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The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010] See more...
Aliases for ACER2 Gene
Aliases for ACER2 Gene
External Ids for ACER2 Gene
- HGNC: 23675
- Entrez Gene: 340485
- Ensembl: ENSG00000177076
- OMIM: 613492
- UniProtKB: Q5QJU3
Previous HGNC Symbols for ACER2 Gene
- ASAH3L
Previous GeneCards Identifiers for ACER2 Gene
- GC09P019400
Summaries for ACER2 Gene
-
The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]
GeneCards Summary for ACER2 Gene
ACER2 (Alkaline Ceramidase 2) is a Protein Coding gene. Diseases associated with ACER2 include Farber Lipogranulomatosis and Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy. Among its related pathways are Sphingolipid signaling pathway and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides and dihydroceramidase activity. An important paralog of this gene is ACER1.
UniProtKB/Swiss-Prot Summary for ACER2 Gene
-
Golgi ceramidase that catalyzes the hydrolysis of ceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:16940153, PubMed:18945876, PubMed:20207939, PubMed:20089856). 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:20207939). Has a better catalytic efficiency towards unsaturated long-chain ceramides, including C18:1-, C20:1- and C24:1-ceramides (PubMed:16940153, PubMed:18945876, PubMed:20207939, PubMed:20089856). Saturated long-chain ceramides and unsaturated very long-chain ceramides are also good substrates, whereas saturated very long-chain ceramides and short-chain ceramides are poor substrates (PubMed:20089856). Also hydrolyzes dihydroceramides to produce dihydrosphingosine (PubMed:20207939, PubMed:20628055). It is the ceramidase that controls the levels of circulating sphingosine-1-phosphate and dihydrosphingosine-1-phosphate in plasma through their production by hematopoietic cells (By similarity). Regulates cell proliferation, autophagy and apoptosis by the production of sphingosine and sphingosine-1-phosphate (PubMed:16940153, PubMed:26943039, PubMed:28294157, PubMed:29229990). As part of a p53/TP53-dependent pathway, promotes for instance autophagy and apoptosis in response to DNA damage (PubMed:26943039, PubMed:28294157, PubMed:29229990). Through the production of sphingosine, may also regulate the function of the Golgi complex and regulate the glycosylation of proteins (PubMed:18945876).
Additional gene information for ACER2 Gene
- HGNC(23675)
- Entrez Gene(340485)
- Ensembl(ENSG00000177076)
- OMIM(613492)
- UniProtKB(Q5QJU3)
- Open Targets Platform(ENSG00000177076)
- Search for ACER2 at DataMed
- Search for ACER2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACER2 Gene
Genomics for ACER2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ACER2 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 ACER2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACER2
- Top Transcription factor binding sites by QIAGEN in the ACER2 gene promoter:
-
- AP-1
- Elk-1
- FOXJ2
- FOXJ2 (long isoform)
- GATA-1
- GATA-2
- GATA-3
- LCR-F1
- USF-1
- USF1
Genomic Locations for ACER2 Gene
Genomic Locations for ACER2 Gene
- chr9:19,408,927-19,455,173
- (GRCh38/hg38)
- Size:
- 46,247 bases
- Orientation:
- Plus strand
- chr9:19,408,925-19,452,500
- (GRCh37/hg19)
- Size:
- 43,576 bases
- Orientation:
- Plus strand
Genomic View for ACER2 Gene
Genes around ACER2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9p22.1 by HGNC
- 9p22.1 by Entrez Gene
- 9p22.1 by Ensembl
ACER2 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 ACER2 Gene
Proteins for ACER2 Gene
-
Protein details for ACER2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5QJU3-ACER2_HUMAN
- Recommended name:
- Alkaline ceramidase 2
- Protein Accession:
- Q5QJU3
- A2A3R8
- Q569G5
- Q5VZR7
- Q71RD2
Protein attributes for ACER2 Gene
- Size:
- 275 amino acids
- Molecular mass:
- 31309 Da
- Cofactor:
- Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
- Quaternary structure:
- No Data Available
Post-translational modifications for ACER2 Gene
-
Glycosylation at Asn23
- NX_Q5QJU3 (NX_Q5QJU3-1)
Other Protein References for ACER2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ASAH3L Antibody
- Invitrogen Antibodies for ACER2 (AFLGC-ACER2)
-
Biorbyt antibodies for ACER2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ACER2
- Origene Custom Protein Services for ACER2
- Novus Biologicals proteins for ACER2
-
Abcam proteins for ACER2
No data available for DME Specific Peptides for ACER2 Gene
Domains & Families for ACER2 Gene
Gene Families for ACER2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted membrane proteins
Suggested Antigen Peptide Sequences for ACER2 Gene
- GenScript: Design optimal peptide antigens:
-
- N-acylsphingosine amidohydrolase 3-like (ACER2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q5QJU3- Family:
-
- Belongs to the alkaline ceramidase family.
