ANTXR2 (ANTXR cell adhesion molecule 2)

2014-07-01 Affiliation

Identity

HGNC

ANTXR2

LOCATION

4q21.21

LOCUSID

118429

ALIAS

CMG-2,CMG2,HFS,ISH,JHF

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000163297	ENST00000307333	P58335
ENSG00000163297	ENST00000346652	P58335
ENSG00000163297	ENST00000403729	P58335
ENSG00000163297	ENST00000404191	J3KPY9
ENSG00000163297	ENST00000449651	A0A0C4DG84

Expression (GTEx)

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

Pathway	Source	External ID
NOD-like receptor signaling pathway	KEGG	ko04621
NOD-like receptor signaling pathway	KEGG	hsa04621
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
Uptake and actions of bacterial toxins	REACTOME	R-HSA-5339562
Uptake and function of anthrax toxins	REACTOME	R-HSA-5210891

References

Pubmed ID	Year	Title	Citations
20062062	2010	Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.	162
15243628	2004	Crystal structure of a complex between anthrax toxin and its host cell receptor.	102
16401723	2006	Receptor palmitoylation and ubiquitination regulate anthrax toxin endocytosis.	86
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75
15079089	2004	Crystal structure of the von Willebrand factor A domain of human capillary morphogenesis protein 2: an anthrax toxin receptor.	54
14508707	2003	Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.	49
19858192	2010	Cathepsin B-mediated autophagy flux facilitates the anthrax toxin receptor 2-mediated delivery of anthrax lethal factor into the cytoplasm.	40
12973667	2003	Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.	39
21328543	2011	Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.	21
21041274	2011	Genetic studies of ankylosing spondylitis in Koreans confirm associations with ERAP1 and 2p15 reported in white patients.	16

Citation

Dessen P

ANTXR2 (ANTXR cell adhesion molecule 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54049/antxr2