ANTXR2 (ANTXR cell adhesion molecule 2)

2014-07-01  

Identity

HGNC
ANTXR2
LOCATION
4q21.21
LOCUSID
118429
ALIAS
CMG-2,CMG2,HFS,ISH,JHF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 118429
MIM: 608041
HGNC: 21732
Ensembl: ENSG00000163297

Variants:

dbSNP: 118429
ClinVar: 118429
TCGA: ENSG00000163297
COSMIC: ANTXR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163297ENST00000307333P58335
ENSG00000163297ENST00000346652P58335
ENSG00000163297ENST00000403729P58335
ENSG00000163297ENST00000404191J3KPY9
ENSG00000163297ENST00000449651A0A0C4DG84

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
Uptake and actions of bacterial toxinsREACTOMER-HSA-5339562
Uptake and function of anthrax toxinsREACTOMER-HSA-5210891

References

Pubmed IDYearTitleCitations
386743612024Investigating the Influence of ANTXR2 Gene Mutations on Protective Antigen Binding for Heightened Anthrax Resistance.0
386743612024Investigating the Influence of ANTXR2 Gene Mutations on Protective Antigen Binding for Heightened Anthrax Resistance.0
351891072022Anthrax toxin receptor 2 is a potential therapeutic target for non-small cell lung carcinoma with MET exon 14 skipping mutations.0
358869952022The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.3
363160452022Sex Hormone-regulated CMG2 Is Involved in Breast and Prostate Cancer Progression.0
351891072022Anthrax toxin receptor 2 is a potential therapeutic target for non-small cell lung carcinoma with MET exon 14 skipping mutations.0
358869952022The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.3
363160452022Sex Hormone-regulated CMG2 Is Involved in Breast and Prostate Cancer Progression.0
337245662021Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.1
337499072021Genetic deletion of CMG2 exacerbates systemic-to-pulmonary shunt-induced pulmonary arterial hypertension.0
347826252021Multiple stages of evolutionary change in anthrax toxin receptor expression in humans.3
337245662021Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.1
337499072021Genetic deletion of CMG2 exacerbates systemic-to-pulmonary shunt-induced pulmonary arterial hypertension.0
347826252021Multiple stages of evolutionary change in anthrax toxin receptor expression in humans.3
320039612020A Canstatin-Derived Peptide Provides Insight into the Role of Capillary Morphogenesis Gene 2 in Angiogenic Regulation and Matrix Uptake.1

Citation

Dessen P

ANTXR2 (ANTXR cell adhesion molecule 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54049/case-report-explorer/humanGenome