Function for ACER2 Gene
Molecular function for ACER2 Gene
- UniProtKB/Swiss-Prot Function:
- Golgi ceramidase that catalyzes the hydrolysis of ceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:16940153, PubMed:18945876, PubMed:20207939, PubMed:20089856). 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:20207939). Has a better catalytic efficiency towards unsaturated long-chain ceramides, including C18:1-, C20:1- and C24:1-ceramides (PubMed:16940153, PubMed:18945876, PubMed:20207939, PubMed:20089856). Saturated long-chain ceramides and unsaturated very long-chain ceramides are also good substrates, whereas saturated very long-chain ceramides and short-chain ceramides are poor substrates (PubMed:20089856). Also hydrolyzes dihydroceramides to produce dihydrosphingosine (PubMed:20207939, PubMed:20628055). It is the ceramidase that controls the levels of circulating sphingosine-1-phosphate and dihydrosphingosine-1-phosphate in plasma through their production by hematopoietic cells (By similarity). Regulates cell proliferation, autophagy and apoptosis by the production of sphingosine and sphingosine-1-phosphate (PubMed:16940153, PubMed:26943039, PubMed:28294157, PubMed:29229990). As part of a p53/TP53-dependent pathway, promotes for instance autophagy and apoptosis in response to DNA damage (PubMed:26943039, PubMed:28294157, PubMed:29229990). Through the production of sphingosine, may also regulate the function of the Golgi complex and regulate the glycosylation of proteins (PubMed:18945876).
- 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:0000269|PubMed:16940153, ECO:0000269|PubMed:20089856};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-eicosanoyl-sphing-4-enine = eicosanoate + sphing-4-enine; Xref=Rhea:RHEA:41275, ChEBI:CHEBI:15377, ChEBI:CHEBI:32360, ChEBI:CHEBI:57756, ChEBI:CHEBI:72962; Evidence={ECO:0000269|PubMed:20089856};.
- 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:20089856};.
- 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:16940153, ECO:0000269|PubMed:20089856};.
- 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:0000269|PubMed:20089856};.
- 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:20089856};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-(tetracosanoyl)-sphing-4-enine = sphing-4-enine + tetracosanoate; Xref=Rhea:RHEA:41283, ChEBI:CHEBI:15377, ChEBI:CHEBI:31014, ChEBI:CHEBI:57756, ChEBI:CHEBI:72965; Evidence={ECO:0000269|PubMed:16940153, ECO:0000269|PubMed:20089856};.
- 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:20089856};.
- 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:20089856};.
