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Aliases for ASAH2B Gene

Aliases for ASAH2B Gene

  • N-Acylsphingosine Amidohydrolase 2B 2 3 5
  • N-Acylsphingosine Amidohydrolase (Non-Lysosomal Ceramidase) 2B 2 3
  • Putative Inactive N-Acylsphingosine Amidohydrolase 2B 3 4
  • Putative Inactive Non-Lysosomal Ceramidase B 3 4
  • ASAH2-Like Protein 3 4
  • ASAH2C 3 4
  • ASAH2L 3 4
  • N-Acylsphingosine Amidohydrolase (Non-Lysosomal Ceramidase) 2C 2
  • Putative Inactive Neutral Ceramidase B 3
  • EC 56
  • BA449O16.3 3
  • BA98I6.3 3

External Ids for ASAH2B Gene

Previous HGNC Symbols for ASAH2B Gene

  • ASAH2C

Previous GeneCards Identifiers for ASAH2B Gene

  • GC00U914492
  • GC10U900594
  • GC10P052169
  • GC10P052499
  • GC10P046471

Summaries for ASAH2B Gene

GeneCards Summary for ASAH2B Gene

ASAH2B (N-Acylsphingosine Amidohydrolase 2B) is a Protein Coding gene. Diseases associated with ASAH2B include Alzheimer Disease and Corneal Dystrophy, Posterior Amorphous. An important paralog of this gene is ASAH2.

Gene Wiki entry for ASAH2B Gene

Additional gene information for ASAH2B Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASAH2B Gene

Genomics for ASAH2B Gene

GeneHancer (GH) Regulatory Elements for ASAH2B Gene

Promoters and enhancers for ASAH2B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I050739 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 561.8 +0.8 752 1.7 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B ASAH2B GC10M050738 ASAH2 ENSG00000229711
GH10I050882 Promoter/Enhancer 1.4 EPDnew ENCODE 11.9 +145.3 145302 4.1 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 ATF7 RXRA ZHX2 REST A1CF ASAH2 ASAH2B ENSG00000229711
GH10I050659 Enhancer 1.1 Ensembl ENCODE 6.8 -79.3 -79317 1.2 HDGF PKNOX1 ATF1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF48 E2F8 PIR41880 PIR61306 BEND3P1 ASAH2B SGMS1-AS1
GH10I050575 Enhancer 1.4 Ensembl ENCODE dbSUPER 4.6 -161.0 -160982 6.2 HDGF PKNOX1 SMAD1 FOXA2 ARNT NEUROD1 POLR2B ZNF766 CBX5 E2F8 SGMS1 SGMS1-AS1 SHQ1P1 BEND3P1 ASAH2B GC10M050591 GC10P050546
GH10I050582 Enhancer 1 ENCODE dbSUPER 4.6 -156.7 -156741 0.8 HDAC1 FOXA2 PKNOX1 ARNT RAD21 YY1 CHAMP1 E2F8 EGR1 PHF21A SGMS1 ASAH2B GC10M050591 GC10P050546
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASAH2B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASAH2B gene promoter:

Genomic Locations for ASAH2B Gene

Genomic Locations for ASAH2B Gene
77,178 bases
Plus strand

Genomic View for ASAH2B Gene

Genes around ASAH2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASAH2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASAH2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASAH2B Gene

Proteins for ASAH2B Gene

  • Protein details for ASAH2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Putative inactive neutral ceramidase B
    Protein Accession:
    Secondary Accessions:
    • B7Z261

    Protein attributes for ASAH2B Gene

    165 amino acids
    Molecular mass:
    19025 Da
    Quaternary structure:
    No Data Available
    • ASAH2B/ASAH2L is a partial paralog of ASAH2, resulting from a partial duplication of ASAH2 on chromosome 10. It has a polymorphic start codon with a single nucleotide change of the original ASAH2 sequence plus other putative translation start site that might lead to several potential ORFs.

