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SMPD3 (sphingomyelin phosphodiesterase 3)

Identity

Alias_namessphingomyelin phosphodiesterase 3
Alias_symbol (synonym)NSMASE2
Other alias
HGNC (Hugo) SMPD3
LocusID (NCBI) 55512
Atlas_Id 50291
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 68358327 and ends at 68448506 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SMPD3 (16q22.1) / AP1G2 (14q11.2)SMPD3 (16q22.1) / MEIOB (16p13.3)SMPD3 16q22.1 / AP1G2 14q11.2
SMPD3 16q22.1 C16orf73

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)SMPD3   14240
Cards
Entrez_Gene (NCBI)SMPD3  55512  sphingomyelin phosphodiesterase 3
AliasesNSMASE2
GeneCards (Weizmann)SMPD3
Ensembl hg19 (Hinxton)ENSG00000103056 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103056 [Gene_View]  chr16:68358327-68448506 [Contig_View]  SMPD3 [Vega]
ICGC DataPortalENSG00000103056
TCGA cBioPortalSMPD3
AceView (NCBI)SMPD3
Genatlas (Paris)SMPD3
WikiGenes55512
SOURCE (Princeton)SMPD3
Genetics Home Reference (NIH)SMPD3
Genomic and cartography
GoldenPath hg38 (UCSC)SMPD3  -     chr16:68358327-68448506 -  16q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMPD3  -     16q22.1   [Description]    (hg19-Feb_2009)
EnsemblSMPD3 - 16q22.1 [CytoView hg19]  SMPD3 - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBISMPD3 [Mapview hg19]  SMPD3 [Mapview hg38]
OMIM605777   
Gene and transcription
Genbank (Entrez)AA461272 AJ250460 AK026246 AK289651 AL157660
RefSeq transcript (Entrez)NM_018667
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMPD3
Cluster EST : UnigeneHs.368421 [ NCBI ]
CGAP (NCI)Hs.368421
Alternative Splicing GalleryENSG00000103056
Gene ExpressionSMPD3 [ NCBI-GEO ]   SMPD3 [ EBI - ARRAY_EXPRESS ]   SMPD3 [ SEEK ]   SMPD3 [ MEM ]
Gene Expression Viewer (FireBrowse)SMPD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55512
GTEX Portal (Tissue expression)SMPD3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NY59   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NY59  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NY59
Splice isoforms : SwissVarQ9NY59
Catalytic activity : Enzyme3.1.4.12 [ Enzyme-Expasy ]   3.1.4.123.1.4.12 [ IntEnz-EBI ]   3.1.4.12 [ BRENDA ]   3.1.4.12 [ KEGG ]   
PhosPhoSitePlusQ9NY59
Domains : Interpro (EBI)Endo/exonuclease/phosphatase   
Domain families : Pfam (Sanger)Exo_endo_phos (PF03372)   
Domain families : Pfam (NCBI)pfam03372   
Conserved Domain (NCBI)SMPD3
DMDM Disease mutations55512
Blocks (Seattle)SMPD3
SuperfamilyQ9NY59
Human Protein AtlasENSG00000103056
Peptide AtlasQ9NY59
HPRD16154
IPIIPI00032902   IPI00003010   
Protein Interaction databases
DIP (DOE-UCLA)Q9NY59
IntAct (EBI)Q9NY59
FunCoupENSG00000103056
BioGRIDSMPD3
STRING (EMBL)SMPD3
ZODIACSMPD3
Ontologies - Pathways
QuickGOQ9NY59
Ontology : AmiGOGolgi cis cisterna  Golgi membrane  hematopoietic progenitor cell differentiation  sphingomyelin phosphodiesterase activity  plasma membrane  sphingomyelin catabolic process  glycosphingolipid metabolic process  cell cycle  peptide hormone secretion  metal ion binding  positive regulation of exosomal secretion  positive regulation of ceramide biosynthetic process  
Ontology : EGO-EBIGolgi cis cisterna  Golgi membrane  hematopoietic progenitor cell differentiation  sphingomyelin phosphodiesterase activity  plasma membrane  sphingomyelin catabolic process  glycosphingolipid metabolic process  cell cycle  peptide hormone secretion  metal ion binding  positive regulation of exosomal secretion  positive regulation of ceramide biosynthetic process  
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkSMPD3
Atlas of Cancer Signalling NetworkSMPD3
Wikipedia pathwaysSMPD3
Orthology - Evolution
OrthoDB55512
GeneTree (enSembl)ENSG00000103056
Phylogenetic Trees/Animal Genes : TreeFamSMPD3
HOVERGENQ9NY59
HOGENOMQ9NY59
Homologs : HomoloGeneSMPD3
Homology/Alignments : Family Browser (UCSC)SMPD3
Gene fusions - Rearrangements
Fusion : MitelmanSMPD3/AP1G2 [16q22.1/14q11.2]  
Fusion : MitelmanSMPD3/MEIOB [16q22.1/16p13.3]  [t(16;16)(p13;q22)]  
Fusion: TCGASMPD3 16q22.1 AP1G2 14q11.2 BRCA
Fusion: TCGASMPD3 16q22.1 C16orf73 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMPD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMPD3
dbVarSMPD3
ClinVarSMPD3
1000_GenomesSMPD3 
Exome Variant ServerSMPD3
ExAC (Exome Aggregation Consortium)SMPD3 (select the gene name)
Genetic variants : HAPMAP55512
Genomic Variants (DGV)SMPD3 [DGVbeta]
DECIPHERSMPD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMPD3 
Mutations
ICGC Data PortalSMPD3 
TCGA Data PortalSMPD3 
Broad Tumor PortalSMPD3
OASIS PortalSMPD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMPD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMPD3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMPD3
DgiDB (Drug Gene Interaction Database)SMPD3
DoCM (Curated mutations)SMPD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMPD3 (select a term)
intoGenSMPD3
Cancer3DSMPD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605777   
Orphanet
MedgenSMPD3
Genetic Testing Registry SMPD3
NextProtQ9NY59 [Medical]
TSGene55512
GENETestsSMPD3
Huge Navigator SMPD3 [HugePedia]
snp3D : Map Gene to Disease55512
BioCentury BCIQSMPD3
ClinGenSMPD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55512
Chemical/Pharm GKB GenePA37862
Clinical trialSMPD3
Miscellaneous
canSAR (ICR)SMPD3 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMPD3
EVEXSMPD3
GoPubMedSMPD3
iHOPSMPD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:38:15 CEST 2017

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