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Aliases for ASAH2 Gene

Aliases for ASAH2 Gene

  • N-Acylsphingosine Amidohydrolase (Non-Lysosomal Ceramidase) 2 2 3
  • N-Acylsphingosine Amidohydrolase 2 3 4
  • Acylsphingosine Deacylase 2 3 4
  • Non-Lysosomal Ceramidase 3 4
  • EC 3.5.1.23 4 63
  • N-CDase 3 4
  • BCDase 3 4
  • LCDase 3 4
  • NCDase 3 4
  • HNAC1 3 4
  • Neutral/Alkaline Ceramidase 3
  • Mitochondrial Ceramidase 3
  • Neutral Ceramidase 3
  • HCD 4

External Ids for ASAH2 Gene

Previous GeneCards Identifiers for ASAH2 Gene

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

Summaries for ASAH2 Gene

Entrez Gene Summary for ASAH2 Gene

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

GeneCards Summary for ASAH2 Gene

ASAH2 (N-Acylsphingosine Amidohydrolase (Non-Lysosomal Ceramidase) 2) is a Protein Coding gene. Diseases associated with ASAH2 include obstructive jaundice and sphingolipidosis. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include ceramidase activity. An important paralog of this gene is ASAH2B.

UniProtKB/Swiss-Prot for ASAH2 Gene

  • Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 6.5-8.5. Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, and generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary sphingolipids and regulating the levels of bioactive sphingolipid metabolites in the intestinal tract.

Tocris Summary for ASAH2 Gene

  • Ceramidases (EC 3.5.1.23) are a group of enzymes which catalyze the hydrolysis of ceramides to produce sphingosine, which subsequently undergoes phosphorylation to generate sphingosine-1-phosphate (S1P). Ceramide and its downstream products, sphingosine and S1P, are bioactive lipids that mediate various cellular processes including cell growth arrest, differentiation and apoptosis

Gene Wiki entry for ASAH2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASAH2 Gene

Genomics for ASAH2 Gene

Genomic Location for ASAH2 Gene

Start:
50,182,778 bp from pter
End:
50,248,610 bp from pter
Size:
65,833 bases
Orientation:
Minus strand

Genomic View for ASAH2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASAH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASAH2 Gene

Proteins for ASAH2 Gene

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

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

    Protein attributes for ASAH2 Gene

    Size:
    780 amino acids
    Molecular mass:
    85516 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAL06061.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI15870.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ASAH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASAH2 Gene

Proteomics data for ASAH2 Gene at MOPED

Post-translational modifications for ASAH2 Gene

  • N-glycosylated. Required for enzyme activity (By similarity).
  • O-glycosylated. Required to retain it as a type II membrane protein at the cell surface.
  • Phosphorylated. May prevent ubiquitination and subsequent degradation (By similarity).
  • Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by nitric oxid (By similarity).
  • Glycosylation at Thr62, Ser67, Thr68, Thr70, Ser73, Thr74, Thr76, Ser78, Ser79, Thr80, Thr82, Thr84, Asn98, Asn151, Asn217, Asn468, Asn564, Asn730, and Thr779
  • Modification sites at PhosphoSitePlus

Other Protein References for ASAH2 Gene

Antibody Products

  • R&D Systems Antibodies for ASAH2 (ASAH2/N-acylsphingosine Amidohydrolase-2)

Protein Products

Domains for ASAH2 Gene

Protein Domains for ASAH2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ASAH2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NR71

UniProtKB/Swiss-Prot:

ASAH2_HUMAN :
  • Q9NR71
Family:
  • Belongs to the neutral ceramidase family.
genes like me logo Genes that share domains with ASAH2: view