- 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:16940153, ECO:0000269|PubMed:20089856, ECO:0000269|PubMed:20207939};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=an N-acylsphinganine + H2O = a fatty acid + sphinganine; Xref=Rhea:RHEA:33551, ChEBI:CHEBI:15377, ChEBI:CHEBI:28868, ChEBI:CHEBI:31488, ChEBI:CHEBI:57817; Evidence={ECO:0000269|PubMed:20207939, ECO:0000269|PubMed:20628055};.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated upon serum deprivation (PubMed:16940153). Up-regulated by N-(4-hydroxyphenyl)retinamode/4-HPR (PubMed:20628055). Up-regulated upon DNA damage, in a p53/TP53-dependent manner, resulting in increased levels of sphingosine and sphingosine-1-phosphate (at protein level) (PubMed:26943039, PubMed:28294157, PubMed:29229990).
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=224 uM for D-erythro-C(6:0)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269|PubMed:20089856}; KM=134 uM for D-erythro-C(12:0)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269|PubMed:20089856}; KM=115 uM for D-erythro-C(14:0)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269|PubMed:20089856}; KM=99 uM for D-erythro-C(16:0)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269|PubMed:20089856}; KM=95 uM for D-erythro-C(18:0)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269|PubMed:20089856}; KM=77 uM for D-erythro-C(18:1)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269|PubMed:20089856}; KM=91 uM for D-erythro-C(20:0)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269|PubMed:20089856}; KM=72 uM for D-erythro-C(20:1)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269|PubMed:20089856}; KM=143 uM for D-erythro-C(24:0)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269|PubMed:20089856}; KM=81 uM for D-erythro-C(24:1)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269|PubMed:20089856}; Vmax=5 pmol/min/mg enzyme with D-erythro-C(6:0)-ceramide as substrate {ECO:0000269|PubMed:20089856}; Vmax=11 pmol/min/mg enzyme with D-erythro-C(12:0)-ceramide as substrate {ECO:0000269|PubMed:20089856}; Vmax=11 pmol/min/mg enzyme with D-erythro-C(14:0)-ceramide as substrate {ECO:0000269|PubMed:20089856}; Vmax=24 pmol/min/mg enzyme with D-erythro-C(16:0)-ceramide as substrate {ECO:0000269|PubMed:20089856}; Vmax=26 pmol/min/mg enzyme with D-erythro-C(18:0)-ceramide as substrate {ECO:0000269|PubMed:20089856}; Vmax=35 pmol/min/mg enzyme with D-erythro-C(18:1)-ceramide as substrate {ECO:0000269|PubMed:20089856}; Vmax=29 pmol/min/mg enzyme with D-erythro-C(20:0)-ceramide as substrate {ECO:0000269|PubMed:20089856}; Vmax=38 pmol/min/mg enzyme with D-erythro-C(20:1)-ceramide as substrate {ECO:0000269|PubMed:20089856}; Vmax=7 pmol/min/mg enzyme with D-erythro-C(24:0)-ceramide as substrate {ECO:0000269|PubMed:20089856}; Vmax=27 pmol/min/mg enzyme with D-erythro-C(24:1)-ceramide as substrate {ECO:0000269|PubMed:20089856}; pH dependence: Optimum pH is 7.5-9.0. {ECO:0000269|PubMed:20089856};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Specifically activated by lumenal, but not cytosolic Ca(2+). Inhibited by Zn(2+) or Cu(2+). Mg(2+) or Mn(2+) have no effect on ceramidase activity (PubMed:20089856). Inhibited by De-MAPP (PubMed:20207939).
