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Aliases for ASAH2 Gene

Aliases for ASAH2 Gene

  • N-Acylsphingosine Amidohydrolase 2 2 3 4 5
  • Non-Lysosomal Ceramidase 2 3 4
  • N-Acylsphingosine Amidohydrolase (Non-Lysosomal Ceramidase) 2 2 3
  • Acylsphingosine Deacylase 2 3 4
  • Neutral Ceramidase 2 3
  • EC 3.5.1.23 4 61
  • N-CDase 3 4
  • BCDase 3 4
  • LCDase 3 4
  • NCDase 3 4
  • HNAC1 3 4
  • Neutral/Alkaline Ceramidase 3
  • Mitochondrial 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 2) is a Protein Coding gene. Diseases associated with ASAH2 include Lipogranulomatosis and Sphingolipidosis. Among its related pathways are Sphingolipid metabolism and Sphingolipid signaling pathway. 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).

Gene Wiki entry for ASAH2 Gene

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

Genomics for ASAH2 Gene

Regulatory Elements for ASAH2 Gene

Enhancers for ASAH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G050739 1.1 ENCODE 29.9 -488.5 -488508 1.7 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ASAH2 ASAH2B LOC729047
GH10G050321 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -70.4 -70442 1.0 RFX1 RELA TFDP1 ZNF664 FOSL1 NFE2 IRF1 FOXJ2 ASAH2 SHQ1P1 SGMS1 SGMS1-AS1 ENSG00000279863 DYNC1I2P1
GH10G050416 1.3 ENCODE dbSUPER 10.3 -165.9 -165946 3.2 PKNOX1 ATF1 SIN3A ZNF48 YY1 GLIS2 ELK1 ZNF207 KLF7 FOS RNU7-107P ASAH2 BEND3P1 SGMS1 ENSG00000225303 GC10M050342
GH10G050882 1 ENCODE 12.2 -633.0 -633043 4.1 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 ZHX2 PPARG KAT8 MIER3 ASAH2 ASAH2B A1CF ENSG00000229711
GH10G050313 0.9 dbSUPER 11.1 -64.9 -64933 5.0 HDAC1 HDGF PKNOX1 FOXA2 TBL1XR1 NFRKB ZNF766 SMARCA5 CEBPB ZEB2 ASAH2 SGMS1 ENSG00000279863 DYNC1I2P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASAH2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASAH2 Gene

Chromosome:
10
Start:
50,182,778 bp from pter
End:
50,251,577 bp from pter
Size:
68,800 bases
Orientation:
Minus strand

Genomic View for ASAH2 Gene

Genes around ASAH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASAH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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};

    Three dimensional structures from OCA and Proteopedia for ASAH2 Gene

    Alternative splice isoforms for ASAH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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

  • 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, posLast=6767, posLast=6868, Thr70, posLast=7373, posLast=7474, posLast=7676, Ser78, posLast=7979, posLast=8080, Thr82, posLast=8484, Asn98, Asn151, Asn217, Asn468, Asn564, posLast=730730, and posLast=779779
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Domains & Families for ASAH2 Gene

Protein Domains for ASAH2 Gene

Suggested Antigen Peptide Sequences for ASAH2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NR71

UniProtKB/Swiss-Prot:

ASAH2_HUMAN :
  • Belongs to the neutral ceramidase family.
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:0016787 hydrolase activity IEA --
GO:0017040 ceramidase activity IEA --
genes like me logo Genes that share ontologies with ASAH2: view
genes like me logo Genes that share phenotypes with ASAH2: view

Animal Models for ASAH2 Gene

MGI Knock Outs for ASAH2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ASAH2

Inhibitory RNA Products

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

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASAH2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
endoplasmic reticulum 2
extracellular 1
lysosome 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 IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ASAH2: view

Pathways & Interactions for ASAH2 Gene

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

Pathways by source for ASAH2 Gene

Gene Ontology (GO) - Biological Process for ASAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006672 ceramide metabolic process TAS 10781606
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction TAS 10781606
genes like me logo Genes that share ontologies with ASAH2: view

No data available for SIGNOR curated interactions for ASAH2 Gene

Drugs & Compounds for ASAH2 Gene

(11) Drugs for ASAH2 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Sphingosine Experimental Pharma 0
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22
Stearic acid Experimental Pharma 0

