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SMPDL3B (sphingomyelin phosphodiesterase, acid-like 3B)

Identity

Alias_namessphingomyelin phosphodiesterase, acid-like 3B
sphingomyelin phosphodiesterase acid-like 3B
Alias_symbol (synonym)ASML3B
Other alias
HGNC (Hugo) SMPDL3B
LocusID (NCBI) 27293
Atlas_Id 73590
Location 1p35.3  [Link to chromosome band 1p35]
Location_base_pair Starts at 28261466 and ends at 28282991 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SMPDL3B (1p35.3) / DNAJB12 (10q22.1)SMPDL3B (1p35.3) / SNX1 (15q22.31)

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)SMPDL3B   21416
Cards
Entrez_Gene (NCBI)SMPDL3B  27293  sphingomyelin phosphodiesterase, acid-like 3B
AliasesASML3B
GeneCards (Weizmann)SMPDL3B
Ensembl hg19 (Hinxton)ENSG00000130768 [Gene_View]  chr1:28261466-28282991 [Contig_View]  SMPDL3B [Vega]
Ensembl hg38 (Hinxton)ENSG00000130768 [Gene_View]  chr1:28261466-28282991 [Contig_View]  SMPDL3B [Vega]
ICGC DataPortalENSG00000130768
TCGA cBioPortalSMPDL3B
AceView (NCBI)SMPDL3B
Genatlas (Paris)SMPDL3B
WikiGenes27293
SOURCE (Princeton)SMPDL3B
Genetics Home Reference (NIH)SMPDL3B
Genomic and cartography
GoldenPath hg19 (UCSC)SMPDL3B  -     chr1:28261466-28282991 +  1p35.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMPDL3B  -     1p35.3   [Description]    (hg38-Dec_2013)
EnsemblSMPDL3B - 1p35.3 [CytoView hg19]  SMPDL3B - 1p35.3 [CytoView hg38]
Mapping of homologs : NCBISMPDL3B [Mapview hg19]  SMPDL3B [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK293489 AK293566 AK301349 AK316500 BC014444
RefSeq transcript (Entrez)NM_001009568 NM_001304579 NM_014474
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)SMPDL3B
Cluster EST : UnigeneHs.123659 [ NCBI ]
CGAP (NCI)Hs.123659
Alternative Splicing GalleryENSG00000130768
Gene ExpressionSMPDL3B [ NCBI-GEO ]   SMPDL3B [ EBI - ARRAY_EXPRESS ]   SMPDL3B [ SEEK ]   SMPDL3B [ MEM ]
Gene Expression Viewer (FireBrowse)SMPDL3B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27293
GTEX Portal (Tissue expression)SMPDL3B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92485   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92485  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92485
Splice isoforms : SwissVarQ92485
Catalytic activity : Enzyme3.1.4.- [ Enzyme-Expasy ]   3.1.4.-3.1.4.- [ IntEnz-EBI ]   3.1.4.- [ BRENDA ]   3.1.4.- [ KEGG ]   
PhosPhoSitePlusQ92485
Domains : Interpro (EBI)ASM-like_Pdiesterase_prd    Calcineurin-like_PHP_apaH    Metallo-depent_PP-like   
Domain families : Pfam (Sanger)Metallophos (PF00149)   
Domain families : Pfam (NCBI)pfam00149   
Conserved Domain (NCBI)SMPDL3B
DMDM Disease mutations27293
Blocks (Seattle)SMPDL3B
SuperfamilyQ92485
Human Protein AtlasENSG00000130768
Peptide AtlasQ92485
HPRD15405
IPIIPI00550115   IPI00386427   IPI00908315   IPI01021064   IPI01020893   IPI00514631   
Protein Interaction databases
DIP (DOE-UCLA)Q92485
IntAct (EBI)Q92485
FunCoupENSG00000130768
BioGRIDSMPDL3B
STRING (EMBL)SMPDL3B
ZODIACSMPDL3B
Ontologies - Pathways
QuickGOQ92485
Ontology : AmiGOmolecular_function  sphingomyelin phosphodiesterase activity  extracellular space  sphingomyelin catabolic process  biological_process  hydrolase activity, acting on glycosyl bonds  extracellular exosome  
Ontology : EGO-EBImolecular_function  sphingomyelin phosphodiesterase activity  extracellular space  sphingomyelin catabolic process  biological_process  hydrolase activity, acting on glycosyl bonds  extracellular exosome  
NDEx NetworkSMPDL3B
Atlas of Cancer Signalling NetworkSMPDL3B
Wikipedia pathwaysSMPDL3B
Orthology - Evolution
OrthoDB27293
GeneTree (enSembl)ENSG00000130768
Phylogenetic Trees/Animal Genes : TreeFamSMPDL3B
HOVERGENQ92485
HOGENOMQ92485
Homologs : HomoloGeneSMPDL3B
Homology/Alignments : Family Browser (UCSC)SMPDL3B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMPDL3B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMPDL3B
dbVarSMPDL3B
ClinVarSMPDL3B
1000_GenomesSMPDL3B 
Exome Variant ServerSMPDL3B
ExAC (Exome Aggregation Consortium)SMPDL3B (select the gene name)
Genetic variants : HAPMAP27293
Genomic Variants (DGV)SMPDL3B [DGVbeta]
DECIPHER (Syndromes)1:28261466-28282991  ENSG00000130768
CONAN: Copy Number AnalysisSMPDL3B 
Mutations
ICGC Data PortalSMPDL3B 
TCGA Data PortalSMPDL3B 
Broad Tumor PortalSMPDL3B
OASIS PortalSMPDL3B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMPDL3B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMPDL3B
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 SMPDL3B
DgiDB (Drug Gene Interaction Database)SMPDL3B
DoCM (Curated mutations)SMPDL3B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMPDL3B (select a term)
intoGenSMPDL3B
Cancer3DSMPDL3B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenSMPDL3B
Genetic Testing Registry SMPDL3B
NextProtQ92485 [Medical]
TSGene27293
GENETestsSMPDL3B
Huge Navigator SMPDL3B [HugePedia]
snp3D : Map Gene to Disease27293
BioCentury BCIQSMPDL3B
ClinGenSMPDL3B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27293
Chemical/Pharm GKB GenePA134889099
Clinical trialSMPDL3B
Miscellaneous
canSAR (ICR)SMPDL3B (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMPDL3B
EVEXSMPDL3B
GoPubMedSMPDL3B
iHOPSMPDL3B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:44:18 CET 2017

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