Enzyme Numbers (IUBMB) for ACER2 Gene
Phenotypes From GWAS Catalog for ACER2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0016811 | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | IEA | -- |
| GO:0017040 | N-acylsphingosine amidohydrolase activity | TAS | -- |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0071633 | dihydroceramidase activity | IDA,IMP | 20207939 |
Phenotypes for ACER2 Gene
- MGI mutant phenotypes for ACER2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ACER2:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- shRNA abundance <= 50%
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased NF-kappaB reporter expression
- Decreased viability after Maraba virus infection
- No cells
Animal Model Products
-
Taconic Biosciences Mouse Models for ACER2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACER2 - Select products 50% OFF >
- * ACER2 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 ACER2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACER2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACER2
miRNA for ACER2 Gene
- miRTarBase miRNAs that target ACER2
-
- hsa-let-7a-5p (MIRT324727)
- hsa-let-7b-5p (MIRT324728)
- hsa-let-7c-5p (MIRT324729)
- hsa-let-7d-5p (MIRT324730)
- hsa-let-7e-5p (MIRT324731)
- hsa-let-7f-5p (MIRT324732)
- hsa-miR-98-5p (MIRT324733)
- hsa-miR-196a-5p (MIRT324734)
- hsa-let-7g-5p (MIRT324735)
- hsa-let-7i-5p (MIRT324736)
- hsa-miR-196b-5p (MIRT324737)
- hsa-miR-541-5p (MIRT324738)
- hsa-miR-4257 (MIRT324739)
- hsa-miR-4458 (MIRT324741)
- hsa-miR-4500 (MIRT324742)
- hsa-miR-122-5p (MIRT324745)
- hsa-miR-329-5p (MIRT324747)
- hsa-miR-504-3p (MIRT324748)
- hsa-miR-4280 (MIRT324749)
- hsa-miR-4464 (MIRT324750)
- hsa-miR-4748 (MIRT324753)
- hsa-miR-498 (MIRT503205)
- hsa-miR-505-3p (MIRT503206)
- hsa-miR-548v (MIRT503207)
- hsa-miR-4700-3p (MIRT503208)
- hsa-miR-513b-3p (MIRT503209)
- hsa-miR-7150 (MIRT503210)
- hsa-miR-4512 (MIRT503211)
- hsa-miR-106b-5p (MIRT503212)
- hsa-miR-20a-5p (MIRT503213)
- hsa-miR-20b-5p (MIRT503214)
- hsa-miR-106a-5p (MIRT503215)
- hsa-miR-17-5p (MIRT503216)
- hsa-miR-519d-3p (MIRT503217)
- hsa-miR-526b-3p (MIRT503218)
- hsa-miR-93-5p (MIRT503219)
- hsa-miR-182-5p (MIRT503220)
- hsa-miR-96-5p (MIRT503221)
- hsa-miR-1271-5p (MIRT503222)
- hsa-miR-27b-3p (MIRT503223)
- hsa-miR-27a-3p (MIRT503224)
- hsa-miR-140-3p (MIRT503225)
- hsa-miR-1244 (MIRT503226)
- hsa-miR-3613-3p (MIRT639521)
- hsa-miR-27a-5p (MIRT639522)
- hsa-miR-4668-5p (MIRT639523)
- hsa-miR-199a-3p (MIRT763621)
- hsa-miR-199b-3p (MIRT763632)
- hsa-miR-215-3p (MIRT763836)
- hsa-miR-222-5p (MIRT763946)
- hsa-miR-3120-5p (MIRT764783)
- hsa-miR-3129-5p (MIRT764866)
- hsa-miR-5007-5p (MIRT772946)
- hsa-miR-6753-3p (MIRT778365)
- hsa-miR-6773-3p (MIRT778704)
- hsa-miR-6777-3p (MIRT778780)
- hsa-miR-6888-3p (MIRT781077)
- hsa-miR-7107-3p (MIRT781410)
- hsa-miR-936 (MIRT782766)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACER2
- Browse OriGene Inhibitory RNA Products For ACER2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACER2
Clone Products
- Applied Biological Materials (abm): Clones for ACER2 - Select products 50% OFF >
- * ACER2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG202750
- MG216452
- MR202750
- MR202750L3
- MR202750L4
- MR216452
- MR216452L3
- MR216452L4
- MR228580
- MR228638
- RC217746
- RC217746L1
- RC217746L2
- RC217746L3
- RC217746L4
- RG217746
- RR211317
- RR211317L3
- RR211317L4
- MR202750L3V
- MR202750L4V
- MR216452L3V
- MR216452L4V
- RC217746L1V
- RC217746L2V
- RC217746L3V
- RC217746L4V
- RR211317L3V
- RR211317L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACER2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACER2
Cell Line Products
-
Horizon Cell Lines for ACER2
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACER2 Gene
Localization for ACER2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ACER2 Gene
- Golgi apparatus membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| plasma membrane | 4 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IEA,IDA | 16940153 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030173 | integral component of Golgi membrane | IDA | 20089856 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACER2 Gene
Pathways & Interactions for ACER2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Sphingolipid metabolism | ||
| 3 | Sphingolipid signaling pathway | ||
| 4 | sphingosine and sphingosine-1-phosphate metabolism | ||
Pathways by source for ACER2 Gene
1 BioSystems pathway for ACER2 Gene
4 Reactome pathways for ACER2 Gene
3 KEGG pathways for ACER2 Gene
UniProtKB/Swiss-Prot Q5QJU3-ACER2_HUMAN
- Pathway: Lipid metabolism; sphingolipid metabolism.
