Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 113... See more...

Aliases for ASAH2 Gene

Aliases for ASAH2 Gene

  • N-Acylsphingosine Amidohydrolase 2 2 3 4 5
  • Non-Lysosomal Ceramidase 2 3 4
  • Neutral Ceramidase 2 3 4
  • N-Acylsphingosine Amidohydrolase (Non-Lysosomal Ceramidase) 2 2 3
  • Acylsphingosine Deacylase 2 3 4
  • EC 3.5.1.23 4 51
  • N-CDase 3 4
  • BCDase 3 4
  • LCDase 3 4
  • NCDase 3 4
  • HNAC1 3 4
  • Neutral/Alkaline Ceramidase 3
  • Mitochondrial Ceramidase 3
  • EC 3.5.1.- 4
  • ASAH2 5
  • HCD 4

External Ids for ASAH2 Gene

Previous GeneCards Identifiers for ASAH2 Gene

  • GC10M050790
  • GC10M051837
  • GC10M051291
  • GC10M051617
  • GC10M051944
  • GC10M045946

Summaries for ASAH2 Gene

Entrez Gene Summary for ASAH2 Gene

  • Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ASAH2 Gene

ASAH2 (N-Acylsphingosine Amidohydrolase 2) is a Protein Coding gene. Diseases associated with ASAH2 include Sphingolipidosis and Lipogranulomatosis. Among its related pathways are Sphingolipid signaling pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include N-acylsphingosine amidohydrolase activity. An important paralog of this gene is ASAH2B.

UniProtKB/Swiss-Prot Summary for ASAH2 Gene

  • Plasma membrane ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at neutral pH (PubMed:10781606, PubMed:16229686, PubMed:26190575). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:15946935, PubMed:19345744, PubMed:24798654). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:11278489, PubMed:17475390). Together with sphingomyelinase, participates in the production of sphingosine and sphingosine-1-phosphate from the degradation of sphingomyelin, a sphingolipid enriched in the plasma membrane of cells (PubMed:16061940). Also participates in the hydrolysis of ceramides from the extracellular milieu allowing the production of sphingosine-1-phosphate inside and outside cells (By similarity). This is the case for instance with the digestion of dietary sphingolipids in the intestinal tract (By similarity).

Tocris Summary for ASAH2 Gene

  • Ceramidases (EC 3.5.1.23) are a group of enzymes which catalyze the hydrolysis of ceramides to produce sphingosine, which subsequently undergoes phosphorylation to generate sphingosine-1-phosphate (S1P).

Gene Wiki entry for ASAH2 Gene

Additional gene information for ASAH2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASAH2 Gene

Genomics for ASAH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASAH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J050247 Promoter/Enhancer 1.1 EPDnew ENCODE 611.6 +30.2 30178 4.1 GATAD2A REST RCOR2 RBFOX2 PKNOX1 RXRB SP1 PBX2 CEBPA SOX13 ASAH2 WASHC2A piR-33605-053 lnc-SGMS1-3
GH10J050279 Promoter/Enhancer 1 EPDnew Ensembl 600.7 +0.1 119 0.8 ZNF512 NRF1 HMBOX1 CTBP1 NFE2 FOXA2 ZNF316 MAFF YY1 MAFK ASAH2 WASHC2A DYNC1I2P1
GH10J050278 Enhancer 0.2 FANTOM5 600.7 +1.5 1502 0.3 ASAH2 SGMS1 DYNC1I2P1 WASHC2A
GH10J050739 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 30 -460.6 -460580 2.6 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 RFX1 IKZF1 NFKBIZ ZNF692 POLR2A ASAH2B ENSG00000287221 PRKG1 ASAH2 TIMM23B-AGAP6 RNA5SP317 SGMS1-AS1 WASHC2A AGAP6 hsa-miR-5095-040
GH10J050415 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 -137.7 -137725 3.7 TEAD4 PRDM10 KDM1A POLR2A BACH1 JUND LARP7 PRDM1 PHF21A RBFOX2 SGMS1 lnc-ASAH2B-7 RNU7-107P ASAH2 BEND3P1 piR-54764-058 KR020024 lnc-ASAH2-6 lnc-ASAH2-7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASAH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASAH2

Top Transcription factor binding sites by QIAGEN in the ASAH2 gene promoter:
  • Chx10
  • FOXD3
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-1
  • Ik-2
  • p53
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for ASAH2 Gene

