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ORMDL3 (ORMDL sphingolipid biosynthesis regulator 3)

Identity

Alias_namesORM1 (S. cerevisiae)-like 3
ORM1-like 3 (S. cerevisiae)
Other alias-
HGNC (Hugo) ORMDL3
LocusID (NCBI) 94103
Atlas_Id 54519
Location 17q21.1  [Link to chromosome band 17q21]
Location_base_pair Starts at 39921041 and ends at 39926846 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  94103  ORMDL sphingolipid biosynthesis regulator 3
Aliases
GeneCards (Weizmann)ORMDL3
Ensembl hg19 (Hinxton)ENSG00000172057 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172057 [Gene_View]  chr17:39921041-39926846 [Contig_View]  ORMDL3 [Vega]
ICGC DataPortalENSG00000172057
TCGA cBioPortalORMDL3
AceView (NCBI)ORMDL3
Genatlas (Paris)ORMDL3
WikiGenes94103
SOURCE (Princeton)ORMDL3
Genetics Home Reference (NIH)ORMDL3
Genomic and cartography
GoldenPath hg38 (UCSC)ORMDL3  -     chr17:39921041-39926846 -  17q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ORMDL3  -     17q21.1   [Description]    (hg19-Feb_2009)
EnsemblORMDL3 - 17q21.1 [CytoView hg19]  ORMDL3 - 17q21.1 [CytoView hg38]
Mapping of homologs : NCBIORMDL3 [Mapview hg19]  ORMDL3 [Mapview hg38]
OMIM610075   
Gene and transcription
Genbank (Entrez)AF151043 AF373101 AF373102 AF395708 AK074811
RefSeq transcript (Entrez)NM_001320801 NM_001320802 NM_001320803 NM_016471 NM_139280
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ORMDL3
Cluster EST : UnigeneHs.735682 [ NCBI ]
CGAP (NCI)Hs.735682
Alternative Splicing GalleryENSG00000172057
Gene ExpressionORMDL3 [ NCBI-GEO ]   ORMDL3 [ EBI - ARRAY_EXPRESS ]   ORMDL3 [ SEEK ]   ORMDL3 [ MEM ]
Gene Expression Viewer (FireBrowse)ORMDL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)94103
GTEX Portal (Tissue expression)ORMDL3
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
Splice isoforms : SwissVarQ8N138
PhosPhoSitePlusQ8N138
Domains : Interpro (EBI)ORMDL    ORML3   
Domain families : Pfam (Sanger)ORMDL (PF04061)   
Domain families : Pfam (NCBI)pfam04061   
Conserved Domain (NCBI)ORMDL3
DMDM Disease mutations94103
Blocks (Seattle)ORMDL3
SuperfamilyQ8N138
Human Protein AtlasENSG00000172057
Peptide AtlasQ8N138
HPRD17803
IPIIPI00166066   IPI00654634   IPI00383267   
Protein Interaction databases
DIP (DOE-UCLA)Q8N138
IntAct (EBI)Q8N138
FunCoupENSG00000172057
BioGRIDORMDL3
STRING (EMBL)ORMDL3
ZODIACORMDL3
Ontologies - Pathways
QuickGOQ8N138
Ontology : AmiGOprotein binding  endoplasmic reticulum  plasma membrane  ceramide metabolic process  integral component of membrane  secretory granule membrane  SPOTS complex  specific granule membrane  neutrophil degranulation  cellular sphingolipid homeostasis  negative regulation of ceramide biosynthetic process  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  plasma membrane  ceramide metabolic process  integral component of membrane  secretory granule membrane  SPOTS complex  specific granule membrane  neutrophil degranulation  cellular sphingolipid homeostasis  negative regulation of ceramide biosynthetic process  
NDEx NetworkORMDL3
Atlas of Cancer Signalling NetworkORMDL3
Wikipedia pathwaysORMDL3
Orthology - Evolution
OrthoDB94103
GeneTree (enSembl)ENSG00000172057
Phylogenetic Trees/Animal Genes : TreeFamORMDL3
HOVERGENQ8N138
HOGENOMQ8N138
Homologs : HomoloGeneORMDL3
Homology/Alignments : Family Browser (UCSC)ORMDL3
Gene fusions - Rearrangements
Fusion : MitelmanCPD/ORMDL3 [17q11.2/17q12]  [t(17;17)(q11;q12)]  
Fusion : MitelmanKANSL1/ORMDL3 [17q21.31/17q12]  [t(17;17)(q12;q21)]  
Fusion : MitelmanOLA1/ORMDL3 [2q31.1/17q12]  [t(2;17)(q31;q12)]  
Fusion: TCGACPD 17q11.2 ORMDL3 17q12 LUAD
Fusion: TCGAKIAA1267 ORMDL3 17q12 BRCA
Fusion: TCGAORMDL3 17q12 ZPBP2 17q12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerORMDL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ORMDL3
dbVarORMDL3
ClinVarORMDL3
1000_GenomesORMDL3 
Exome Variant ServerORMDL3
ExAC (Exome Aggregation Consortium)ORMDL3 (select the gene name)
Genetic variants : HAPMAP94103
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]  
Mutations and Diseases : HGMDORMDL3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ORMDL3
DgiDB (Drug Gene Interaction Database)ORMDL3
DoCM (Curated mutations)ORMDL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ORMDL3 (select a term)
intoGenORMDL3
Cancer3DORMDL3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610075   
Orphanet
MedgenORMDL3
Genetic Testing Registry ORMDL3
NextProtQ8N138 [Medical]
TSGene94103
GENETestsORMDL3
Target ValidationORMDL3
Huge Navigator ORMDL3 [HugePedia]
snp3D : Map Gene to Disease94103
BioCentury BCIQORMDL3
ClinGenORMDL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD94103
Chemical/Pharm GKB GenePA32821
Clinical trialORMDL3
Miscellaneous
canSAR (ICR)ORMDL3 (select the gene name)
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineORMDL3
EVEXORMDL3
GoPubMedORMDL3
iHOPORMDL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:48:04 CEST 2017

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