ORMDL3 (ORMDL sphingolipid biosynthesis regulator 3)

2014-08-01  

Identity

HGNC
LOCATION
17q21.1
LOCUSID
ALIAS
-
FUSION GENES

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

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
384177942024ORMDL3 regulates NLRP3 inflammasome activation by maintaining ER-mitochondria contacts in human macrophages and dictates ulcerative colitis patient outcome.0
384177942024ORMDL3 regulates NLRP3 inflammasome activation by maintaining ER-mitochondria contacts in human macrophages and dictates ulcerative colitis patient outcome.0
353216322023Increased expression of ORMDL3 in allergic asthma: a case control and in vitro study.0
374993922023Evaluation of the association between clinical parameters and ADAM33 and ORMDL3 asthma gene single-nucleotide polymorphisms with the severity of COVID-19.1
378775922023Histone acetylation regulates ORMDL3 expression-mediated NLRP3 inflammasome overexpression during RSV-allergic exacerbation mice.1
353216322023Increased expression of ORMDL3 in allergic asthma: a case control and in vitro study.0
374993922023Evaluation of the association between clinical parameters and ADAM33 and ORMDL3 asthma gene single-nucleotide polymorphisms with the severity of COVID-19.1
378775922023Histone acetylation regulates ORMDL3 expression-mediated NLRP3 inflammasome overexpression during RSV-allergic exacerbation mice.1
353536732022Asthma Susceptibility Gene ORMDL3 Promotes Autophagy in Human Bronchial Epithelium.3
359726002022Regulation of the sensitivity of hepatocarcinoma cells by ORMDL3, to sorafenib by autophagy.0
353536732022Asthma Susceptibility Gene ORMDL3 Promotes Autophagy in Human Bronchial Epithelium.3
359726002022Regulation of the sensitivity of hepatocarcinoma cells by ORMDL3, to sorafenib by autophagy.0
335587622021Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex.37
336617652021ORMDL3 expression in ASM regulates hypertrophy, hyperplasia via TPM1 and TPM4, and contractility.6
339414342021ORMDL3/GSDMB genotype is associated with distinct phenotypes of adult asthma.2

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-(ormdl-sphingolipid-biosynthesis-regulator-3)