Genomic Locations for ASAH2 Gene
chr10:50,182,778-50,279,720
(GRCh38/hg38)
Size:
96,943 bases
Orientation:
Minus strand
chr10:51,942,538-52,008,370
(GRCh37/hg19)
Size:
65,833 bases
Orientation:
Minus strand

Genomic View for ASAH2 Gene

Genes around ASAH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASAH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASAH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASAH2 Gene

Proteins for ASAH2 Gene

  • Protein details for ASAH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR71-ASAH2_HUMAN
    Recommended name:
    Neutral ceramidase
    Protein Accession:
    Q9NR71
    Secondary Accessions:
    • Q3KNU1
    • Q5SNT7
    • Q5SZP6
    • Q5SZP7
    • Q5T1D5
    • Q71ME6

    Protein attributes for ASAH2 Gene

    Size:
    780 amino acids
    Molecular mass:
    85516 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAL06061.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ASAH2 Gene

    Alternative splice isoforms for ASAH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASAH2 Gene

Selected DME Specific Peptides for ASAH2 Gene

Q9NR71:
  • TCKPALG
  • GPHTLSAYIQ
  • TTMSGRR
  • SERARYSS
  • WHIPDTA
  • NDASWETRF
  • TEGDPFWD
  • GPEPPFF
  • SSNLGDVSPNI
  • YTHYITTYEEYQ
  • EEYQAQRYEAASTI
  • IGVGRADCTG

Post-translational modifications for ASAH2 Gene

  • Proteolytic cleavage of the N-terminus removes the signal-anchor and produces a soluble form of the protein.
  • N-glycosylated. Required for enzyme activity.
  • O-glycosylated. Required to retain it as a type II membrane protein at the cell surface.
  • Phosphorylated. May prevent ubiquitination and subsequent degradation.
  • Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by nitric oxide.
  • Glycosylation at Thr62, Ser67, Thr68, Thr70, Ser73, Thr74, Thr76, Ser78, Ser79, Thr80, Thr82, Thr84, Asn98, Asn151, Asn217, Asn308, Asn468, Asn440, Asn564, Asn730, and Thr779
  • Modification sites at PhosphoSitePlus

Domains & Families for ASAH2 Gene

Gene Families for ASAH2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ASAH2 Gene

Suggested Antigen Peptide Sequences for ASAH2 Gene

GenScript: Design optimal peptide antigens:
  • Non-lysosomal ceramidase (ASAH2_HUMAN)
  • cDNA FLJ51366, highly similar to Neutral ceramidase (EC 3.5.1.23) (B4DX28_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NR71

UniProtKB/Swiss-Prot:

ASAH2_HUMAN :
  • Belongs to the neutral ceramidase family.
Family:
  • Belongs to the neutral ceramidase family.
genes like me logo Genes that share domains with ASAH2: view

