR2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ANTXR2

miRNA for ANTXR2 Gene

miRTarBase miRNAs that target ANTXR2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
endosome 5
extracellular 5
plasma membrane 5
cytosol 2
cytoskeleton 1
golgi apparatus 1
mitochondrion 1
nucleus 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 IEA --
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 & Interactions for ANTXR2 Gene

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

Pathways by source for ANTXR2 Gene

1 KEGG 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

No data available for SIGNOR curated interactions for ANTXR2 Gene

Drugs & Compounds for ANTXR2 Gene

(3) Drugs for ANTXR2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34
calcium Nutra 0
Magnesium Nutra 0
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:

Inhibitory RNA 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 (x5.1) and Esophagus - Muscularis (x4.7).

Protein differential expression in normal tissues from HIPED for ANTXR2 Gene

This gene is overexpressed in Adrenal (42.8) and Breast (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANTXR2 Gene



NURSA nuclear receptor signaling pathways regulating expression of ANTXR2 Gene:

ANTXR2

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 expression patterns with ANTXR2: view

Primer Products

No data available for Protein tissue co-expression partners for ANTXR2 Gene

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 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia ANTXR2 34 35
  • 91.33 (n)
cow
(Bos Taurus)
Mammalia ANTXR2 34 35
  • 89.69 (n)
mouse
(Mus musculus)
Mammalia Antxr2 34 16 35
  • 83.5 (n)
rat
(Rattus norvegicus)
Mammalia Antxr2 34
  • 81.8 (n)
oppossum
(Monodelphis domestica)
Mammalia ANTXR2 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANTXR2 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANTXR2 34 35
  • 72.59 (n)
lizard
(Anolis carolinensis)
Reptilia ANTXR2 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia antxr2 34
  • 68.65 (n)
zebrafish
(Danio rerio)
Actinopterygii antxr2a 34 35
  • 64.81 (n)
antxr2b 35
  • 58 (a)
OneToMany
Dr.12251 34
Species where no ortholog for ANTXR2 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs137852901 Hyaline fibromatosis syndrome (HFS) [MIM:228600], Pathogenic 79,983,915(-) CTATT(A/G/T)TGGTG reference, missense
rs137852902 Hyaline fibromatosis syndrome (HFS) [MIM:228600], Pathogenic 80,055,996(-) TAAAG(A/G)CTTGG reference, missense
rs137852903 Hyaline fibromatosis syndrome (HFS) [MIM:228600], Pathogenic 80,008,576(-) GTTAC(G/T)GCTAC reference, missense
rs137852905 Hyaline fibromatosis syndrome (HFS) [MIM:228600], Pathogenic 80,054,342(-) AAGAA(C/T)TGCTG reference, missense
rs781637328 Hyaline fibromatosis syndrome (HFS) [MIM:228600] 80,036,017(+) AGTAC(A/G)TGACT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1009e214 CNV loss 21293372
dgv882n67 CNV gain 20364138
esv1666878 CNV deletion 17803354
esv1971160 CNV deletion 18987734
esv24253 CNV gain 19812545
esv2449837 CNV deletion 19546169
esv2499655 CNV deletion 19546169
esv2727864 CNV deletion 23290073
esv2727865 CNV deletion 23290073
esv2727866 CNV deletion 23290073
esv2727867 CNV deletion 23290073
esv3564132 CNV deletion 23714750
esv3575754 CNV gain 25503493
esv3601130 CNV gain 21293372
esv4125 CNV loss 18987735
esv8066 CNV loss 19470904
esv990746 CNV deletion 20482838
nsv1006026 CNV loss 25217958
nsv1072939 CNV deletion 25765185
nsv1074730 CNV deletion 25765185
nsv1117104 CNV deletion 24896259
nsv1120487 CNV tandem duplication 24896259
nsv1149531 CNV duplication 26484159
nsv1152257 CNV deletion 26484159
nsv291362 CNV deletion 16902084
nsv435785 CNV deletion 17901297
nsv499050 CNV loss 21111241
nsv508292 CNV deletion 20534489
nsv513141 CNV loss 21212237
nsv829983 CNV gain 17160897
nsv955654 CNV deletion 24416366

Variation tolerance for ANTXR2 Gene

Residual Variation Intolerance Score: 39.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.06; 50.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANTXR2 Gene

Human Gene Mutation Database (HGMD)
ANTXR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANTXR2

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

Disorders for ANTXR2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for ANTXR2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyaline fibromatosis syndrome
  • neurofibromatosis 1
hyalinosis, inherited systemic
  • hyaline fibromatosis syndrome
fibromatosis
gingival hypertrophy
  • hypertrophy of gingivae
anthrax disease
  • anthrax
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for ANTXR2

Genetic Association Database (GAD)
ANTXR2
Human Genome Epidemiology (HuGE) Navigator
ANTXR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANTXR2
genes like me logo Genes that share disorders with ANTXR2: view

No data available for Genatlas for ANTXR2 Gene

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 22 64
  2. Crystal structure of a complex between anthrax toxin and its host cell receptor. (PMID: 15243628) Santelli E. … Liddington R.C. (Nature 2004) 3 4 22 64
  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 64
  4. 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 22 64
  5. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. (PMID: 21743469) Evans D.M. … . (Nat. Genet. 2011) 3 46 64

Products for ANTXR2 Gene

Sources for ANTXR2 Gene

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