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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
External Ids for ASAH2 Gene
- HGNC: 18860
- Entrez Gene: 56624
- Ensembl: ENSG00000188611
- OMIM: 611202
- UniProtKB: Q9NR71
Previous GeneCards Identifiers for ASAH2 Gene
- GC10M050790
- GC10M051837
- GC10M051291
- GC10M051617
- GC10M051944
- GC10M045946
Summaries 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).
-
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).
Additional gene information for ASAH2 Gene
- HGNC(18860)
- Entrez Gene(56624)
- Ensembl(ENSG00000188611)
- OMIM(611202)
- UniProtKB(Q9NR71)
- Open Targets Platform(ENSG00000188611)
- Search for ASAH2 at DataMed
- Search for ASAH2 at HumanCyc
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
- 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:
-
- 10q11.23 by HGNC
- 10q11.23 by Entrez Gene
- 10q11.23 by Ensembl
ASAH2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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
- NX_Q9NR71 (NX_Q9NR71-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ASAH2 Gene
Antibody Products
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-
Abcam antibodies for ASAH2
- Invitrogen Antibodies for ASAH2 (AFLGC-Asah2)
-
Biorbyt antibodies for ASAH2
-
Custom Antibody ServicesProSci Antibodies for ASAH2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ASAH2
- Sino Biological Antibodies for ASAH2
Protein Products
-
OriGene Purified Proteins for ASAH2
- Search Origene for MassSpec and Protein Over-expression Lysates for ASAH2
- Origene Custom Protein Services for ASAH2
- Novus Biologicals proteins for ASAH2
- Sino Biological Cell Lysates for ASAH2
- Sino Biological Recombinant Proteins for ASAH2
- antibodies-online: Show 8 available ASAH2 Proteins ranked by validation data
- Compare Top ASAH2 Proteins
-
Quality Products:
-
Signalway Proteins for ASAH2
Assay Products
- RayBiotech Custom Human ASAH2/Neutral Ceramidase ELISA
- antibodies-online: Show 7 available ASAH2 Elisa Kits ranked by validation data
- Compare Top ASAH2 Elisa Kits
-
Quality Products:
Domains & Families for ASAH2 Gene
Gene Families for ASAH2 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for ASAH2 Gene
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the neutral ceramidase family.
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
| 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 | -- |
Phenotypes for ASAH2 Gene
- MGI mutant phenotypes for ASAH2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ASAH2:
Animal Models for ASAH2 Gene
- MGI Knock Outs for ASAH2:
-
- Asah2 Asah2<tm1Rlp>
Animal Model Products
-
Taconic Biosciences Mouse Models for ASAH2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ASAH2 - Select products 50% OFF >
- * ASAH2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ASAH2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ASAH2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASAH2
miRNA for ASAH2 Gene
- miRTarBase miRNAs that target ASAH2
-
- hsa-miR-4485-5p (MIRT454359)
- hsa-miR-6079 (MIRT454360)
- hsa-miR-6833-5p (MIRT454361)
- hsa-miR-3190-3p (MIRT454362)
- hsa-miR-671-5p (MIRT454363)
- hsa-miR-6828-5p (MIRT454364)
- hsa-miR-4657 (MIRT454365)
- hsa-miR-4491 (MIRT454366)
- hsa-miR-8066 (MIRT454367)
- mmu-miR-466p-5p (MIRT587956)
- mmu-miR-1187 (MIRT587957)
- mmu-miR-466a-5p (MIRT587958)
- mmu-miR-466e-5p (MIRT587959)
- mmu-miR-466l-5p (MIRT587960)
- mmu-miR-466k (MIRT587961)
- mmu-miR-466d-5p (MIRT587962)
- mmu-miR-466i-5p (MIRT587963)
- hsa-miR-6873-3p (MIRT607207)
- hsa-miR-377-3p (MIRT607208)
- hsa-miR-6817-3p (MIRT607209)
- hsa-miR-7110-3p (MIRT607210)
- hsa-miR-342-3p (MIRT607211)
- hsa-miR-6887-3p (MIRT607212)
- hsa-miR-8485 (MIRT607213)
- hsa-miR-362-3p (MIRT607214)
- hsa-miR-329-3p (MIRT607215)
- hsa-miR-6769b-3p (MIRT607364)
- hsa-miR-4723-3p (MIRT607365)
- hsa-miR-3183 (MIRT607366)
- hsa-miR-6800-3p (MIRT607367)
- hsa-miR-374b-3p (MIRT624650)
- hsa-miR-4524b-5p (MIRT624651)
- hsa-miR-4524a-5p (MIRT624652)
- hsa-miR-4519 (MIRT624653)
- hsa-miR-4274 (MIRT624654)
- hsa-miR-4298 (MIRT628419)
- hsa-miR-1302 (MIRT628420)
- hsa-miR-6871-5p (MIRT628421)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ASAH2
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Clone Products
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-
- MG224900
- MR224900
- MR224900L3
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- RC215027
- RC215027L1
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- RC215027L3
- RC215027L4
- RC226789
- RC226789L1
- RC226789L2
- RC226789L3
- RC226789L4
- RC229372
- RC229372L3
- RC229372L4
- RG215027
- RG226789
- RG229372
- RR203862
- RR203862L3
- RR203862L4
- MR224900L3V
- MR224900L4V
- RC215027L1V
- RC215027L2V
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- RC226789L1V
- RC226789L2V
- RC226789L3V
- RC226789L4V
- RC229372L3V
- RC229372L4V
- RR203862L3V
- RR203862L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ASAH2
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Cell Line Products
-
Horizon Cell Lines for ASAH2
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.
