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ACER2 (alkaline ceramidase 2)

Identity

Alias_namesASAH3L
N-acylsphingosine amidohydrolase 3-like
Alias_symbol (synonym)FLJ41587
Other aliasALKCDase2
HGNC (Hugo) ACER2
LocusID (NCBI) 340485
Atlas_Id 51740
Location 9p22.1  [Link to chromosome band 9p22]
Location_base_pair Starts at 19408927 and ends at 19452502 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACER2 (9p22.1) / C8orf37 (8q22.1)ACER2 (9p22.1) / CSH1 (17q23.3)ACER2 9p22.1 / C8orf37 8q22.1

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)ACER2   23675
Cards
Entrez_Gene (NCBI)ACER2  340485  alkaline ceramidase 2
AliasesALKCDase2; ASAH3L
GeneCards (Weizmann)ACER2
Ensembl hg19 (Hinxton)ENSG00000177076 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177076 [Gene_View]  chr9:19408927-19452502 [Contig_View]  ACER2 [Vega]
ICGC DataPortalENSG00000177076
TCGA cBioPortalACER2
AceView (NCBI)ACER2
Genatlas (Paris)ACER2
WikiGenes340485
SOURCE (Princeton)ACER2
Genetics Home Reference (NIH)ACER2
Genomic and cartography
GoldenPath hg38 (UCSC)ACER2  -     chr9:19408927-19452502 +  9p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACER2  -     9p22.1   [Description]    (hg19-Feb_2009)
EnsemblACER2 - 9p22.1 [CytoView hg19]  ACER2 - 9p22.1 [CytoView hg38]
Mapping of homologs : NCBIACER2 [Mapview hg19]  ACER2 [Mapview hg38]
OMIM613492   
Gene and transcription
Genbank (Entrez)AF370405 AK024898 AK123581 AY312516 BC092487
RefSeq transcript (Entrez)NM_001010887
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACER2
Cluster EST : UnigeneHs.99785 [ NCBI ]
CGAP (NCI)Hs.99785
Alternative Splicing GalleryENSG00000177076
Gene ExpressionACER2 [ NCBI-GEO ]   ACER2 [ EBI - ARRAY_EXPRESS ]   ACER2 [ SEEK ]   ACER2 [ MEM ]
Gene Expression Viewer (FireBrowse)ACER2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)340485
GTEX Portal (Tissue expression)ACER2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5QJU3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5QJU3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5QJU3
Splice isoforms : SwissVarQ5QJU3
Catalytic activity : Enzyme3.5.1.23 [ Enzyme-Expasy ]   3.5.1.233.5.1.23 [ IntEnz-EBI ]   3.5.1.23 [ BRENDA ]   3.5.1.23 [ KEGG ]   
PhosPhoSitePlusQ5QJU3
Domains : Interpro (EBI)Ceramidase   
Domain families : Pfam (Sanger)Ceramidase (PF05875)   
Domain families : Pfam (NCBI)pfam05875   
Conserved Domain (NCBI)ACER2
DMDM Disease mutations340485
Blocks (Seattle)ACER2
SuperfamilyQ5QJU3
Human Protein AtlasENSG00000177076
Peptide AtlasQ5QJU3
HPRD16512
IPIIPI00479560   IPI00783055   IPI00420054   
Protein Interaction databases
DIP (DOE-UCLA)Q5QJU3
IntAct (EBI)Q5QJU3
FunCoupENSG00000177076
BioGRIDACER2
STRING (EMBL)ACER2
ZODIACACER2
Ontologies - Pathways
QuickGOQ5QJU3
Ontology : AmiGOGolgi membrane  negative regulation of cell-matrix adhesion  Golgi apparatus  ceramide metabolic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of cell proliferation  positive regulation of cell death  ceramidase activity  ceramidase activity  sphingolipid biosynthetic process  integral component of Golgi membrane  response to retinoic acid  negative regulation of cell adhesion mediated by integrin  cellular response to drug  sphingosine biosynthetic process  dihydroceramidase activity  negative regulation of protein glycosylation in Golgi  
Ontology : EGO-EBIGolgi membrane  negative regulation of cell-matrix adhesion  Golgi apparatus  ceramide metabolic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of cell proliferation  positive regulation of cell death  ceramidase activity  ceramidase activity  sphingolipid biosynthetic process  integral component of Golgi membrane  response to retinoic acid  negative regulation of cell adhesion mediated by integrin  cellular response to drug  sphingosine biosynthetic process  dihydroceramidase activity  negative regulation of protein glycosylation in Golgi  
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkACER2
Atlas of Cancer Signalling NetworkACER2
Wikipedia pathwaysACER2
Orthology - Evolution
OrthoDB340485
GeneTree (enSembl)ENSG00000177076
Phylogenetic Trees/Animal Genes : TreeFamACER2
HOVERGENQ5QJU3
HOGENOMQ5QJU3
Homologs : HomoloGeneACER2
Homology/Alignments : Family Browser (UCSC)ACER2
Gene fusions - Rearrangements
Fusion : MitelmanACER2/C8orf37 [9p22.1/8q22.1]  
Fusion: TCGAACER2 9p22.1 C8orf37 8q22.1 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACER2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACER2
dbVarACER2
ClinVarACER2
1000_GenomesACER2 
Exome Variant ServerACER2
ExAC (Exome Aggregation Consortium)ACER2 (select the gene name)
Genetic variants : HAPMAP340485
Genomic Variants (DGV)ACER2 [DGVbeta]
DECIPHERACER2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACER2 
Mutations
ICGC Data PortalACER2 
TCGA Data PortalACER2 
Broad Tumor PortalACER2
OASIS PortalACER2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACER2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACER2
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 ACER2
DgiDB (Drug Gene Interaction Database)ACER2
DoCM (Curated mutations)ACER2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACER2 (select a term)
intoGenACER2
Cancer3DACER2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613492   
Orphanet
MedgenACER2
Genetic Testing Registry ACER2
NextProtQ5QJU3 [Medical]
TSGene340485
GENETestsACER2
Huge Navigator ACER2 [HugePedia]
snp3D : Map Gene to Disease340485
BioCentury BCIQACER2
ClinGenACER2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD340485
Chemical/Pharm GKB GenePA164714853
Clinical trialACER2
Miscellaneous
canSAR (ICR)ACER2 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACER2
EVEXACER2
GoPubMedACER2
iHOPACER2
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 12:04:44 CEST 2017

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