ORMDL3 (ORMDL sphingolipid biosynthesis regulator 3)

2014-08-01  

Identity

HGNC
ORMDL3
LOCATION
17q21.1
LOCUSID
94103
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 94103
MIM: 610075
HGNC: 16038
Ensembl: ENSG00000172057

Variants:

dbSNP: 94103
ClinVar: 94103
TCGA: ENSG00000172057
COSMIC: ORMDL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172057ENST00000304046Q8N138
ENSG00000172057ENST00000304046A0A024R1W6
ENSG00000172057ENST00000394169Q8N138
ENSG00000172057ENST00000394169A0A024R1W6
ENSG00000172057ENST00000579695Q8N138
ENSG00000172057ENST00000579695A0A024R1W6
ENSG00000172057ENST00000581284J3KTF9
ENSG00000172057ENST00000584000J3QRM9
ENSG00000172057ENST00000584220Q8N138

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661
Neutrophil degranulationREACTOMER-HSA-6798695

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443450AsthmaDiseaseLiterature, MultilinkAnnotationassociated24934276

References

Pubmed IDYearTitleCitations
208605032010A large-scale, consortium-based genomewide association study of asthma.610
176114962007Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.524
176114962007Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.524
202287992010Genome-wide association identifies multiple ulcerative colitis susceptibility loci.248
197328642009Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.110
197328642009Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.110
198198842010The asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress.91
183104772008ORMDL3 gene is associated with asthma in three ethnically diverse populations.84
183104772008ORMDL3 gene is associated with asthma in three ethnically diverse populations.84
230117992012ORMDL3 is an inducible lung epithelial gene regulating metalloproteases, chemokines, OAS, and ATF6.70

Citation

Dessen P

ORMDL3 (ORMDL sphingolipid biosynthesis regulator 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54519/ormdl3