ASAH2B

Protein-coding gene in the species Homo sapiens
ASAH2B
Identifiers
AliasesASAH2B, ASAH2L, bA449O16.3, bA98I6.3, N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B, ASAH2C, N-acylsphingosine amidohydrolase 2B
External IDsGeneCards: ASAH2B; OMA:ASAH2B - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for ASAH2B
Genomic location for ASAH2B
Band10q11.23Start50,739,318 bp[1]
End50,816,495 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • duodenum

  • islet of Langerhans

  • ganglionic eminence

  • superior frontal gyrus

  • liver

  • rectum

  • stromal cell of endometrium

  • prefrontal cortex

  • left adrenal gland

  • right adrenal gland
    n/a
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • N-acylsphingosine amidohydrolase activity
Cellular component
  • extracellular region
Biological process
  • long-chain fatty acid biosynthetic process
  • sphingosine biosynthetic process
  • ceramide catabolic process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

653308

n/a

Ensembl

ENSG00000204147

n/a

UniProt

P0C7U1

n/a

RefSeq (mRNA)

NM_001079516
NM_001321957
NM_001321958
NM_001321959
NM_001321960

n/a

RefSeq (protein)

NP_001072984
NP_001308886
NP_001308887
NP_001308888
NP_001308889

n/a

Location (UCSC)Chr 10: 50.74 – 50.82 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Neutral ceramidase B also known as non-lysosomal ceramidase B or N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B or ASAH2B is a ceramidase enzyme which in humans is encoded by the ASAH2B gene.[3][4]

Clinical significance

ASAH2B shows reduced expression with increasing age and further reduction in late onset Alzheimer's disease patients.[3]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000204147 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ a b Avramopoulos D, Wang R, Valle D, Fallin MD, Bassett SS (April 2007). "A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease". Neurogenetics. 8 (2): 111–20. doi:10.1007/s10048-007-0081-5. PMID 17334805. S2CID 20156514.
  4. ^ Deloukas P, Earthrowl ME, Grafham DV, et al. (May 2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. Bibcode:2004Natur.429..375D. doi:10.1038/nature02462. PMID 15164054.

External links

Further reading

  • Brandenberger R, Wei H, Zhang S, et al. (2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.


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