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

Gene ID: 118429, updated on 27-Nov-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
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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

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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 (86) 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
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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

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