Interacting Proteins for ACER2 Gene
Selected Interacting proteins:
Q5QJU3-ACER2_HUMAN
ENSP00000342609
for ACER2 Gene via
UniProtKB
STRING
GPS-Prot Interaction Network for ACER2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001953 | negative regulation of cell-matrix adhesion | IDA | 18945876 |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006665 | sphingolipid metabolic process | IEA | -- |
| GO:0006672 | ceramide metabolic process | IEA | -- |
| GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | IMP | 20628055 |
No data available for SIGNOR curated interactions for ACER2 Gene
Drugs & Compounds for ACER2 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 | |||
| arachidonic acid | Experimental | Pharma | Activator, Agonist, Inhibitor, Activation, Potentiation | 40 | ||
| Myristic acid | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 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 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:1(9Z)) |
|
|
Transcripts for ACER2 Gene
mRNA/cDNA for ACER2 Gene
- 1 REFSEQ mRNAs :
- 5 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000340967 2773 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACER2 - Select products 50% OFF >
- * ACER2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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OriGene CRISPR knockouts for ACER2
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ACER2
miRNA Products
Inhibitory RNA Products
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Clone Products
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- * ACER2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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-
- MG202750
- MG216452
- MR202750
- MR202750L3
- MR202750L4
- MR216452
- MR216452L3
- MR216452L4
- MR228580
- MR228638
- RC217746
- RC217746L1
- RC217746L2
- RC217746L3
- RC217746L4
- RG217746
- RR211317
- RR211317L3
- RR211317L4
- MR202750L3V
- MR202750L4V
- MR216452L3V
- MR216452L4V
- RC217746L1V
- RC217746L2V
- RC217746L3V
- RC217746L4V
- RR211317L3V
- RR211317L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACER2
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| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||
| SP2: | - |
Relevant External Links for ACER2 Gene
- GeneLoc Exon Structure for
- ACER2
Expression for ACER2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for ACER2 Gene
This gene is overexpressed in Bladder (x12.1).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACER2
SOURCE GeneReport for Unigene cluster for ACER2 Gene:
Hs.41379mRNA Expression by UniProt/SwissProt for ACER2 Gene:
Q5QJU3-ACER2_HUMAN
Tissue specificity:
Highly expressed in placenta.