    Alternative splice isoforms for ASAH2B Gene


neXtProt entry for ASAH2B Gene

Selected DME Specific Peptides for ASAH2B Gene


Post-translational modifications for ASAH2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASAH2B Gene

Domains & Families for ASAH2B Gene

Gene Families for ASAH2B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ASAH2B Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the neutral ceramidase family.
  • Belongs to the neutral ceramidase family.
genes like me logo Genes that share domains with ASAH2B: view

Function for ASAH2B Gene

Enzyme Numbers (IUBMB) for ASAH2B Gene

Phenotypes From GWAS Catalog for ASAH2B Gene

Phenotypes for ASAH2B Gene

GenomeRNAi human phenotypes for ASAH2B:
genes like me logo Genes that share phenotypes with ASAH2B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASAH2B Gene

Localization for ASAH2B Gene

Subcellular locations from

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 ASAH2B gene
Compartment Confidence
mitochondrion 2
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ASAH2B Gene

Pathways & Interactions for ASAH2B Gene

SuperPathways for ASAH2B Gene

No Data Available

Interacting Proteins for ASAH2B Gene

Gene Ontology (GO) - Biological Process for ASAH2B Gene


No data available for Pathways by source and SIGNOR curated interactions for ASAH2B Gene

Drugs & Compounds for ASAH2B Gene

(8) Drugs for ASAH2B Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Stearic acid Approved, Experimental Pharma 0
Water Approved Pharma 0
Myristic acid Experimental Pharma 0
Sphingosine Experimental Pharma 0

(85) Additional Compounds for ASAH2B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
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
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate

(1) Tocris Compounds for ASAH2B Gene

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

(1) ApexBio Compounds for ASAH2B Gene

Compound Action Cas Number
Ceranib 1 328076-61-5
genes like me logo Genes that share compounds with ASAH2B: view

Drug Products

Transcripts for ASAH2B Gene

mRNA/cDNA for ASAH2B Gene

(5) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASAH2B Gene

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

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASAH2B Gene

No ASD Table

Relevant External Links for ASAH2B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ASAH2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASAH2B Gene

NURSA nuclear receptor signaling pathways regulating expression of ASAH2B Gene:


SOURCE GeneReport for Unigene cluster for ASAH2B Gene:


mRNA Expression by UniProt/SwissProt for ASAH2B Gene:

Tissue specificity: Ubiquitous. Expression is reduced with increasing age and in late-onset Alzheimer disease (LOAD) patients. This reduction is even more pronounced in patients with an affected mother.

Evidence on tissue expression from TISSUES for ASAH2B Gene

  • Intestine(2.2)
genes like me logo Genes that share expression patterns with ASAH2B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 ASAH2B Gene

Orthologs for ASAH2B Gene

This gene was present in the common ancestor of animals.

Orthologs for ASAH2B Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia -- 34
  • 47 (a)
(Mus musculus)
Mammalia Asah2 34
  • 16 (a)
(Bos Taurus)
Mammalia -- 34
  • 15 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 13 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 12 (a)
(Gallus gallus)
Aves -- 34
  • 11 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 13 (a)
(Danio rerio)
Actinopterygii asah2 34
  • 11 (a)
fruit fly
(Drosophila melanogaster)
Insecta CDase 34
  • 7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 7 (a)
-- 34
  • 6 (a)
-- 34
  • 6 (a)
Species where no ortholog for ASAH2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASAH2B Gene

Gene Tree for ASAH2B (if available)
Gene Tree for ASAH2B (if available)

Paralogs for ASAH2B Gene

Paralogs for ASAH2B Gene

(2) SIMAP similar genes for ASAH2B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ASAH2B: view

Variants for ASAH2B Gene

Sequence variations from dbSNP and Humsavar for ASAH2B Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000184813 -- 50,755,517(+) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1000319728 -- 50,756,137(+) A/G 3_prime_UTR_variant, non_coding_transcript_variant
rs1000522369 -- 50,749,656(+) T/G intron_variant
rs1000654967 -- 50,750,034(+) A/C intron_variant
rs1001489951 -- 50,738,205(+) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ASAH2B Gene

Variant ID Type Subtype PubMed ID
esv3623214 CNV loss 21293372
nsv1035197 CNV gain 25217958
nsv1069484 CNV deletion 25765185
nsv948007 CNV duplication 23825009
nsv948008 CNV duplication 23825009

Variation tolerance for ASAH2B Gene

Gene Damage Index Score: 4.12; 61.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASAH2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASAH2B Gene

Disorders for ASAH2B Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASAH2B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • ad
corneal dystrophy, posterior amorphous
  • pacd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ASAH2B

genes like me logo Genes that share disorders with ASAH2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASAH2B Gene

Publications for ASAH2B Gene

  1. A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease. (PMID: 17334805) Avramopoulos D … Bassett SS (Neurogenetics 2007) 2 3 4 58
  2. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R … Stanton LW (Nature biotechnology 2004) 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 4 58
  5. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 3 58

Products for ASAH2B Gene

Sources for ASAH2B Gene

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