Ormdl sphingolipid biosynthesis regulator 3

ORMDL3
Identifiers
Aliases	ORMDL3, ORMDL sphingolipid biosynthesis regulator 3
External IDs	OMIM: 610075; MGI: 1913862; HomoloGene: 57032; GeneCards: ORMDL3; OMA:ORMDL3 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	39,927,601 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	98,478,194 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; bone marrow cells; ; granulocyte; ; stromal cell of endometrium; ; body of pancreas; ; epithelium of colon; ; anterior pituitary; ; olfactory zone of nasal mucosa; ; abdominal fat; ; apex of heart;
	Top expressed in
	olfactory epithelium; ; brown adipose tissue; ; saccule; ; white adipose tissue; ; lactiferous gland; ; lip; ; epithelium of small intestine; ; choroid plexus of fourth ventricle; ; tunica adventitia of aorta; ; neural layer of retina;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	integral component of membrane; SPOTS complex; endoplasmic reticulum membrane; endoplasmic reticulum; membrane; plasma membrane; secretory granule membrane; specific granule membrane;
Biological process	ceramide metabolic process; cellular sphingolipid homeostasis; neutrophil degranulation; negative regulation of ceramide biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	94103
	66612
	ENSG00000172057
	ENSMUSG00000038150
	Q8N138
	Q9CPZ6
	NM_139280; NM_001320801; NM_001320802; NM_001320803; NM_016471
	NM_025661
	NP_001307730; NP_001307731; NP_001307732; NP_644809
	NP_079937
	Wikidata
View/Edit Human	View/Edit Mouse

ORMDL sphingolipid biosynthesis regulator 3 is a protein that in humans is encoded by the ORMDL3 gene. Variants affecting the expression of this gene are associated with asthma in childhood. Transgenic mice which overexpress human ORMDL3 have increased levels of IgE. This correlated with increased numbers of macrophages, neutrophils, eosinophils, CD4⁺ and enhanced Th2 cytokine levels in the lung tissue.