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Aliases & Descriptions for ANTXR2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CMG-2 1 , 2 , 3 CMG2 1 , 2 , 3 , 5 FLJ31074 1 , 2 ISH 2 , 5 JHF 2 , 5 MGC111533 2 MGC45856 2
Descriptions Capillary morphogenesis gene 2 protein 3 anthrax toxin receptor 2 2 capillary morphogenesis protein 2 2
Search outside databases for aliases for ANTXR2 genePrevious GC identifers: GC04M081219 GC04M081285 GC04M081183
Summaries for ANTXR2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ANTXR2 : 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 causejuvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variantsencoding different isoforms have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335 Function : Necessary for cellular interactions with laminin and the extracellular matrix
Gene Wiki entry for ANTXR2
Genomic Location for ANTXR2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ANTXR2 gene Entrez Gene cytogenetic band: 4q21.21 Ensembl cytogenetic band: 4q21.21 HGNC cytogenetic band: 4q21.3 ANTXR2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure
GeneLoc location for GC04M081045:
(about GC identifiers )
Start:
81,045,749 bp from pter
End:
81,213,650 bp from pter
Size:
167,902 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000004.10 NT_016354.18 Proteins for ANTXR2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335 (See
protein sequence )Recommended Name: Anthrax toxin receptor 2 precursor Size : 489 amino acids; 53692 Da
Subunit : Binds laminin, and possibly also collagen type IV. Binds to the protective antigen (PA) ofBacillus 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
Subcellular location : Isoform 1: Cell membrane; Single-pass type I membrane protein. Note=Expressedat the cell surface
Subcellular location : Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membraneprotein. Note=Expressed predominantly within the endoplasmic reticulum and not at the plasmamembrane
Subcellular location : Isoform 3: Secreted
Miscellaneous : Upon binding of the protective antigen (PA) of Bacillus anthracis the complex movesto glycosphingolipid-rich lipid rafts, where it is internalized via a clathrin-dependent pathway
PDB structures from and Proteopedia : 1SHT (3D)
 1SHU (3D)
 1T6B (3D)
 1TZN (3D)
 
Secondary accessions : Q59E98 Q5JPE9 Q86UI1 Q8N4J8 Q8NB13 Q96NC7Alternative splicing : 4 isoforms : P58335-1 P58335-2 P58335-3 P58335-4
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001139266.1 NP_477520.2 ENSEMBL proteins: ENSP00000295465 ENSP00000306185 ENSP00000314883 ENSP00000384028 ENSP00000382324 ENSP00000385575 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for ANTXR2: Assays for ANTXR2:
Protein
Domains/ Families for ANTXR2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P58335 ProtoNet protein and cluster: P58335
2 Blocks protein families : IPB002035 Von Willebrand factor type A domain signature IPB008399 Anthrax receptor UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335 Domain : Binding to PA seems to be effected through the VWA domainSimilarity : Belongs to the ATR familySimilarity : Contains 1 VWFA domain
Gene Function for ANTXR2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001145794 Applied Biosystems Silencer ® siRNAs for ANTXR2 Sigma-Aldrich siRNA and siRNA Panels for ANTXR2 Sigma-Aldrich shRNA for ANTXR2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145794                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145794                                  untagged cDNA clones in CMV expression vector (see all 3 ): AY040326  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001145794 UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335 Function : Necessary for cellular interactions with laminin and the extracellular matrix
3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for ANTXR2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for ANTXR2 5/7 Interacting proteins for ANTXR2 (P58335 1 , 2 ENSP00000306185 3 ) via UniProtKB, MINT, and/or STRING (see all 7
)About this table
Drugs & Compounds for ANTXR2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
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Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for ANTXR2
Transcripts for ANTXR2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001145794 Sigma-Aldrich siRNA and siRNA Panels for ANTXR2 Sigma-Aldrich shRNA for ANTXR2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_058172
REFSEQ mRNAs for ANTXR2 gene (2 alternative transcripts): NM_001145794.1 NM_058172.5
Applied Biosystems TaqMan ® Gene Expression Assays: NM_058172
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145794                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145794                                  untagged cDNA clones in CMV expression vector (see all 3 ): AY040326  
Additional cDNA sequence: AB209913.1 AK023450.1 AK055636.1 AL110207.1 AL831848.1 AL832851.1 AY040326.1 AY233452.1 BC034001.1 BC042596.1 BC047345.1 BC107876.1 BC114374.1 CR590529.1 CR601853.1 CR607683.1 CR612147.1 CR617102.1
