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ORMDL3 (ORMDL sphingolipid biosynthesis regulator 3)

Identity

Alias (NCBI)-
HGNC (Hugo) ORMDL3
HGNC Previous nameORM1 (S. cerevisiae)-like 3
 ORM1-like 3 (S. cerevisiae)
LocusID (NCBI) 94103
Atlas_Id 54519
Location 17q21.1  [Link to chromosome band 17q21]
Location_base_pair Starts at 39921043 and ends at 39927601 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CPD (17q11.2) / ORMDL3 (17q12)KANSL1 (17q21.31) / ORMDL3 (17q12)NOL4L20q11.21 () / ORMDL3 (17q12)
OLA1 (2q31.1) / ORMDL3 (17q12)ORMDL3 (17q12) / ZPBP2 (17q12)CPD 17q11.2 / ORMDL3 17q12
KIAA1267 ORMDL3 17q12ORMDL3 17q12 / ZPBP2 17q12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)ORMDL3   16038
Cards
Entrez_Gene (NCBI)ORMDL3    ORMDL sphingolipid biosynthesis regulator 3
Aliases
GeneCards (Weizmann)ORMDL3
Ensembl hg19 (Hinxton)ENSG00000172057 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172057 [Gene_View]  ENSG00000172057 [Sequence]  chr17:39921043-39927601 [Contig_View]  ORMDL3 [Vega]
ICGC DataPortalENSG00000172057
TCGA cBioPortalORMDL3
AceView (NCBI)ORMDL3
Genatlas (Paris)ORMDL3
SOURCE (Princeton)ORMDL3
Genetics Home Reference (NIH)ORMDL3
Genomic and cartography
GoldenPath hg38 (UCSC)ORMDL3  -     chr17:39921043-39927601 -  17q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ORMDL3  -     17q21.1   [Description]    (hg19-Feb_2009)
GoldenPathORMDL3 - 17q21.1 [CytoView hg19]  ORMDL3 - 17q21.1 [CytoView hg38]
ImmunoBaseENSG00000172057
Genome Data Viewer NCBIORMDL3 [Mapview hg19]  
OMIM610075   
Gene and transcription
Genbank (Entrez)AF151043 AF373101 AF373102 AF395708 AK074811
RefSeq transcript (Entrez)NM_001320801 NM_001320802 NM_001320803 NM_016471 NM_139280
Consensus coding sequences : CCDS (NCBI)ORMDL3
Gene ExpressionORMDL3 [ NCBI-GEO ]   ORMDL3 [ EBI - ARRAY_EXPRESS ]   ORMDL3 [ SEEK ]   ORMDL3 [ MEM ]
Gene Expression Viewer (FireBrowse)ORMDL3 [ Firebrowse - Broad ]
GenevisibleExpression of ORMDL3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)94103
GTEX Portal (Tissue expression)ORMDL3
Human Protein AtlasENSG00000172057-ORMDL3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N138   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N138  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N138
PhosPhoSitePlusQ8N138
Domains : Interpro (EBI)ORMDL    ORML3   
Domain families : Pfam (Sanger)ORMDL (PF04061)   
Domain families : Pfam (NCBI)pfam04061   
Conserved Domain (NCBI)ORMDL3
SuperfamilyQ8N138
AlphaFold pdb e-kbQ8N138   
Human Protein Atlas [tissue]ENSG00000172057-ORMDL3 [tissue]
HPRD17803
Protein Interaction databases
DIP (DOE-UCLA)Q8N138
IntAct (EBI)Q8N138
BioGRIDORMDL3
STRING (EMBL)ORMDL3
ZODIACORMDL3
Ontologies - Pathways
QuickGOQ8N138
Ontology : AmiGOnegative regulation of B cell apoptotic process  protein binding  endoplasmic reticulum  plasma membrane  ceramide metabolic process  ceramide metabolic process  sphingomyelin biosynthetic process  regulation of smooth muscle contraction  positive regulation of autophagy  positive regulation of autophagy  integral component of membrane  secretory granule membrane  SPOTS complex  SPOTS complex  specific granule membrane  myelination  neutrophil degranulation  motor behavior  cellular sphingolipid homeostasis  negative regulation of ceramide biosynthetic process  negative regulation of ceramide biosynthetic process  positive regulation of protein localization to nucleus  negative regulation of serine C-palmitoyltransferase activity  
Ontology : EGO-EBInegative regulation of B cell apoptotic process  protein binding  endoplasmic reticulum  plasma membrane  ceramide metabolic process  ceramide metabolic process  sphingomyelin biosynthetic process  regulation of smooth muscle contraction  positive regulation of autophagy  positive regulation of autophagy  integral component of membrane  secretory granule membrane  SPOTS complex  SPOTS complex  specific granule membrane  myelination  neutrophil degranulation  motor behavior  cellular sphingolipid homeostasis  negative regulation of ceramide biosynthetic process  negative regulation of ceramide biosynthetic process  positive regulation of protein localization to nucleus  negative regulation of serine C-palmitoyltransferase activity  
NDEx NetworkORMDL3
Atlas of Cancer Signalling NetworkORMDL3
Wikipedia pathwaysORMDL3
Orthology - Evolution
OrthoDB94103
GeneTree (enSembl)ENSG00000172057
Phylogenetic Trees/Animal Genes : TreeFamORMDL3
Homologs : HomoloGeneORMDL3
Homology/Alignments : Family Browser (UCSC)ORMDL3
Gene fusions - Rearrangements
Fusion : MitelmanCPD/ORMDL3 [17q11.2/17q12]  
Fusion : MitelmanKANSL1/ORMDL3 [17q21.31/17q12]  
Fusion : MitelmanOLA1/ORMDL3 [2q31.1/17q12]  
Fusion : QuiverORMDL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerORMDL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ORMDL3
dbVarORMDL3
ClinVarORMDL3
MonarchORMDL3
1000_GenomesORMDL3 
Exome Variant ServerORMDL3
GNOMAD BrowserENSG00000172057
Varsome BrowserORMDL3
ACMGORMDL3 variants
VarityQ8N138
Genomic Variants (DGV)ORMDL3 [DGVbeta]
DECIPHERORMDL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisORMDL3 
Mutations
ICGC Data PortalORMDL3 
TCGA Data PortalORMDL3 
Broad Tumor PortalORMDL3
OASIS PortalORMDL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICORMDL3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DORMDL3
Mutations and Diseases : HGMDORMDL3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaORMDL3
DgiDB (Drug Gene Interaction Database)ORMDL3
DoCM (Curated mutations)ORMDL3
CIViC (Clinical Interpretations of Variants in Cancer)ORMDL3
Cancer3DORMDL3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610075   
Orphanet
DisGeNETORMDL3
MedgenORMDL3
Genetic Testing Registry ORMDL3
NextProtQ8N138 [Medical]
GENETestsORMDL3
Target ValidationORMDL3
Huge Navigator ORMDL3 [HugePedia]
ClinGenORMDL3
Clinical trials, drugs, therapy
MyCancerGenomeORMDL3
Protein Interactions : CTDORMDL3
Pharm GKB GenePA32821
PharosQ8N138
Clinical trialORMDL3
Miscellaneous
canSAR (ICR)ORMDL3
HarmonizomeORMDL3
DataMed IndexORMDL3
Probes
Litterature
PubMed109 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXORMDL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:23:53 CEST 2021

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