No data available for Gene Families for ASAH2 Gene

Function for ASAH2 Gene

Molecular function for ASAH2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=71.4 uM for octanoyl-sphingosine {ECO:0000269 PubMed:10781606, ECO:0000269 PubMed:16229686}; KM=66 uM for palmitoyl-sphingosine {ECO:0000269 PubMed:10781606, ECO:0000269 PubMed:16229686}; KM=60.1 uM for D-erythro-C12-NBD-ceramide {ECO:0000269 PubMed:10781606, ECO:0000269 PubMed:16229686}; Vmax=160 umol/min/mg enzyme with octanoyl-sphingosine as substrate {ECO:0000269 PubMed:10781606, ECO:0000269 PubMed:16229686}; Vmax=16 umol/min/mg enzyme with palmitoyl-sphingosine as substrate {ECO:0000269 PubMed:10781606, ECO:0000269 PubMed:16229686}; Vmax=0.68 nmol/min/mg enzyme with D-erythro-C12-NBD-ceramide as substrate {ECO:0000269 PubMed:10781606, ECO:0000269 PubMed:16229686}; pH dependence: Optimum pH is 7.5-9.5. {ECO:0000269 PubMed:10781606, ECO:0000269 PubMed:16229686};
UniProtKB/Swiss-Prot CatalyticActivity: N-acylsphingosine + H(2)O = a carboxylate + sphingosine.
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by dithiothreitol (DTT), 2-mercaptoethanol, Zn(2+), Cu(2+) and Fe(2+). Enhanced by Na(+) and Ca(2+), and at lower level Mg(2+) and Mn(2+)
UniProtKB/Swiss-Prot Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 6.5-8.5. Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, and generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary sphingolipids and regulating the levels of bioactive sphingolipid metabolites in the intestinal tract.

Enzyme Numbers (IUBMB) for ASAH2 Gene

Gene Ontology (GO) - Molecular Function for ASAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017040 ceramidase activity IEA --
genes like me logo Genes that share ontologies with ASAH2: view

Phenotypes for ASAH2 Gene

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

Animal Models for ASAH2 Gene

MGI Knock Outs for ASAH2:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASAH2

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ASAH2 Gene

Localization for ASAH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASAH2 Gene

Cell membrane; Single-pass type II membrane protein. Note=The neutral ceramidase soluble form is a secreted protein. According to PubMed:10781606, it is mitochondrial. However, they used a shorter form in its N-terminus, which may explain this localization which probably does not exist in vivo.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASAH2 Gene COMPARTMENTS Subcellular localization image for ASAH2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 4
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ASAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 10781606
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASAH2: view

Pathways for ASAH2 Gene

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

Pathways by source for ASAH2 Gene

Interacting Proteins for ASAH2 Gene

Gene Ontology (GO) - Biological Process for ASAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0006672 ceramide metabolic process TAS 10781606
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction TAS 10781606
genes like me logo Genes that share ontologies with ASAH2: view

Compounds for ASAH2 Gene

(2) Tocris Compounds for ASAH2 Gene

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

(121) HMDB Compounds for ASAH2 Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • Sulfatide (d18:1/18:1(9Z))
Not Available

(9) Novoseek inferred chemical compound relationships for ASAH2 Gene

Compound -log(P) Hits PubMed IDs
ceramide 92.8 49
sphingosine 89.2 22
n-oleoylethanolamine 85.9 4
glucosylceramide 77.1 2
ceramides 71.6 2
genes like me logo Genes that share compounds with ASAH2: view

Transcripts for ASAH2 Gene

Unigene Clusters for ASAH2 Gene

N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASAH2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ASAH2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ASAH2 Gene

GeneLoc Exon Structure for
ASAH2
ECgene alternative splicing isoforms for
ASAH2

Expression for ASAH2 Gene

mRNA expression in normal human tissues for ASAH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Small Intestine - Terminal Ileum (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ASAH2 Gene

SOURCE GeneReport for Unigene cluster for ASAH2 Gene Hs.512645

mRNA Expression by UniProt/SwissProt for ASAH2 Gene

Q9NR71-ASAH2_HUMAN
Tissue specificity: Primarily expressed in the intestine (PubMed:17334805). Ubiquitously expressed with higher levels in kidney, skeletal muscle and heart (PubMed:10781606). According to PubMed:17334805, ubiquitous expression attributed to ASAH2 may be actually that of the paralog ASAH2B.
genes like me logo Genes that share expressions with ASAH2: view

