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 Lipogranulomatosis and Sphingolipidosis. Among its related pathways are Sphingolipid metabolism and sphingosine and sphingosine-1-phosphate 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 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).
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASAH2 Gene
Genomics for ASAH2 Gene
GeneHancer (GH) Regulatory Elements for ASAH2 Gene
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 UCSC Golden Path with GeneCards custom track
- 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
- chr10:50,182,778-50,251,577
- (GRCh38/hg38)
- Size:
- 68,800 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=Translation N-terminally extended.; 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 posLast=564564, posLast=7979, isoforms=280, isoforms=267, isoforms=2151, posLast=6868, isoforms=2468, posLast=7474, posLast=7070, posLast=7878, posLast=8282, posLast=7676, isoforms=2730, isoforms=273, isoforms=262, isoforms=2217, posLast=8484, isoforms=2779, and isoforms=298
- Modification sites at PhosphoSitePlus
Other Protein References for ASAH2 Gene
Antibody Products
- Atlas Antibodies Anti-ASAH2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ASAH2
- Novus Biologicals Antibodies for ASAH2
-
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
- Atlas Antibodies PrEST Antigen ASAH2
-
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 Recombinant Proteins for ASAH2
- Sino Biological Cell Lysates for ASAH2
- antibodies-online: Search results for 7 available ASAH2 Proteins ranked by validation data
- Compare Top ASAH2 Proteins
-
Quality Products:
Assay Products
- RayBiotech Custom Human ASAH2/Neutral Ceramidase ELISA
- Aviva Systems Biology ASAH2 ELISA Kit (Human) (OKCD01831)
- antibodies-online: Search results for 3 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
- Predicted secreted 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:11278489, ECO:0000269 PubMed:19345744};.
- 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}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38892; Evidence=. ;.
- 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=. ;.
- 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}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41296; 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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41280; Evidence=. ;.
- 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=. ;.
- 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=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41300; Evidence=. ;.
- 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=. ;.
- 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=. ;.
- 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=. ;.
- 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).
- 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 Induction:
- Down-regulated by gemcitabine/GMZ (at protein level) (PubMed:19345744). Down-regulated upon serum starvation (PubMed:19345744).
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 | 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
- Cyagen custom Knockout/knockin (KOKI) mouse models for ASAH2
-
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ASAH2 - Now 50% OFF >
- * ASAH2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ASAH2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for ASAH2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ASAH2
- genomics-online: gRNA clones - Search results for 108 available ASAH2 gene related products
- Overview of 108 available ASAH2 gene related products
-
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)
- 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 sirna, shrna, and RNAi products in human, mouse, rat for ASAH2
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- Overview of 108 available ASAH2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for ASAH2 - Now 50% OFF >
- * ASAH2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ASAH2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG224900
- MR224900
- MR224900L1
- MR224900L1V
- MR224900L2
- MR224900L2V
- MR224900L3
- MR224900L3V
- MR224900L4
- MR224900L4V
- RC215027
- RC215027L1
- RC215027L1V
- RC215027L2
- RC215027L2V
- RC215027L3
- RC215027L3V
- RC215027L4
- RC215027L4V
- RC226789
- RC226789L1
- RC226789L1V
- RC226789L2
- RC226789L2V
- RC226789L3
- RC226789L3V
- RC226789L4
- RC226789L4V
- RC229372
- RC229372L1
- RC229372L1V
- RC229372L2
- RC229372L2V
- RC229372L3
- RC229372L3V
- RC229372L4
- RC229372L4V
- RG215027
- RG226789
- RG229372
- RR203862
- RR203862L1
- RR203862L1V
- RR203862L2
- RR203862L2V
- RR203862L3
- RR203862L3V
- RR203862L4
- 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, 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 | 1 |
| lysosome | 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:0005739 | mitochondrion | IEA,IDA | 10781606 |
| GO:0005794 | Golgi apparatus | IEA,IDA | 30154232 |
| GO:0005886 | plasma membrane | IDA,IEA | 30154232 |
Pathways & Interactions for ASAH2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sphingolipid metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | Sphingolipid signaling pathway | ||
| 4 | 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
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 | Full agonist, Agonist | 25 | ||
| Stearic acid | Approved, Experimental | Pharma | 0 | |||
| Water | Approved | Pharma | 0 | |||
| Sphingosine | Experimental | Pharma | 0 | |||
| arachidonic acid | Experimental | Pharma | Activator, Agonist, Inhibitor, Activation, Potentiation | 37 |
| 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) Additional mRNA sequences :
- (15) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000329428 2184 bps (ENST00000329428.10)
- ENST00000395526 6880 bps (ENST00000395526.8)
- ENST00000443575 1942 bps (ENST00000443575.5)
- ENST00000447815 2311 bps (ENST00000447815.5)
- ENST00000474434 555 bps (ENST00000474434.2)
Unigene Clusters for ASAH2 Gene
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ASAH2 - Now 50% OFF >
- * ASAH2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ASAH2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for ASAH2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ASAH2
- genomics-online: gRNA clones - Search results for 108 available ASAH2 gene related products
- Overview of 108 available ASAH2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASAH2
miRNA Products
Inhibitory RNA Products
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Clone Products
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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
NURSA nuclear receptor signaling pathways regulating expression of ASAH2 Gene:
ASAH2SOURCE 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 34 |
|
||
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| dog (Canis familiaris) |
Mammalia | -- 35 |
|
OneToMany | |
| ASAH2B 34 |
|
||||
| cow (Bos Taurus) |
Mammalia | ASAH2 34 |
|
||
| -- 35 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Asah2 17 35 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Asah2 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | ASAH2 34 |
|
||
| -- 35 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | asah2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | asah2 35 34 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | CDase 35 34 |
|
OneToMany | |
| CG1471 36 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003730 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT2G38010 34 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.13216 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0624000 34 |
|
||
| Os.652 34 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany |
- Species where no ortholog for ASAH2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000060056 | -- | 50,207,327(-) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000068786 | -- | 50,232,470(-) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000122904 | -- | 50,238,963(-) | T/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000182138 | -- | 50,238,614(-) | A/G | genic_upstream_transcript_variant, intron_variant | |
| rs1000297572 | -- | 50,220,061(-) | A/G | genic_upstream_transcript_variant, intron_variant |
| 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 |
|---|---|---|
| lipogranulomatosis |
|
|
| sphingolipidosis |
|
|
| corneal dystrophy, posterior amorphous |
|
|
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
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 58
- 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 58
- Purification and characterization of human intestinal neutral ceramidase. (PMID: 17475390) Ohlsson L … Nilsson A (Biochimie 2007) 3 4 23 58
- 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 58
- Functions of neutral ceramidase in the Golgi apparatus. (PMID: 30154232) Sakamoto W … Hannun YA (Journal of lipid research 2018) 3 4 58
ExternalLinks
Products for ASAH2 Gene
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Sources for ASAH2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
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- (40) Pseudogene
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- (48) Atlas
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- (55) miRBase
- (56) DME
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- (67) Qiagen
- (68) OCA
- (69) Proteopedia
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- (71) neXtProt
- (72) Reactome
- (73) GeneGo (Thomson Reuters)
- (74) fRNAdb
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- (77) GenomeRNAi
- (78) LifeMap
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