| 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 |
- Focal adhesion sites (2)
| 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 |
Pathways & Interactions for ASAH2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sphingolipid metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | Sphingolipid signaling pathway | ||
| 4 | S-1P Stimulated Signaling |
S-1P Stimulated Signaling
-
|
|
| 5 | sphingosine and sphingosine-1-phosphate metabolism | ||
Pathways by source for ASAH2 Gene
2 BioSystems pathways for ASAH2 Gene
4 Reactome pathways for ASAH2 Gene
3 KEGG pathways for ASAH2 Gene
1 Qiagen pathway for ASAH2 Gene
- S-1P Stimulated Signaling
UniProtKB/Swiss-Prot Q9NR71-ASAH2_HUMAN
- Pathway: Lipid metabolism; sphingolipid metabolism.
Interacting Proteins for ASAH2 Gene
GPS-Prot Interaction Network for ASAH2
| 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 | -- |
No data available for SIGNOR curated interactions for ASAH2 Gene
Drugs & Compounds for ASAH2 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| glucosylceramide |
|
|||||
| N-Oleoylethanolamine |
|
111-58-0 | ||||
| 3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
| 3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
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 |
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 :
-
- ENST00000395526 7171 nts (view in UCSC)
- ENST00000489640 539 nts (view in UCSC)
- ENST00000329428 2184 nts (view in UCSC)
- ENST00000474434 555 nts (view in UCSC)
- ENST00000447815 2311 nts (view in UCSC)
CRISPR Products
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- Sino Biological Human cDNA Clone for ASAH2
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Relevant External Links for ASAH2 Gene
- GeneLoc Exon Structure for
- ASAH2
Expression for ASAH2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Sertoli cells Seminiferous Tubules
- Intestine (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for ASAH2 Gene
This gene is overexpressed in Small Intestine - Terminal Ileum (x4.5).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASAH2
SOURCE GeneReport for Unigene cluster for ASAH2 Gene:
Hs.512645mRNA 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).
Primer Products
-
OriGene qPCR primer pairs for ASAH2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ASAH2 30 |
|
||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| ASAH2B 30 |
|
||||
| Cow (Bos Taurus) |
Mammalia | ASAH2 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Asah2 30 17 31 |
|
OneToMany | |
| Rat (Rattus norvegicus) |
Mammalia | Asah2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | ASAH2 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | asah2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | asah2 30 31 |
|
OneToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CDase 30 31 |
|
OneToMany | |
| CG1471 32 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003730 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G38010 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.13216 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os01g0624000 30 |
|
||
| Os.652 30 |
|
||||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
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
Variants 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sphingolipidosis |
|
|
| lipogranulomatosis |
|
|
| farber lipogranulomatosis |
|
|
| niemann-pick disease, type a |
|
|
| spinal muscular atrophy with progressive myoclonic epilepsy |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for ASAH2 Gene
Publications for ASAH2 Gene
- 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
- Purification and characterization of human intestinal neutral ceramidase. (PMID: 17475390) Ohlsson L … Nilsson A (Biochimie 2007) 3 4 23
- 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
- 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
- Functions of neutral ceramidase in the Golgi apparatus. (PMID: 30154232) Sakamoto W … Hannun YA (Journal of lipid research 2018) 3 4
ExternalLinks
Products for ASAH2 Gene
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- OriGene qPCR primer pairs for ASAH2
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Sources for ASAH2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
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- (38) dbSNP
- (39) GenAtlas
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- (42) BGMUT
- (43) HuGE
- (44) Atlas
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- (49) Leiden
- (50) miRBase
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- (53) PubMed
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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