Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SMPD2 (sphingomyelin phosphodiesterase 2)

Identity

Alias_namessphingomyelin phosphodiesterase 2
Alias_symbol (synonym)nSMase
ISC1
Other aliasNSMASE
NSMASE1
HGNC (Hugo) SMPD2
LocusID (NCBI) 6610
Atlas_Id 52064
Location 6q21  [Link to chromosome band 6q21]
Location_base_pair Starts at 109440728 and ends at 109443919 bp from pter ( according to hg38-Dec_2013)

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)SMPD2   11121
Cards
Entrez_Gene (NCBI)SMPD2  6610  sphingomyelin phosphodiesterase 2
AliasesISC1; NSMASE; NSMASE1
GeneCards (Weizmann)SMPD2
Ensembl hg19 (Hinxton)ENSG00000135587 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135587 [Gene_View]  chr6:109440728-109443919 [Contig_View]  SMPD2 [Vega]
ICGC DataPortalENSG00000135587
TCGA cBioPortalSMPD2
AceView (NCBI)SMPD2
Genatlas (Paris)SMPD2
WikiGenes6610
SOURCE (Princeton)SMPD2
Genetics Home Reference (NIH)SMPD2
Genomic and cartography
GoldenPath hg38 (UCSC)SMPD2  -     chr6:109440728-109443919 +  6q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMPD2  -     6q21   [Description]    (hg19-Feb_2009)
EnsemblSMPD2 - 6q21 [CytoView hg19]  SMPD2 - 6q21 [CytoView hg38]
Mapping of homologs : NCBISMPD2 [Mapview hg19]  SMPD2 [Mapview hg38]
OMIM603498   
Gene and transcription
Genbank (Entrez)AJ222801 AK310148 AK313515 BC000038 CA314251
RefSeq transcript (Entrez)NM_003080
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMPD2
Cluster EST : UnigeneHs.55235 [ NCBI ]
CGAP (NCI)Hs.55235
Alternative Splicing GalleryENSG00000135587
Gene ExpressionSMPD2 [ NCBI-GEO ]   SMPD2 [ EBI - ARRAY_EXPRESS ]   SMPD2 [ SEEK ]   SMPD2 [ MEM ]
Gene Expression Viewer (FireBrowse)SMPD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6610
GTEX Portal (Tissue expression)SMPD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60906   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60906  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60906
Splice isoforms : SwissVarO60906
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 ]   
PhosPhoSitePlusO60906
Domains : Interpro (EBI)Endo/exonuclease/phosphatase   
Domain families : Pfam (Sanger)Exo_endo_phos (PF03372)   
Domain families : Pfam (NCBI)pfam03372   
Conserved Domain (NCBI)SMPD2
DMDM Disease mutations6610
Blocks (Seattle)SMPD2
SuperfamilyO60906
Human Protein AtlasENSG00000135587
Peptide AtlasO60906
HPRD04608
IPIIPI00017670   IPI00646648   IPI00514319   
Protein Interaction databases
DIP (DOE-UCLA)O60906
IntAct (EBI)O60906
FunCoupENSG00000135587
BioGRIDSMPD2
STRING (EMBL)SMPD2
ZODIACSMPD2
Ontologies - Pathways
QuickGOO60906
Ontology : AmiGOsphingomyelin phosphodiesterase activity  intracellular  plasma membrane  integral component of plasma membrane  caveola  sphingomyelin metabolic process  glycosphingolipid metabolic process  response to mechanical stimulus  intracellular signal transduction  ceramide biosynthetic process  metal ion binding  positive regulation of ceramide biosynthetic process  
Ontology : EGO-EBIsphingomyelin phosphodiesterase activity  intracellular  plasma membrane  integral component of plasma membrane  caveola  sphingomyelin metabolic process  glycosphingolipid metabolic process  response to mechanical stimulus  intracellular signal transduction  ceramide biosynthetic process  metal ion binding  positive regulation of ceramide biosynthetic process  
Pathways : BIOCARTAPhospholipids as signalling intermediaries [Genes]   
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkSMPD2
Atlas of Cancer Signalling NetworkSMPD2
Wikipedia pathwaysSMPD2
Orthology - Evolution
OrthoDB6610
GeneTree (enSembl)ENSG00000135587
Phylogenetic Trees/Animal Genes : TreeFamSMPD2
HOVERGENO60906
HOGENOMO60906
Homologs : HomoloGeneSMPD2
Homology/Alignments : Family Browser (UCSC)SMPD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMPD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMPD2
dbVarSMPD2
ClinVarSMPD2
1000_GenomesSMPD2 
Exome Variant ServerSMPD2
ExAC (Exome Aggregation Consortium)SMPD2 (select the gene name)
Genetic variants : HAPMAP6610
Genomic Variants (DGV)SMPD2 [DGVbeta]
DECIPHERSMPD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMPD2 
Mutations
ICGC Data PortalSMPD2 
TCGA Data PortalSMPD2 
Broad Tumor PortalSMPD2
OASIS PortalSMPD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMPD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMPD2
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 SMPD2
DgiDB (Drug Gene Interaction Database)SMPD2
DoCM (Curated mutations)SMPD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMPD2 (select a term)
intoGenSMPD2
Cancer3DSMPD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603498   
Orphanet
MedgenSMPD2
Genetic Testing Registry SMPD2
NextProtO60906 [Medical]
TSGene6610
GENETestsSMPD2
Target ValidationSMPD2
Huge Navigator SMPD2 [HugePedia]
snp3D : Map Gene to Disease6610
BioCentury BCIQSMPD2
ClinGenSMPD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6610
Chemical/Pharm GKB GenePA35970
Clinical trialSMPD2
Miscellaneous
canSAR (ICR)SMPD2 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMPD2
EVEXSMPD2
GoPubMedSMPD2
iHOPSMPD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:32:09 CEST 2017

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