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Aliases for ANTXR2 Gene

Aliases for ANTXR2 Gene

  • ANTXR Cell Adhesion Molecule 2 2 3
  • 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 (ANTXR Cell Adhesion Molecule 2) is a Protein Coding gene. Diseases associated with ANTXR2 include Hyaline Fibromatosis Syndrome and Fibromatosis. Among its related pathways are Cellular roles of Anthrax toxin and Uptake and actions of bacterial toxins. 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

Additional gene information for ANTXR2 Gene

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

Genomics for ANTXR2 Gene

GeneHancer (GH) Regulatory Elements for ANTXR2 Gene

Promoters and enhancers for ANTXR2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J080069 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 672.7 +53.0 52984 6.7 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF766 FOS ANTXR2 PRDM8 KPNA2P1 GC04M079948
GH04J080123 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 660.3 -0.7 -743 4.6 HDGF ATF1 PKNOX1 ARNT NCOA2 ZNF280A TCF12 ZNF766 ARID2 FOS ANTXR2 PRDM8 LOC105377303 RPSAP39
GH04J080196 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.4 -71.7 -71718 2.3 PKNOX1 ZSCAN4 KLF17 CHAMP1 ZNF335 ZNF366 RCOR1 EGR2 SP3 ZBTB11 PRDM8 GC04M080195 ANTXR2 LOC105377303 GC04M080167
GH04J080077 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 24.3 +46.7 46700 2.9 FOSL1 JUND POLR2A JUN FOS NFE2 KPNA2P1 ANTXR2 PRDM8 LOC105377303 GC04M079948
GH04J080171 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 19.3 -47.3 -47342 3.2 FOSL1 GATA3 HMBOX1 TRIM24 ETV6 IKZF2 RUNX3 ANTXR2 PRDM8 FGF5 RPSAP39 GC04M080167
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANTXR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANTXR2 gene promoter:
  • c-Jun
  • ATF-2
  • p53
  • AP-1
  • SRF
  • SRF (504 AA)
  • Nkx3-1
  • Nkx3-1 v2
  • Nkx3-1 v1
  • Nkx3-1 v3

Genomic Locations for ANTXR2 Gene

Genomic Locations for ANTXR2 Gene
224,306 bases
Minus strand
224,306 bases
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:
    Recommended name:
    Anthrax toxin receptor 2
    Protein Accession:
    Secondary Accessions:
    • Q4W5H6
    • Q59E98
    • Q5JPE9
    • Q86UI1
    • Q8N4J8
    • Q8NB13
    • Q96NC7

    Protein attributes for ANTXR2 Gene

    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.
    • 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.
    • 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


neXtProt entry for ANTXR2 Gene

Post-translational modifications for ANTXR2 Gene

  • Glycosylation at Asn260 and Asn250
  • Ubiquitination at Lys449 and posLast=443443
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANTXR2 Gene

Domains & Families for ANTXR2 Gene

Gene Families for ANTXR2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ANTXR2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Binding to PA seems to be effected through the VWA domain.
  • Belongs to the ATR family.
  • Binding to PA seems to be effected through the VWA domain.
  • Belongs to the ATR family.
genes like me logo Genes that share domains with ANTXR2: view

Function for ANTXR2 Gene

Molecular function for ANTXR2 Gene

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

Phenotypes From GWAS Catalog for ANTXR2 Gene

Gene Ontology (GO) - Molecular Function for ANTXR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IBA --
GO:0005515 protein binding IPI 15044490
GO:0038023 signaling receptor activity IEA --
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

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANTXR2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
endosome 5
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
golgi apparatus 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANTXR2 Gene

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:0007165 signal transduction IEA --
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

(4) Drugs for ANTXR2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Magnesium Approved Nutra 0
Manganese Approved Nutra 37
MDX-1303 Investigational Pharma Target 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:

Clone 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: - -

Relevant External Links for ANTXR2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ANTXR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ANTXR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANTXR2 Gene:


SOURCE GeneReport for Unigene cluster for ANTXR2 Gene:


mRNA Expression by UniProt/SwissProt for ANTXR2 Gene:

Tissue specificity: Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen.

Evidence on tissue expression from TISSUES for ANTXR2 Gene

  • Nervous system(4.5)
  • Lymph node(4.2)
  • Skin(2.5)
  • Muscle(2.2)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANTXR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
  • adrenal gland
  • intestine
  • large intestine
  • small intestine
  • ovary
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • lymph node
  • lymph vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ANTXR2: view

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
(Pan troglodytes)
Mammalia ANTXR2 34 33
  • 99.52 (n)
(Canis familiaris)
Mammalia ANTXR2 34 33
  • 91.33 (n)
(Bos Taurus)
Mammalia ANTXR2 34 33
  • 89.69 (n)
(Mus musculus)
Mammalia Antxr2 16 34 33
  • 83.5 (n)
(Rattus norvegicus)
Mammalia Antxr2 33
  • 81.8 (n)
(Monodelphis domestica)
Mammalia ANTXR2 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia ANTXR2 34
  • 63 (a)
(Gallus gallus)
Aves ANTXR2 34 33
  • 72.59 (n)
(Anolis carolinensis)
Reptilia ANTXR2 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia antxr2 33
  • 68.65 (n)
(Danio rerio)
Actinopterygii antxr2a 34 33
  • 64.81 (n)
antxr2b 34
  • 58 (a)
Dr.12251 33
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

Gene Tree for ANTXR2 (if available)
Gene Tree for ANTXR2 (if available)
Evolutionary constrained regions (ECRs) for ANTXR2: view image

Paralogs for ANTXR2 Gene

Paralogs for ANTXR2 Gene

(3) SIMAP similar genes for ANTXR2 Gene using alignment to 4 proteins:

  • Q32Q26_HUMAN
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 Variation AA Info Type
rs1041923289 uncertain-significance, Hyaline fibromatosis syndrome 80,073,015(-) G/A 5_prime_UTR_variant, intron_variant
rs112023055 uncertain-significance, Hyaline fibromatosis syndrome 79,977,998(-) G/A intron_variant
rs113482034 likely-benign, Hyaline fibromatosis syndrome 80,033,463(-) G/A intron_variant
rs113707133 likely-benign, Hyaline fibromatosis syndrome 80,031,681(-) C/A/T coding_sequence_variant, missense_variant
rs11557908 benign, Hyaline fibromatosis syndrome 80,072,879(-) G/C 5_prime_UTR_variant, intron_variant

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)

Additional Variant Information for ANTXR2 Gene

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

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

Disorders for ANTXR2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hyaline fibromatosis syndrome
  • hfs
gingival hypertrophy
  • hypertrophy of gingivae
anthrax disease
  • gas gangrene
gingival disease
  • gingival diseases
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Additional Disease Information for ANTXR2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SE … Davis GE (Journal of cell science 2001) 2 3 4 22 58
  2. Crystal structure of a complex between anthrax toxin and its host cell receptor. (PMID: 15243628) Santelli E … Liddington RC (Nature 2004) 3 4 22 58
  3. Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. (PMID: 12700348) Scobie HM … Young JA (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4 58
  4. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. (PMID: 12973667) Dowling O … Martignetti JA (American journal of human genetics 2003) 3 4 22 58
  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 DM … Wellcome Trust Case Control Consortium 2 (WTCCC2) (Nature genetics 2011) 3 44 58

Products for ANTXR2 Gene

Sources for ANTXR2 Gene

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