14 DOTS entries : DT.216248 DT.121248282 DT.100819726 DT.95347012 DT.100819722 DT.211486 DT.75184103 DT.121248300 DT.121248306 DT.438000 DT.100819725 DT.121248290 DT.121248325 DT.97836198
24/221 AceView cDNA sequences (see all 221
):AI074424 BM677527 Z43038 AA974465 CB163917 AI335830 AW452492 CR590529 BX280553 BP378380 CD677380 AI434624 CA389296 BQ889566 CR607683 AI274274 BM992362 CA407525 CR612147 AI810716 CR617102 AI433847 AA150434 AI674944
highest scoring ESTs for ANTXR2 :AA149312 AK091721 AW239092 AY040326 AY233452 BQ068906 BQ432519 BU177913 BX418954 BX482395
Unigene Cluster for ANTXR2: Anthrax toxin receptor 2 Hs.162963 [show with all ESTs ] Unigene Representative Sequence: NM_058172 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for ANTXR2 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 :                                            
About this scheme ECgene alternative splicing isoforms for ANTXR2 6 Ensembl transcripts including schematic representations : ENST00000295465
ENST00000307333
ENST00000346652
ENST00000404191
ENST00000399392
ENST00000403729
Expression for ANTXR2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ANTXR2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ANTXR2 1 / 2 / 3
10 probe-sets matching ANTXR2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.162963 UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335 Tissue specificity : Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney,lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen
Orthologs for ANTXR2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ANTXR2 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for ANTXR2 ENSEMBL Gene Tree for ANTXR2 Paralogs for ANTXR2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ANTXR2 gene ANTXRL 2 ANTXR1 2
SNPs/Variants for ANTXR2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ANTXR2 (up to first 250kb)
Disorders & Mutations for ANTXR2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 608041 disorders : 228600 236490 UniProtKB/Swiss-Prot: ANTR2_HUMAN, P58335
Defects in ANTXR2 are the cause of infantile systemic hyalinosis (ISH) [MIM:236490]. Thisautosomal recessive syndrome is similar to JHF, but has an earlier onset and a more severe course.Symptoms appear at birth or within the first months of life, with painful, swollen jointcontractures, osteopenia, osteoporosis and livid red hyperpigmentation over bony prominences.Patients develop multiple subcutaneous skin tumors and gingival hypertrophy. Hyaline deposits inmultiple organs, recurrent infections and intractable diarrhea often lead to death within thefirst 2 years of life. Surviving children may suffer from severely reduced mobility due to jointcontractures Defects in ANTXR2 are the cause of juvenile hyaline fibromatosis (JHF) [MIM:228600]. JHFis an autosomal recessive syndrome that is similar to ISH but takes a milder course. It ischaracterized by hyaline deposition in the dermis, multiple subcutaneous skin tumors and gingivalhypertrophy, followed by progressive joint contractions, osteopenia and osteoporosis that may leadto a severe limitation of mobility
5 Novoseek disease relationships for ANTXR2 gene
About this table GeneTests: ANTXR2 Hyalinosis Human Gene Mutation Database : ANTXR2 Human Genome Epidemiology Navigator: ANTXR2 (1 document)
Medical News for ANTXR2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ANTXR2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/37 PubMed articles for ANTXR2 gene (see all 37
): 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. (PubMed id 11683410) 1, 2, 3, 4 Bell S.E.... Davis G.E. (2001) Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. (PubMed id 12700348) 2, 3, 4 Scobie H.M....Young J.A. (2003) Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. (PubMed id 12973667) 1, 3, 4 Dowling O....Martignetti J.A. (2003) Crystal structure of a complex between anthrax toxin and its host cell receptor. (PubMed id 15243628) 1, 3, 4 Santelli E.... Liddington R.C. (2004) Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant. (PubMed id 15725249) 3, 4 Lee J.Y.-Y.... Tu Y.-F. (2005) Crystal structure of the von Willebrand factor A domain of human capillary morphogenesis protein 2: an anthrax toxin receptor. (PubMed id 15079089) 3, 4 Lacy D.B.... Collier R.J. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) Structure of heptameric protective antigen bound to an anthrax toxin receptor: a role for receptor in pH-dependent pore formation. (PubMed id 15326297) 3, 4 Lacy D.B.... Collier R.J. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Membrane insertion of anthrax protective antigen and cytoplasmic delivery of lethal factor occur at different stages of the endocytic pathway. (PubMed id 15337774) 3, 4 Abrami L.... van der Goot F.G. (2004)
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Genome Databases showing ANTXR2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ANTXR2
(According to HUGE )
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--
Specialized Databases showing ANTXR2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=ANTXR2
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-- Services for ANTXR2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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