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ASAH2B (N-acylsphingosine amidohydrolase 2B)

Identity

Alias (NCBI)ASAH2C
ASAH2L
bA449O16.3
bA98I6.3
HGNC (Hugo) ASAH2B
HGNC Alias symbbA449O16.3
ASAH2L
bA98I6.3
HGNC Previous nameASAH2C
HGNC Previous nameN-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C
 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B
LocusID (NCBI) 653308
Atlas_Id 60544
Location 10q11.23  [Link to chromosome band 10q11]
Location_base_pair Starts at 50739936 and ends at 50759252 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)ASAH2B   23456
Cards
Entrez_Gene (NCBI)ASAH2B    N-acylsphingosine amidohydrolase 2B
AliasesASAH2C; ASAH2L; bA449O16.3; bA98I6.3
GeneCards (Weizmann)ASAH2B
Ensembl hg19 (Hinxton)ENSG00000204147 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204147 [Gene_View]  ENSG00000204147 [Sequence]  chr10:50739936-50759252 [Contig_View]  ASAH2B [Vega]
ICGC DataPortalENSG00000204147
TCGA cBioPortalASAH2B
AceView (NCBI)ASAH2B
Genatlas (Paris)ASAH2B
SOURCE (Princeton)ASAH2B
Genetics Home Reference (NIH)ASAH2B
Genomic and cartography
GoldenPath hg38 (UCSC)ASAH2B  -     chr10:50739936-50759252 +  10q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASAH2B  -     10q11.23   [Description]    (hg19-Feb_2009)
GoldenPathASAH2B - 10q11.23 [CytoView hg19]  ASAH2B - 10q11.23 [CytoView hg38]
ImmunoBaseENSG00000204147
Genome Data Viewer NCBIASAH2B [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK294369 BG773189 BI459539 CA312157 CN428611
RefSeq transcript (Entrez)NM_001079516 NM_001321957 NM_001321958 NM_001321959 NM_001321960
Consensus coding sequences : CCDS (NCBI)ASAH2B
Gene ExpressionASAH2B [ NCBI-GEO ]   ASAH2B [ EBI - ARRAY_EXPRESS ]   ASAH2B [ SEEK ]   ASAH2B [ MEM ]
Gene Expression Viewer (FireBrowse)ASAH2B [ Firebrowse - Broad ]
GenevisibleExpression of ASAH2B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)653308
GTEX Portal (Tissue expression)ASAH2B
Human Protein AtlasENSG00000204147-ASAH2B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0C7U1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0C7U1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0C7U1
PhosPhoSitePlusP0C7U1
Domains : Interpro (EBI)Ceramidase_alk    NCDase_C_sf    NEUT/ALK_ceramidase_C   
Domain families : Pfam (Sanger)Ceramidse_alk_C (PF17048)   
Domain families : Pfam (NCBI)pfam17048   
Conserved Domain (NCBI)ASAH2B
SuperfamilyP0C7U1
AlphaFold pdb e-kbP0C7U1   
Human Protein Atlas [tissue]ENSG00000204147-ASAH2B [tissue]
Protein Interaction databases
DIP (DOE-UCLA)P0C7U1
IntAct (EBI)P0C7U1
BioGRIDASAH2B
STRING (EMBL)ASAH2B
ZODIACASAH2B
Ontologies - Pathways
QuickGOP0C7U1
Ontology : AmiGOextracellular region  N-acylsphingosine amidohydrolase activity  long-chain fatty acid biosynthetic process  sphingosine biosynthetic process  ceramide catabolic process  
Ontology : EGO-EBIextracellular region  N-acylsphingosine amidohydrolase activity  long-chain fatty acid biosynthetic process  sphingosine biosynthetic process  ceramide catabolic process  
NDEx NetworkASAH2B
Atlas of Cancer Signalling NetworkASAH2B
Wikipedia pathwaysASAH2B
Orthology - Evolution
OrthoDB653308
GeneTree (enSembl)ENSG00000204147
Phylogenetic Trees/Animal Genes : TreeFamASAH2B
Homologs : HomoloGeneASAH2B
Homology/Alignments : Family Browser (UCSC)ASAH2B
Gene fusions - Rearrangements
Fusion : QuiverASAH2B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASAH2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASAH2B
dbVarASAH2B
ClinVarASAH2B
MonarchASAH2B
1000_GenomesASAH2B 
Exome Variant ServerASAH2B
GNOMAD BrowserENSG00000204147
Varsome BrowserASAH2B
ACMGASAH2B variants
VarityP0C7U1
Genomic Variants (DGV)ASAH2B [DGVbeta]
DECIPHERASAH2B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisASAH2B 
Mutations
ICGC Data PortalASAH2B 
TCGA Data PortalASAH2B 
Broad Tumor PortalASAH2B
OASIS PortalASAH2B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASAH2B  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DASAH2B
Mutations and Diseases : HGMDASAH2B
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaASAH2B
DgiDB (Drug Gene Interaction Database)ASAH2B
DoCM (Curated mutations)ASAH2B
CIViC (Clinical Interpretations of Variants in Cancer)ASAH2B
Cancer3DASAH2B
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETASAH2B
MedgenASAH2B
Genetic Testing Registry ASAH2B
NextProtP0C7U1 [Medical]
GENETestsASAH2B
Target ValidationASAH2B
Huge Navigator ASAH2B [HugePedia]
ClinGenASAH2B
Clinical trials, drugs, therapy
MyCancerGenomeASAH2B
Protein Interactions : CTDASAH2B
Pharm GKB GenePA134977109
PharosP0C7U1
Clinical trialASAH2B
Miscellaneous
canSAR (ICR)ASAH2B
HarmonizomeASAH2B
DataMed IndexASAH2B
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXASAH2B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:42:42 CEST 2021

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