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SGMS2 (sphingomyelin synthase 2)

Identity

Alias_symbol (synonym)MGC26963
SMS2
Other alias
HGNC (Hugo) SGMS2
LocusID (NCBI) 166929
Atlas_Id 41354
Location 4q25  [Link to chromosome band 4q25]
Location_base_pair Starts at 107893264 and ends at 107915047 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)SGMS2   28395
Cards
Entrez_Gene (NCBI)SGMS2  166929  sphingomyelin synthase 2
AliasesSMS2
GeneCards (Weizmann)SGMS2
Ensembl hg19 (Hinxton)ENSG00000164023 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164023 [Gene_View]  chr4:107893264-107915047 [Contig_View]  SGMS2 [Vega]
ICGC DataPortalENSG00000164023
TCGA cBioPortalSGMS2
AceView (NCBI)SGMS2
Genatlas (Paris)SGMS2
WikiGenes166929
SOURCE (Princeton)SGMS2
Genetics Home Reference (NIH)SGMS2
Genomic and cartography
GoldenPath hg38 (UCSC)SGMS2  -     chr4:107893264-107915047 +  4q25   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SGMS2  -     4q25   [Description]    (hg19-Feb_2009)
EnsemblSGMS2 - 4q25 [CytoView hg19]  SGMS2 - 4q25 [CytoView hg38]
Mapping of homologs : NCBISGMS2 [Mapview hg19]  SGMS2 [Mapview hg38]
OMIM611574   
Gene and transcription
Genbank (Entrez)AF452717 AK290344 AK314049 AL833599 BC028705
RefSeq transcript (Entrez)NM_001136257 NM_001136258 NM_152621
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SGMS2
Cluster EST : UnigeneHs.595423 [ NCBI ]
CGAP (NCI)Hs.595423
Alternative Splicing GalleryENSG00000164023
Gene ExpressionSGMS2 [ NCBI-GEO ]   SGMS2 [ EBI - ARRAY_EXPRESS ]   SGMS2 [ SEEK ]   SGMS2 [ MEM ]
Gene Expression Viewer (FireBrowse)SGMS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)166929
GTEX Portal (Tissue expression)SGMS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NHU3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NHU3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NHU3
Splice isoforms : SwissVarQ8NHU3
Catalytic activity : Enzyme2.7.8.27 [ Enzyme-Expasy ]   2.7.8.272.7.8.27 [ IntEnz-EBI ]   2.7.8.27 [ BRENDA ]   2.7.8.27 [ KEGG ]   
PhosPhoSitePlusQ8NHU3
Domains : Interpro (EBI)Sphingomyelin_synth-like_dom   
Domain families : Pfam (Sanger)PAP2_C (PF14360)   
Domain families : Pfam (NCBI)pfam14360   
Conserved Domain (NCBI)SGMS2
DMDM Disease mutations166929
Blocks (Seattle)SGMS2
SuperfamilyQ8NHU3
Human Protein AtlasENSG00000164023
Peptide AtlasQ8NHU3
HPRD11323
IPIIPI00169331   IPI00983995   IPI00985164   IPI00984588   
Protein Interaction databases
DIP (DOE-UCLA)Q8NHU3
IntAct (EBI)Q8NHU3
FunCoupENSG00000164023
BioGRIDSGMS2
STRING (EMBL)SGMS2
ZODIACSGMS2
Ontologies - Pathways
QuickGOQ8NHU3
Ontology : AmiGOceramide phosphoethanolamine synthase activity  Golgi apparatus  plasma membrane  integral component of plasma membrane  sphingomyelin biosynthetic process  kinase activity  phosphorylation  sphingolipid biosynthetic process  integral component of Golgi membrane  integral component of endoplasmic reticulum membrane  sphingomyelin synthase activity  sphingomyelin synthase activity  ceramide biosynthetic process  ceramide cholinephosphotransferase activity  ceramide phosphoethanolamine biosynthetic process  
Ontology : EGO-EBIceramide phosphoethanolamine synthase activity  Golgi apparatus  plasma membrane  integral component of plasma membrane  sphingomyelin biosynthetic process  kinase activity  phosphorylation  sphingolipid biosynthetic process  integral component of Golgi membrane  integral component of endoplasmic reticulum membrane  sphingomyelin synthase activity  sphingomyelin synthase activity  ceramide biosynthetic process  ceramide cholinephosphotransferase activity  ceramide phosphoethanolamine biosynthetic process  
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkSGMS2
Atlas of Cancer Signalling NetworkSGMS2
Wikipedia pathwaysSGMS2
Orthology - Evolution
OrthoDB166929
GeneTree (enSembl)ENSG00000164023
Phylogenetic Trees/Animal Genes : TreeFamSGMS2
HOVERGENQ8NHU3
HOGENOMQ8NHU3
Homologs : HomoloGeneSGMS2
Homology/Alignments : Family Browser (UCSC)SGMS2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSGMS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGMS2
dbVarSGMS2
ClinVarSGMS2
1000_GenomesSGMS2 
Exome Variant ServerSGMS2
ExAC (Exome Aggregation Consortium)SGMS2 (select the gene name)
Genetic variants : HAPMAP166929
Genomic Variants (DGV)SGMS2 [DGVbeta]
DECIPHERSGMS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSGMS2 
Mutations
ICGC Data PortalSGMS2 
TCGA Data PortalSGMS2 
Broad Tumor PortalSGMS2
OASIS PortalSGMS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSGMS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSGMS2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SGMS2
DgiDB (Drug Gene Interaction Database)SGMS2
DoCM (Curated mutations)SGMS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SGMS2 (select a term)
intoGenSGMS2
Cancer3DSGMS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611574   
Orphanet
MedgenSGMS2
Genetic Testing Registry SGMS2
NextProtQ8NHU3 [Medical]
TSGene166929
GENETestsSGMS2
Huge Navigator SGMS2 [HugePedia]
snp3D : Map Gene to Disease166929
BioCentury BCIQSGMS2
ClinGenSGMS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD166929
Chemical/Pharm GKB GenePA162403069
Clinical trialSGMS2
Miscellaneous
canSAR (ICR)SGMS2 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSGMS2
EVEXSGMS2
GoPubMedSGMS2
iHOPSGMS2
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 12:36:59 CEST 2017

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