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

    Gene ID: 118429, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:21732
    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
    mouse all
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    Genomic context

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    See ANTXR2 in Genome Data Viewer
    Location:
    4q21.21
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (79901146..80073472, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (83237562..83403767, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (80822300..80994626, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377302 Neighboring gene Sharpr-MPRA regulatory region 5843 Neighboring gene small nucleolar RNA SNORA75 Neighboring gene prostate cancer associated transcript 4 Neighboring gene MPRA-validated peak5063 silencer Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:80859151-80859758 Neighboring gene MPRA-validated peak5064 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr4:80885254-80885815 Neighboring gene uncharacterized LOC124900918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21653 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:80997503-80998702 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:81002404-81003603 Neighboring gene uncharacterized LOC124900724 Neighboring gene karyopherin subunit alpha 2 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. Denadai R, et al. Am J Med Genet A, 2012 Apr. PMID 22383261, Free PMC Article
    2. Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. Haidar Z, et al. BMC Genet, 2017 Jan 19. PMID 28103792, Free PMC Article
    3. Stability of domain 4 of the anthrax toxin protective antigen and the effect of the VWA domain of CMG2 on stability. Mamillapalli S, et al. Protein Sci, 2017 Feb. PMID 27874231, Free PMC Article
    4. Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene. Youssefian L, et al. Acta Derm Venereol, 2017 Jan 4. PMID 27174544
    5. Systemic Hyalinosis With Heterozygous CMG2 Mutations: A Case Report and Review of Literature. Rahvar M, et al. Am J Dermatopathol, 2016 May. PMID 26885603

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Investigating the Influence of ANTXR2 Gene Mutations on Protective Antigen Binding for Heightened Anthrax Resistance.
      Title: Investigating the Influence of ANTXR2 Gene Mutations on Protective Antigen Binding for Heightened Anthrax Resistance.
    2. Sex Hormone-regulated CMG2 Is Involved in Breast and Prostate Cancer Progression.
      Title: Sex Hormone-regulated CMG2 Is Involved in Breast and Prostate Cancer Progression.
    3. The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.
      Title: The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.
    4. Anthrax toxin receptor 2 is a potential therapeutic target for non-small cell lung carcinoma with MET exon 14 skipping mutations.
      Title: Anthrax toxin receptor 2 is a potential therapeutic target for non-small cell lung carcinoma with MET exon 14 skipping mutations.
    5. Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.
      Title: Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.
    6. Multiple stages of evolutionary change in anthrax toxin receptor expression in humans.
      Title: Multiple stages of evolutionary change in anthrax toxin receptor expression in humans.
    7. Genetic deletion of CMG2 exacerbates systemic-to-pulmonary shunt-induced pulmonary arterial hypertension.
      Title: Genetic deletion of CMG2 exacerbates systemic-to-pulmonary shunt-induced pulmonary arterial hypertension.
    8. Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.
      Title: Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.
    9. A Canstatin-Derived Peptide Provides Insight into the Role of Capillary Morphogenesis Gene 2 in Angiogenic Regulation and Matrix Uptake.
      Title: A Canstatin-Derived Peptide Provides Insight into the Role of Capillary Morphogenesis Gene 2 in Angiogenic Regulation and Matrix Uptake.
    10. Protective effect of anthrax toxin receptor 2 polymorphism rs4333130 against the risk of ankylosing spondylitis.
      Title: Protective effect of anthrax toxin receptor 2 polymorphism rs4333130 against the risk of ankylosing spondylitis.
    Submit: New GeneRIF Correction See all GeneRIFs (55)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hyaline fibromatosis syndrome
    MedGen: C5574677 OMIM: 228600 GeneReviews: Hyaline Fibromatosis Syndrome
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
    EBI GWAS Catalog
    Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31074, MGC45856, MGC111533

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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
      5095..177178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145794.2 → NP_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, Q4W5H6, Q59E98, Q5JPE9, Q86UI1, Q8N4J8, Q8NB13, Q96NC7
      UniProtKB/TrEMBL
      A0A7P0Z4A8
      Related
      ENSP00000306185.6, ENST00000307333.7
      Conserved Domains (3) summary
      cd01474
      Location:39 → 221
      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:394 → 479
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:223 → 317
      Anth_Ig; Anthrax receptor extracellular domain

    2. NM_001286780.2 → NP_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/TrEMBL
      J3KPY9, Q32Q26
      Related
      ENSP00000384028.1, ENST00000404191.5
      Conserved Domains (3) summary
      pfam05586
      Location:317 → 409
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:146 → 240
      Anth_Ig; Anthrax receptor extracellular domain
      cl00057
      Location:1 → 144
      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_001286781.2 → NP_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/TrEMBL
      J3KPY9, Q32Q26
      Related
      ENSP00000505865.1, ENST00000681710.1
      Conserved Domains (3) summary
      pfam05586
      Location:317 → 409
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:146 → 240
      Anth_Ig; Anthrax receptor extracellular domain
      cl00057
      Location:1 → 144
      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_058172.6 → NP_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/TrEMBL
      A0A7P0Z4A8
      Related
      ENSP00000385575.2, ENST00000403729.7
      Conserved Domains (3) summary
      cd01474
      Location:39 → 221
      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:394 → 486
      Ant_C; Anthrax receptor C-terminus region
      pfam05587
      Location:223 → 317
      Anth_Ig; Anthrax receptor extracellular domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      83237562..83403767 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P58335.5 GenPept UniProtKB/Swiss-Prot:P58335

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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