Gene: ANTXR1

Alternate names for this Gene: ATR|GAPO|TEM8

Gene Summary: This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.3

Description of this Gene: ANTXR cell adhesion molecule 1

Type of Gene: protein-coding

rs11685794 in ANTXR1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 21998595 2011 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12474538 in ANTXR1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs6716266 in ANTXR1 gene and Childhood asthma PMID 17611496 2007 Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.

rs397514700 in ANTXR1 gene and Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy PMID 23602711 2013 Mutations in ANTXR1 cause GAPO syndrome.

PMID 25045128 2014 Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

rs4315565 in ANTXR1 gene and Height PMID 21998595 2011 We found two novel height loci (Xp22-rs12393627, P = 3.4×10(-12) and 2p14-rs4315565, P = 1.2×10(-8)).

rs10173269 in ANTXR1 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.

PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

rs11126228 in ANTXR1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.