IRGM (immunity related GTPase M)

2012-10-01  

Identity

HGNC
IRGM
LOCATION
5q33.1
LOCUSID
345611
ALIAS
IFI1,IRGM1,LRG-47,LRG47

Other Information

Locus ID:

NCBI: 345611
MIM: 608212
HGNC: 29597
Ensembl: ENSG00000237693

Variants:

dbSNP: 345611
ClinVar: 345611
TCGA: ENSG00000237693
COSMIC: IRGM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000237693ENST00000520549H0YBM2
ENSG00000237693ENST00000522154A1A4Y4

Expression (GTEx)

0
1
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
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145

References

Pubmed IDYearTitleCitations
175542612007Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.401
203607342010Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.352
184384062008Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.134
191204852009Autophagy and pattern recognition receptors in innate immunity.65
185808842008Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort.54
185808842008Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort.54
179216952007Genome-wide association scanning highlights two autophagy genes, ATG16L1 and IRGM, as being significantly associated with Crohn's disease.52
191747802009Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.52
191747802009Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.52
194229352009Genetic risk profiling and prediction of disease course in Crohn's disease patients.33

Citation

Dessen P

IRGM (immunity related GTPase M)

Atlas Genet Cytogenet Oncol Haematol. 2012-10-01

Online version: http://atlasgeneticsoncology.org/gene/52901/irgm