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Aliases for ASAH2B Gene

Aliases for ASAH2B Gene

  • N-Acylsphingosine Amidohydrolase (Non-Lysosomal Ceramidase) 2B 2 3 5
  • 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
  • EC 3.5.1.23 63
  • 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 (Non-Lysosomal Ceramidase) 2B) is a Protein Coding gene. Diseases associated with ASAH2B include Alzheimer Disease. An important paralog of this gene is ASAH2.

Gene Wiki entry for ASAH2B Gene

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

Genomics for ASAH2B Gene

Regulatory Elements for ASAH2B Gene

Enhancers for ASAH2B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ASAH2B on UCSC Golden Path with GeneCards custom track

Promoters for ASAH2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ASAH2B on UCSC Golden Path with GeneCards custom track

Genomic Location for ASAH2B Gene

Chromosome:
10
Start:
50,739,318 bp from pter
End:
50,816,495 bp from pter
Size:
77,178 bases
Orientation:
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:
    P0C7U1-ASA2B_HUMAN
    Recommended name:
    Putative inactive neutral ceramidase B
    Protein Accession:
    P0C7U1
    Secondary Accessions:
    • B7Z261

    Protein attributes for ASAH2B Gene

    Size:
    165 amino acids
    Molecular mass:
    19025 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ASAH2B Gene

Proteomics data for ASAH2B Gene at MOPED

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

Protein Domains for ASAH2B Gene

Graphical View of Domain Structure for InterPro Entry

P0C7U1

UniProtKB/Swiss-Prot:

ASA2B_HUMAN :
  • Belongs to the neutral ceramidase family.
Family:
  • Belongs to the neutral ceramidase family.
genes like me logo Genes that share domains with ASAH2B: view

No data available for Gene Families for ASAH2B Gene

Function for ASAH2B Gene

Enzyme Numbers (IUBMB) for ASAH2B Gene

Animal Model Products

CRISPR Products

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

Localization for ASAH2B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASAH2B Gene COMPARTMENTS Subcellular localization image for ASAH2B gene
Compartment Confidence
mitochondrion 2
cytosol 1
nucleus 1
peroxisome 1

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

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000363118%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000363118 for ASAH2B Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for ASAH2B Gene

None

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

Drugs & Compounds for ASAH2B Gene

(6) Drugs for ASAH2B Gene - From: HMDB

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

(88) Additional Compounds for ASAH2B Gene - From: HMDB and Tocris

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
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
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
244215-65-4
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

(2) Tocris Compounds for ASAH2B Gene

Compound Action Cas Number
Ceranib 1 Ceramidase inhibitor; antiproliferative 328076-61-5
Oleylethanolamide GPR55 agonist; also PPARalpha agonist 111-58-0
genes like me logo Genes that share compounds with ASAH2B: view

Transcripts for ASAH2B Gene

mRNA/cDNA for ASAH2B Gene

(8) 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:

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

No ASD Table

Relevant External Links for ASAH2B Gene

GeneLoc Exon Structure for
ASAH2B
ECgene alternative splicing isoforms for
ASAH2B

Expression for ASAH2B Gene

mRNA expression in normal human tissues for ASAH2B Gene

SOURCE GeneReport for Unigene cluster for ASAH2B Gene Hs.710005

mRNA Expression by UniProt/SwissProt for ASAH2B Gene

P0C7U1-ASA2B_HUMAN
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.
genes like me logo Genes that share expression patterns with ASAH2B: view

Primer Products

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 and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia -- 36
  • 15 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 47 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 12 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Asah2 36
  • 16 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 13 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 36
  • 11 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 13 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii asah2 36
  • 11 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CDase 36
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 6 (a)
ManyToMany
-- 36
  • 7 (a)
ManyToMany
-- 36
  • 6 (a)
ManyToMany
Species with no ortholog for ASAH2B:
  • 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

ENSEMBL:
Gene Tree for ASAH2B (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1513250 -- 50,756,029(-) TCAGA(C/T)TGTCA utr-variant-3-prime
rs13189 -- 50,757,005(+) TTTCT(C/T)ATGTT utr-variant-3-prime
rs3001847 -- 50,757,075(+) TTCTT(C/T)GAAAA utr-variant-3-prime
rs1913238 -- 50,744,315(+) TACAG(A/T)CAAAT intron-variant
rs1913239 -- 50,744,483(+) AGAGC(A/G)TTAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv895393 CNV Gain 21882294

Variation tolerance for ASAH2B Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ASAH2B Gene

Disorders for ASAH2B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ASAH2B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 S.S. (Neurogenetics 2007) 2 3 4 67
  2. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3
  3. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 3

Products for ASAH2B Gene

Sources for ASAH2B Gene

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