(89) Additional Compounds for ASAH2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glucosylceramide
  • 1-O-b-D-Glucopyranosyl-Ceramide
  • 1-O-beta-delta-Glucopyranosyl-Ceramide
  • Ganglioside GL1a
  • Gaucher cerebroside
  • Glc-beta1->1'Cer
85305-87-9
N-Oleoylethanolamine
  • N-(2-Hydroxyethyl)oleamide
  • N-Oleoyl ethanolamine, Oleoyl monoethanolamide, Oleoylethanolamide
  • N-Oleoyl-2-aminoethanol
  • NOE
  • OEA
111-58-0
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
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
genes like me logo Genes that share compounds with ASAH2: view

Drug Products

Transcripts for ASAH2 Gene

mRNA/cDNA for ASAH2 Gene

(8) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASAH2 Gene

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

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.5).

Protein differential expression in normal tissues from HIPED for ASAH2 Gene

This gene is overexpressed in Pancreatic juice (65.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASAH2 Gene



Protein tissue co-expression partners for ASAH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASAH2 Gene:

ASAH2

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 expression patterns with ASAH2: view

Primer 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.

Orthologs for ASAH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASAH2 34
  • 99.19 (n)
-- 35
  • 99 (a)
ManyToMany
-- 35
  • 98 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 88 (a)
OneToMany
ASAH2B 34
  • 85.71 (n)
cow
(Bos Taurus)
Mammalia ASAH2 34
  • 84.77 (n)
-- 35
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Asah2 34 16 35
  • 83 (n)
rat
(Rattus norvegicus)
Mammalia Asah2 34
  • 82.81 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves ASAH2 34
  • 66.8 (n)
-- 35
  • 64 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia asah2 34
  • 64.49 (n)
zebrafish
(Danio rerio)
Actinopterygii asah2 34 35
  • 62.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta CDase 34 35
  • 52.23 (n)
CG1471 36
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003730 34
  • 51.47 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G38010 34
  • 52.46 (n)
soybean
(Glycine max)
eudicotyledons Gma.13216 34
rice
(Oryza sativa)
Liliopsida Os01g0624000 34
  • 52.48 (n)
Os.652 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
ManyToMany
-- 35
  • 44 (a)
ManyToMany
-- 35
  • 42 (a)
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)

Paralogs for ASAH2 Gene

Paralogs for ASAH2 Gene

(2) 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
rs1000060056 -- 50,207,327(+) TATTC(A/G)AAAGA intron-variant
rs1000068786 -- 50,232,470(+) GTCTG(C/T)ATCAT intron-variant
rs1000122904 -- 50,238,963(+) GAAGA(C/T)AACCA intron-variant
rs1000182138 -- 50,238,614(+) GAACT(A/G)AAGTC intron-variant
rs1000297572 -- 50,220,061(+) TTAAG(A/G)GACTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) 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

Variation tolerance for ASAH2 Gene

Gene Damage Index Score: 2.14; 38.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASAH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASAH2

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

Disorders for ASAH2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ASAH2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lipogranulomatosis
  • erdheim-chester disease
sphingolipidosis
  • sphingolipidoses
niemann-pick disease, type c1
  • niemann-pick disease, type d
corneal dystrophy, posterior amorphous
  • posterior amorphous corneal dystrophy
niemann–pick disease
  • niemann-pick
- elite association - COSMIC cancer census association via MalaCards
Search ASAH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASAH2

Genetic Association Database (GAD)
ASAH2
Human Genome Epidemiology (HuGE) Navigator
ASAH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASAH2
genes like me logo Genes that share disorders with ASAH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. 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 22 64
  3. Subcellular localization of human neutral ceramidase expressed in HEK293 cells. (PMID: 15845354) Hwang Y.H. … Ito M. (Biochem. Biophys. Res. Commun. 2005) 3 4 22 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Purification and characterization of human intestinal neutral ceramidase. (PMID: 17475390) Ohlsson L. … Nilsson A. (Biochimie 2007) 3 22 64

Products for ASAH2 Gene

Sources for ASAH2 Gene

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