Evidence on tissue expression from TISSUES for ACER2 Gene
- Liver(2.3)
- Kidney(2)
Primer Products
-
OriGene qPCR primer pairs for ACER2
Gene Expression Assay Products
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACER2 Gene
Orthologs for ACER2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ACER2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ACER2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ACER2 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ACER2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Acer2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Acer2 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ACER2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ACER2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ACER2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | acer2 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.10989 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ACER2 31 |
|
OneToOne | |
| LOC100331179 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | bwa 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008729 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_W02F12.2 30 |
|
||
| W02F12.2 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for ACER2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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 (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ACER2 Gene
- ENSEMBL:
- Gene Tree for ACER2 (if available)
- TreeFam:
- Gene Tree for ACER2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ACER2: view image
Paralogs for ACER2 Gene
Variants for ACER2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACER2 Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10964136 | - | p.Ala134Val |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv7470n100 | CNV | gain | 25217958 |
| esv1361979 | CNV | deletion | 17803354 |
| esv2738260 | CNV | deletion | 23290073 |
| esv3544635 | CNV | deletion | 23714750 |
| esv3619907 | CNV | gain | 21293372 |
| esv3619911 | CNV | gain | 21293372 |
| esv3619913 | CNV | gain | 21293372 |
| esv3619914 | CNV | loss | 21293372 |
| nsv1025392 | CNV | gain | 25217958 |
| nsv416048 | CNV | deletion | 16902084 |
| nsv466286 | CNV | gain | 19166990 |
| nsv524474 | CNV | gain | 19592680 |
| nsv613730 | CNV | gain | 21841781 |
| nsv613731 | CNV | loss | 21841781 |
| nsv613732 | CNV | gain | 21841781 |
| nsv613733 | CNV | gain | 21841781 |
| nsv831524 | CNV | gain+loss | 17160897 |
Residual Variation Intolerance Score:
49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.59;
56.28% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ACER2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ACER2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACER2 Gene
Disorders for ACER2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| farber lipogranulomatosis |
|
|
| spinal muscular atrophy with progressive myoclonic epilepsy |
|
|
Search ACER2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ACER2
- 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 ACER2 Gene
Publications for ACER2 Gene
- Alkaline ceramidase 2 regulates beta1 integrin maturation and cell adhesion. (PMID: 18945876) Sun W … Mao C (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 2 3 4 23
- Substrate specificity, membrane topology, and activity regulation of human alkaline ceramidase 2 (ACER2). (PMID: 20089856) Sun W … Mao C (The Journal of biological chemistry 2010) 3 4 23
- Tumor suppressor p53 links ceramide metabolism to DNA damage response through alkaline ceramidase 2. (PMID: 29229990) Xu R … Mao C (Cell death and differentiation 2018) 3 4
- Alkaline ceramidase 2 is a novel direct target of p53 and induces autophagy and apoptosis through ROS generation. (PMID: 28294157) Wang Y … Bu Y (Scientific reports 2017) 3 4
- Alkaline ceramidase 2 and its bioactive product sphingosine are novel regulators of the DNA damage response. (PMID: 26943039) Xu R … Mao C (Oncotarget 2016) 3 4
ExternalLinks
Products for ACER2 Gene
- Custom Antibody Services
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- Browse OriGene Inhibitory RNA Products For ACER2
- OriGene qPCR primer pairs for ACER2
- OriGene CRISPR knockouts for ACER2
- MG202750
- MG216452
- MR202750
- MR202750L3
- MR202750L4
- MR216452
- MR216452L3
- MR216452L4
- MR228580
- MR228638
- RC217746
- RC217746L1
- RC217746L2
- RC217746L3
- RC217746L4
- RG217746
- RR211317
- RR211317L3
- RR211317L4
- MR202750L3V
- MR202750L4V
- MR216452L3V
- MR216452L4V
- RC217746L1V
- RC217746L2V
- RC217746L3V
- RC217746L4V
- RR211317L3V
- RR211317L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ACER2
- Sino Biological Human cDNA Clone for ACER2
- Browse Sino Biological Recombinant Proteins
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- Taconic Biosciences Mouse Models for ACER2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for ACER2 (AFLGC-ACER2)
- VectorBuilder Custom and pre-made DNA vectors for ACER2 (ie. gene expression, shRNA knockdown, CRISPR)
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- antibodies-online: Show 4 available ACER2 Antibodies ranked by validation data
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- antibodies-online: Show 3 available ACER2 Proteins ranked by validation data
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- Horizon Cell Lines for ACER2
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- Biorbyt antibodies for ACER2
Sources for ACER2 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
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (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
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
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- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB