ANTXR2
Anthrax toxin receptor 2
Also known as: ANTR2_HUMAN, CMG-2, CMG2, FLJ31074
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P58335
- Gene
- ANTXR2
- Ensembl
- ENSG00000163297
- Chromosome
- 4
- Canonical length
- 489 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Secretome location
- Intracellular and membrane
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
489 residues, UniProt reviewed canonical sequence.
>P58335|ANTXR2
1 MVAERSPARS PGSWLFPGLW LLVLSGPGGL LRAQEQPSCR RAFDLYFVLD KSGSVANNWI
61 EIYNFVQQLA ERFVSPEMRL SFIVFSSQAT IILPLTGDRG KISKGLEDLK RVSPVGETYI
121 HEGLKLANEQ IQKAGGLKTS SIIIALTDGK LDGLVPSYAE KEAKISRSLG ASVYCVGVLD
181 FEQAQLERIA DSKEQVFPVK GGFQALKGII NSILAQSCTE ILELQPSSVC VGEEFQIVLS
241 GRGFMLGSRN GSVLCTYTVN ETYTTSVKPV SVQLNSMLCP APILNKAGET LDVSVSFNGG
301 KSVISGSLIV TATECSNGIA AIIVILVLLL LLGIGLMWWF WPLCCKVVIK DPPPPPAPAP
361 KEEEEEPLPT KKWPTVDASY YGGRGVGGIK RMEVRWGDKG STEEGARLEK AKNAVVKIPE
421 ETEEPIRPRP PRPKPTHQPP QTKWYTPIKG RLDALWALLR RQYDRVSLMR PQEGDEVCIW
481 ECIEKELTALocalizationUniProt · AlphaFold · HPA
Whether an antibody against ANTXR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 103 nTPM
Expression across tissuesHPA
Tissue
- prostate: 103 nTPM
- smooth muscle: 101 nTPM
- endometrium: 89 nTPM
- seminal vesicle: 85 nTPM
- placenta: 85 nTPM
- colon: 84 nTPM
Single-cell type
- neutrophils: 1,151 nCPM
- neutrophil progenitors: 1,005 nCPM
- prostatic glandular cells: 604 nCPM
- fibro-adipogenic progenitors: 396 nCPM
- monocytes: 386 nCPM
- cone photoreceptor cells: 292 nCPM
Immune cell
- basophil: 73 nTPM
- eosinophil: 62 nTPM
- neutrophil: 55 nTPM
- T-reg: 40 nTPM
- myeloid DC: 32 nTPM
- plasmacytoid DC: 32 nTPM
Brain region
- cerebral cortex: 11 nTPM
- spinal cord: 9.4 nTPM
- hypothalamus: 8.8 nTPM
- choroid plexus: 8.3 nTPM
- midbrain: 8.3 nTPM
- medulla oblongata: 7.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ANTXR2.
Disease | AllUniProt
Conditions ANTXR2 is implicated in, by any mechanism.
- Hyaline fibromatosis syndrome (HFS) MIM:228600
Disease | GeneticClinVar
40 pathogenic / likely-pathogenic of 315 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hyaline fibromatosis syndrome
- Juvenile hyaline fibromatosis
- ANTXR2-related disorder
- Familial cancer of breast
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.5
- gnomAD pLI
- 0.09
- gnomAD missense Z
- 1.03
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ANTXR2 as an antibody target. Whether an autoantibody or antibody against ANTXR2 could matter depends on whether native ANTXR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ANTXR2 is annotated at the cell surface, where native ANTXR2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ANTXR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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