In Situ Assay Products

Orthologs for ASAH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ASAH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 99 (a)
ManyToMany
-- 36
  • 98 (a)
ManyToMany
ASAH2 35
  • 99.19 (n)
  • 98.97 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 83 (a)
OneToMany
ASAH2 35
  • 84.77 (n)
  • 82.63 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 88 (a)
OneToMany
ASAH2B 35
  • 85.71 (n)
  • 85.84 (a)
mouse
(Mus musculus)
Mammalia Asah2 35
  • 83 (n)
  • 81.32 (a)
Asah2 16
Asah2 36
  • 81 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Asah2 35
  • 82.81 (n)
  • 81.18 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 64 (a)
OneToMany
ASAH2 35
  • 66.8 (n)
  • 66.45 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia asah2 35
  • 64.49 (n)
  • 62.85 (a)
zebrafish
(Danio rerio)
Actinopterygii asah2 35
  • 62.54 (n)
  • 61.76 (a)
asah2 36
  • 59 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003730 35
  • 51.47 (n)
  • 47.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta CDase 35
  • 52.23 (n)
  • 46.58 (a)
CDase 36
  • 43 (a)
OneToMany
CG1471 37
  • 44 (a)
soybean
(Glycine max)
eudicotyledons Gma.13216 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G38010 35
  • 52.46 (n)
  • 44.73 (a)
rice
(Oryza sativa)
Liliopsida Os.652 35
Os01g0624000 35
  • 52.48 (n)
  • 46.06 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
ManyToMany
-- 36
  • 44 (a)
ManyToMany
-- 36
  • 42 (a)
ManyToMany
Species with no ortholog for ASAH2:
  • 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)

Paralogs for ASAH2 Gene

Paralogs for ASAH2 Gene

Selected SIMAP similar genes for ASAH2 Gene using alignment to 4 proteins:

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

Variants for ASAH2 Gene

Sequence variations from dbSNP and Humsavar for ASAH2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs745396 -- 50,211,626(-) AGCAC(A/C)GAAGA intron-variant
rs962278 -- 50,227,644(+) AAAAA(A/T)AATAA intron-variant
rs986316 -- 50,250,091(+) TAATT(C/T)GTAAA upstream-variant-2KB
rs992271 -- 50,211,371(+) CAAAA(A/G)TGAAA intron-variant
rs1011615 -- 50,234,210(-) CTTTG(C/T)TGATT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv518071 CNV Gain 19592680
nsv831868 CNV Loss 17160897
dgv138e199 CNV Deletion 23128226
nsv521271 CNV Gain 19592680

Relevant External Links for ASAH2 Gene

HapMap Linkage Disequilibrium report
ASAH2

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

Disorders for ASAH2 Gene

(1) University of Copenhagen DISEASES for ASAH2 Gene

(13) Novoseek inferred disease relationships for ASAH2 Gene

Disease -log(P) Hits PubMed IDs
lipogranulomatosis 95.8 3
sphingolipidoses 74.2 2
subcutaneous nodule 69.6 1
niemann-pick diseases 66.5 1
niemann-picks disease type c 53.2 1

Relevant External Links for ASAH2

Genetic Association Database (GAD)
ASAH2
Human Genome Epidemiology (HuGE) Navigator
ASAH2
genes like me logo Genes that share disorders with ASAH2: view

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

Publications for ASAH2 Gene

  1. Molecular cloning and characterization of a human mitochondrial ceramidase. (PMID: 10781606) El Bawab S. … Hannun Y.A. (J. Biol. Chem. 2000) 2 3 4 23
  2. Subcellular localization of human neutral ceramidase expressed in HEK293 cells. (PMID: 15845354) Hwang Y.H. … Ito M. (Biochem. Biophys. Res. Commun. 2005) 3 4 23
  3. A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease. (PMID: 17334805) Avramopoulos D. … Bassett S.S. (Neurogenetics 2007) 3 4 23
  4. Neutral ceramidase gene: role in regulating ceramide-induced apoptosis. (PMID: 14557071) Choi M.S. … Mukherjee A.B. (Gene 2003) 3 4
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4

Products for ASAH2 Gene

Sources for ASAH2 Gene

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