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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]
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.
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
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2 | Sphingolipid metabolism | ||
3 | Sphingolipid signaling pathway | ||
4 | sphingosine and sphingosine-1-phosphate metabolism |
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 |
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) |
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852100-88-0 |
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3-O-Sulfogalactosylceramide (d18:1/14:0) |
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3-O-Sulfogalactosylceramide (d18:1/16:0) |
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862509-48-6 |
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3-O-Sulfogalactosylceramide (d18:1/18:0) |
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244215-65-4 |
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3-O-Sulfogalactosylceramide (d18:1/18:1(9Z)) |
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ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | - |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
farber lipogranulomatosis |
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spinal muscular atrophy with progressive myoclonic epilepsy |
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