Function for ASAH2 Gene

Molecular function for ASAH2 Gene

UniProtKB/Swiss-Prot Function:
Plasma membrane ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at neutral pH (PubMed:10781606, PubMed:16229686, PubMed:26190575). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:15946935, PubMed:19345744, PubMed:24798654). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:11278489, PubMed:17475390). Together with sphingomyelinase, participates in the production of sphingosine and sphingosine-1-phosphate from the degradation of sphingomyelin, a sphingolipid enriched in the plasma membrane of cells (PubMed:16061940). Also participates in the hydrolysis of ceramides from the extracellular milieu allowing the production of sphingosine-1-phosphate inside and outside cells (By similarity). This is the case for instance with the digestion of dietary sphingolipids in the intestinal tract (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine; Xref=Rhea:RHEA:20856, ChEBI:CHEBI:15377, ChEBI:CHEBI:28868, ChEBI:CHEBI:52639, ChEBI:CHEBI:57756; EC=3.5.1.23; Evidence={ECO:0000269|PubMed:10781606, ECO:0000269|PubMed:11278489, ECO:0000269|PubMed:15946935, ECO:0000269|PubMed:16061940, ECO:0000269|PubMed:19345744, ECO:0000269|PubMed:26190575};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-dodecanoylsphing-4-enine = dodecanoate + sphing-4-enine; Xref=Rhea:RHEA:41291, ChEBI:CHEBI:15377, ChEBI:CHEBI:18262, ChEBI:CHEBI:57756, ChEBI:CHEBI:72956; Evidence={ECO:0000269|PubMed:16229686, ECO:0000269|PubMed:30154232};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-hexadecanoylsphing-4-enine = hexadecanoate + sphing-4-enine; Xref=Rhea:RHEA:38891, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:57756, ChEBI:CHEBI:72959; Evidence={ECO:0000269|PubMed:10781606, ECO:0000269|PubMed:17475390};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-octanoylsphing-4-enine = octanoate + sphing-4-enine; Xref=Rhea:RHEA:45092, ChEBI:CHEBI:15377, ChEBI:CHEBI:25646, ChEBI:CHEBI:45815, ChEBI:CHEBI:57756; Evidence={ECO:0000269|PubMed:17475390};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(hexanoyl)sphing-4-enine = hexanoate + sphing-4-enine; Xref=Rhea:RHEA:41295, ChEBI:CHEBI:15377, ChEBI:CHEBI:17120, ChEBI:CHEBI:57756, ChEBI:CHEBI:63867; Evidence={ECO:0000269|PubMed:15946935, ECO:0000269|PubMed:30154232};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-octadecanoylsphing-4-enine = octadecanoate + sphing-4-enine; Xref=Rhea:RHEA:41279, ChEBI:CHEBI:15377, ChEBI:CHEBI:25629, ChEBI:CHEBI:57756, ChEBI:CHEBI:72961; Evidence={ECO:0000269|PubMed:15946935};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-tetradecanoylsphing-4-enine = sphing-4-enine + tetradecanoate; Xref=Rhea:RHEA:41287, ChEBI:CHEBI:15377, ChEBI:CHEBI:30807, ChEBI:CHEBI:57756, ChEBI:CHEBI:72957; Evidence={ECO:0000250|UniProtKB:Q91XT9};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(9Z-octadecenoyl)-sphing-4-enine = (9Z)-octadecenoate + sphing-4-enine; Xref=Rhea:RHEA:41299, ChEBI:CHEBI:15377, ChEBI:CHEBI:30823, ChEBI:CHEBI:57756, ChEBI:CHEBI:77996; Evidence={ECO:0000269|PubMed:15946935};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(15Z-tetracosenoyl)-sphing-4-enine = (15Z)-tetracosenoate + sphing-4-enine; Xref=Rhea:RHEA:41267, ChEBI:CHEBI:15377, ChEBI:CHEBI:32392, ChEBI:CHEBI:57756, ChEBI:CHEBI:74450; Evidence={ECO:0000250|UniProtKB:Q91XT9};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecanoate + sphinganine = H2O + N-hexadecanoylsphinganine; Xref=Rhea:RHEA:43440, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:57817, ChEBI:CHEBI:67042; Evidence={ECO:0000250|UniProtKB:Q9JHE3};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-(octadecanoyl)-sphinganine = octadecanoate + sphinganine; Xref=Rhea:RHEA:45008, ChEBI:CHEBI:15377, ChEBI:CHEBI:25629, ChEBI:CHEBI:57817, ChEBI:CHEBI:67033; Evidence={ECO:0000250|UniProtKB:Q9JHE3};.
UniProtKB/Swiss-Prot Induction:
Down-regulated by gemcitabine/GMZ (at protein level) (PubMed:19345744). Down-regulated upon serum starvation (PubMed:19345744).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=60.1 uM for D-erythro-C12-NBD-ceramide (at 37 degrees Celsius and pH 7.5) {ECO:0000269|PubMed:16229686}; KM=13 uM for N-octanoylsphing-4-enine (at 37 degrees Celsius and pH 7.0) {ECO:0000269|PubMed:17475390}; Vmax=0.68 nmol/min/mg enzyme for the hydrolysis of D-erythro-C12-NBD-ceramide as substrate (at 37 degrees Celsius and pH 7.5) {ECO:0000269|PubMed:16229686}; Vmax=0.8 umol/min/mg enzyme for the hydrolysis of N-octanoylsphing-4-enine (at 37 degrees Celsius and pH 7.0) {ECO:0000269|PubMed:17475390}; pH dependence: Optimum pH is 7.5-9.5 for N-hexadecanoylsphing-4-enine (PubMed:10781606). Optimum pH is 7.5 for D-erythro-C12-NBD-ceramide (PubMed:16229686). Optimum pH is 7.5 for N-octanoylsphing-4-enine (PubMed:17475390). {ECO:0000269|PubMed:10781606, ECO:0000269|PubMed:16229686, ECO:0000269|PubMed:17475390};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by dithiothreitol (DTT) and 2-mercaptoethanol (PubMed:16229686). Activity is mildly stimulated by Ca(2+) and Mg(2+), but is not inhibited by EDTA (PubMed:10781606, PubMed:16229686). Activity is inhibited by millimolar levels of Fe(2+), Zn(2+) and Cu(2+) (PubMed:16229686, PubMed:17475390). Inhibited by cholesterol (PubMed:17475390).

Enzyme Numbers (IUBMB) for ASAH2 Gene

Phenotypes From GWAS Catalog for ASAH2 Gene

Gene Ontology (GO) - Molecular Function for ASAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 26190575
GO:0008270 zinc ion binding IDA 26190575
GO:0016787 hydrolase activity IEA --
GO:0017040 N-acylsphingosine amidohydrolase activity IEA,IMP 10781606
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ASAH2: view
genes like me logo Genes that share phenotypes with ASAH2: view

Animal Models for ASAH2 Gene

MGI Knock Outs for ASAH2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ASAH2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASAH2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASAH2 Gene

Localization for ASAH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASAH2 Gene

[Neutral ceramidase]: Cell membrane. Single-pass type II membrane protein. Membrane raft. Single-pass type II membrane protein. Membrane, caveola. Single-pass type II membrane protein. Golgi apparatus membrane. Single-pass type II membrane protein. Mitochondrion. Secreted, extracellular exosome. Note=Enriched in exosomes upon stimulation by cytokine (PubMed:24798654). Enriched in caveolae and lipid rafts (By similarity). The localization to the mitochondrion could not be confirmed (PubMed:15845354). {ECO:0000250 UniProtKB:Q9JHE3, ECO:0000269 PubMed:15845354, ECO:0000269 PubMed:24798654}.
[Neutral ceramidase soluble form]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASAH2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 5
golgi apparatus 5
endoplasmic reticulum 2
lysosome 2
cytoskeleton 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region IBA 21873635
GO:0005615 extracellular space IEA --
GO:0005739 mitochondrion IEA,IDA 10781606
GO:0005794 Golgi apparatus IEA,IDA 30154232
genes like me logo Genes that share ontologies with ASAH2: view

Pathways & Interactions for ASAH2 Gene

genes like me logo Genes that share pathways with ASAH2: view

Pathways by source for ASAH2 Gene

1 Qiagen pathway for ASAH2 Gene
  • S-1P Stimulated Signaling

UniProtKB/Swiss-Prot Q9NR71-ASAH2_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for ASAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006670 sphingosine metabolic process IMP 10781606
GO:0006672 ceramide metabolic process IDA 26190575
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with ASAH2: view

No data available for SIGNOR curated interactions for ASAH2 Gene

Drugs & Compounds for ASAH2 Gene

(11) Drugs for ASAH2 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved Pharma Agonist, Full agonist 27
Stearic acid Approved, Experimental Pharma 0
Water Approved Pharma 0
Sphingosine Experimental Pharma 0
arachidonic acid Experimental Pharma Activator, Agonist, Inhibitor, Activation, Potentiation 40

(117) Additional Compounds for ASAH2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glucosylceramide
  • 1-O-b-D-Glucopyranosyl-ceramide
  • 1-O-beta-delta-Glucopyranosyl-ceramide
  • Ganglioside GL1a
  • Gaucher cerebroside
  • GLC-beta1->1'cer
N-Oleoylethanolamine
  • N-(2-Hydroxyethyl)-9-octadecenamide
  • N-(2-Hydroxyethyl)oleamide
  • N-(9Z-Octadecenoyl) ethanolamine
  • N-(9Z-Octadecenoyl)-ethanolamine
  • N-(cis-9-Octadecenoyl) ethanolamine
111-58-0
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6

(1) Tocris Compounds for ASAH2 Gene

Compound Action Cas Number
Ceranib 1 Ceramidase inhibitor; antiproliferative 328076-61-5

(1) ApexBio Compounds for ASAH2 Gene

Compound Action Cas Number
Ceranib 1 328076-61-5
genes like me logo Genes that share compounds with ASAH2: view

Transcripts for ASAH2 Gene

mRNA/cDNA for ASAH2 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASAH2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASAH2 Gene

No ASD Table

Relevant External Links for ASAH2 Gene

GeneLoc Exon Structure for
ASAH2

Expression for ASAH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASAH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASAH2 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x4.5).

Protein differential expression in normal tissues from HIPED for ASAH2 Gene

This gene is overexpressed in Pancreatic juice (65.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASAH2 Gene



Protein tissue co-expression partners for ASAH2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASAH2

SOURCE GeneReport for Unigene cluster for ASAH2 Gene:

Hs.512645

mRNA Expression by UniProt/SwissProt for ASAH2 Gene:

Q9NR71-ASAH2_HUMAN
Tissue specificity: Primarily expressed in intestine (PubMed:17334805). Ubiquitously expressed with higher levels in kidney, skeletal muscle and heart (PubMed:10781606). The ubiquitous expression observed for ASAH2 might be an experimental artifact due to the paralog ASAH2B (PubMed:17334805).
genes like me logo Genes that share expression patterns with ASAH2: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASAH2 Gene

Orthologs for ASAH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ASAH2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ASAH2 30
  • 99.19 (n)
-- 31
  • 99 (a)
ManyToMany
-- 31
  • 98 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 88 (a)
OneToMany
ASAH2B 30
  • 85.71 (n)
Cow
(Bos Taurus)
Mammalia ASAH2 30
  • 84.77 (n)
-- 31
  • 83 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Asah2 30 17 31
  • 83 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Asah2 30
  • 82.81 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 72 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ASAH2 30
  • 66.8 (n)
-- 31
  • 64 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 64 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia asah2 30
  • 64.49 (n)
Zebrafish
(Danio rerio)
Actinopterygii asah2 30 31
  • 62.54 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CDase 30 31
  • 52.23 (n)
OneToMany
CG1471 32
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003730 30
  • 51.47 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G38010 30
  • 52.46 (n)
Soybean
(Glycine max)
eudicotyledons Gma.13216 30
Rice
(Oryza sativa)
Liliopsida Os01g0624000 30
  • 52.48 (n)
Os.652 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
ManyToMany
-- 31
  • 44 (a)
ManyToMany
-- 31
  • 42 (a)
ManyToMany
Species where no ortholog for ASAH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ASAH2 Gene

ENSEMBL:
Gene Tree for ASAH2 (if available)
TreeFam:
Gene Tree for ASAH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASAH2: view image

Paralogs for ASAH2 Gene

Paralogs for ASAH2 Gene

(2) SIMAP similar genes for ASAH2 Gene using alignment to 4 proteins:

  • ASAH2_HUMAN
  • E9PBM9_HUMAN
  • V9GY52_HUMAN
  • V9GYJ5_HUMAN
genes like me logo Genes that share paralogs with ASAH2: view

Variants for ASAH2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASAH2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs7067625 - p.Thr51Ala
rs993869 - p.Ala346Ser

Additional dbSNP identifiers (rs#s) for ASAH2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ASAH2 Gene

Variant ID Type Subtype PubMed ID
dgv138e199 CNV deletion 23128226
dgv853n100 CNV gain 25217958
esv24278 CNV gain 19812545
esv3891809 CNV gain 25118596
nsv1037778 CNV gain 25217958
nsv1051087 CNV loss 25217958
nsv1053293 CNV gain 25217958
nsv1068697 CNV deletion 25765185
nsv1131000 CNV deletion 24896259
nsv1143508 CNV deletion 24896259
nsv521271 CNV gain 19592680
nsv831868 CNV loss 17160897
nsv947957 CNV duplication 23825009
nsv948004 CNV duplication 23825009
nsv950962 CNV deletion 24416366

Variation tolerance for ASAH2 Gene

Gene Damage Index Score: 2.14; 38.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASAH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASAH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASAH2 Gene

Disorders for ASAH2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ASAH2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sphingolipidosis
  • sphingolipidoses
lipogranulomatosis
  • erdheim-chester disease
farber lipogranulomatosis
  • frbrl
niemann-pick disease, type a
  • sphingomyelin lipidosis
spinal muscular atrophy with progressive myoclonic epilepsy
  • smapme
- elite association - COSMIC cancer census association via MalaCards
Search ASAH2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASAH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ASAH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASAH2 Gene

Publications for ASAH2 Gene

  1. Molecular cloning and characterization of a human mitochondrial ceramidase. (PMID: 10781606) El Bawab S … Hannun YA (The Journal of biological chemistry 2000) 2 3 4 23
  2. Purification and characterization of human intestinal neutral ceramidase. (PMID: 17475390) Ohlsson L … Nilsson A (Biochimie 2007) 3 4 23
  3. A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease. (PMID: 17334805) Avramopoulos D … Bassett SS (Neurogenetics 2007) 3 4 23
  4. Subcellular localization of human neutral ceramidase expressed in HEK293 cells. (PMID: 15845354) Hwang YH … Ito M (Biochemical and biophysical research communications 2005) 3 4 23
  5. Functions of neutral ceramidase in the Golgi apparatus. (PMID: 30154232) Sakamoto W … Hannun YA (Journal of lipid research 2018) 3 4

Products for ASAH2 Gene

  • Signalway Proteins for ASAH2

Sources for ASAH2 Gene