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) Band 17q21.1 Start 39,921,041 bp End 39,927,601 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 D Start 98,472,082 bp End 98,478,194 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 94103 66612 Ensembl ENSG00000172057 ENSMUSG00000038150 UniProt Q8N138 Q9CPZ6 RefSeq (mRNA) NM_139280 NM_001320801 NM_001320802 NM_001320803 NM_016471 NM_025661 RefSeq (protein) NP_001307730 NP_001307731 NP_001307732 NP_644809 NP_079937 Location (UCSC) Chr 17: 39.92 – 39.93 Mb Chr 11: 98.47 – 98.48 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

ORMDL sphingolipid biosynthesis regulator 3 is a protein that in humans is encoded by the ORMDL3 gene.

Further reading

• Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, Depner M, von Berg A, Bufe A, Rietschel E, Heinzmann A, Simma B, Frischer T, Willis-Owen SA, Wong KC, Illig T, Vogelberg C, Weiland SK, von Mutius E, Abecasis GR, Farrall M, Gut IG, Lathrop GM, Cookson WO (2007). "Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma". Nature. 448 (7152): 470–3. doi:10.1038/nature06014. PMID 17611496.
• Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, Depner M, von Berg A, Bufe A, Rietschel E, Heinzmann A, Simma B, Frischer T, Willis-Owen SA, Wong KC, Illig T, Vogelberg C, Weiland SK, von Mutius E, Abecasis GR, Farrall M, Gut IG, Lathrop GM, Cookson WO (2007). "Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma". Nature. 448 (7152): 470–3. doi:10.1038/nature06014. PMID 17611496.
• Hirota T, Harada M, Sakashita M, Doi S, Miyatake A, Fujita K, Enomoto T, Ebisawa M, Yoshihara S, Noguchi E, Saito H, Nakamura Y, Tamari M (2008). "Genetic polymorphism regulating ORM1-like 3 (Saccharomyces cerevisiae) expression is associated with childhood atopic asthma in a Japanese population". J. Allergy Clin. Immunol. 121 (3): 769–70. doi:10.1016/j.jaci.2007.09.038. PMID 18155279.
• Galanter J, Choudhry S, Eng C, Nazario S, Rodríguez-Santana JR, Casal J, Torres-Palacios A, Salas J, Chapela R, Watson HG, Meade K, LeNoir M, Rodríguez-Cintrón W, Avila PC, Burchard EG (2008). "ORMDL3 gene is associated with asthma in three ethnically diverse populations". Am. J. Respir. Crit. Care Med. 177 (11): 1194–200. doi:10.1164/rccm.200711-1644OC. PMC 2408437. PMID 18310477.
• Galanter J, Choudhry S, Eng C, Nazario S, Rodríguez-Santana JR, Casal J, Torres-Palacios A, Salas J, Chapela R, Watson HG, Meade K, LeNoir M, Rodríguez-Cintrón W, Avila PC, Burchard EG (2008). "ORMDL3 gene is associated with asthma in three ethnically diverse populations". Am. J. Respir. Crit. Care Med. 177 (11): 1194–200. doi:10.1164/rccm.200711-1644OC. PMC 2408437. PMID 18310477.
• Tavendale R, Macgregor DF, Mukhopadhyay S, Palmer CN (2008). "A polymorphism controlling ORMDL3 expression is associated with asthma that is poorly controlled by current medications". J. Allergy Clin. Immunol. 121 (4): 860–3. doi:10.1016/j.jaci.2008.01.015. PMID 18395550.
• Tavendale R, Macgregor DF, Mukhopadhyay S, Palmer CN (2008). "A polymorphism controlling ORMDL3 expression is associated with asthma that is poorly controlled by current medications". J. Allergy Clin. Immunol. 121 (4): 860–3. doi:10.1016/j.jaci.2008.01.015. PMID 18395550.
• Sleiman PM, Annaiah K, Imielinski M, Bradfield JP, Kim CE, Frackelton EC, Glessner JT, Eckert AW, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson W, Garris M, Gunnlaugsson S, Chiavacci RM, Allen J, Spergel J, Grundmeier R, Grunstein MM, Magnusson M, Bisgaard H, Grant SF, Hakonarson H (2008). "ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry". J. Allergy Clin. Immunol. 122 (6): 1225–7. doi:10.1016/j.jaci.2008.06.041. PMID 18760456.
• Sleiman PM, Annaiah K, Imielinski M, Bradfield JP, Kim CE, Frackelton EC, Glessner JT, Eckert AW, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson W, Garris M, Gunnlaugsson S, Chiavacci RM, Allen J, Spergel J, Grundmeier R, Grunstein MM, Magnusson M, Bisgaard H, Grant SF, Hakonarson H (2008). "ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry". J. Allergy Clin. Immunol. 122 (6): 1225–7. doi:10.1016/j.jaci.2008.06.041. PMID 18760456.