ASAH2 (N-acylsphingosine amidohydrolase 2)

2014-08-01  

Identity

HGNC
LOCATION
10q11.23
LOCUSID
ALIAS
BCDase,HNAC1,LCDase,N-CDase,NCDase
FUSION GENES

Other Information

Locus ID:

NCBI: 56624
MIM: 611202
HGNC: 18860
Ensembl: ENSG00000188611

Variants:

dbSNP: 56624
ClinVar: 56624
TCGA: ENSG00000188611
COSMIC: ASAH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188611ENST00000329428A0A0C4DFQ8
ENSG00000188611ENST00000395526Q9NR71
ENSG00000188611ENST00000443575E9PBM9
ENSG00000188611ENST00000447815Q9NR71
ENSG00000188611ENST00000474434V9GY52
ENSG00000188611ENST00000489640V9GYJ5
ENSG00000188611ENST00000656090Q9NR71

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
Sphingosine biosynthesisKEGGM00099
Sphingosine biosynthesisKEGGhsa_M00099
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
169401532006Golgi alkaline ceramidase regulates cell proliferation and survival by controlling levels of sphingosine and S1P.53
158453542005Subcellular localization of human neutral ceramidase expressed in HEK293 cells.28
205206282010Hydrolytic pathway protects against ceramide-induced apoptosis in keratinocytes exposed to UVB.27
243979802014Adiponectin inhibits tumor necrosis factor-α-induced vascular inflammatory response via caveolin-mediated ceramidase recruitment and activation.23
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
261905752015Structural Basis for Ceramide Recognition and Hydrolysis by Human Neutral Ceramidase.17
162296862006Identification of a novel amidase motif in neutral ceramidase.16
152107662004Cooperative prosurvival activity by ERK and Akt in human alveolar macrophages is dependent on high levels of acid ceramidase activity.14
174753902007Purification and characterization of human intestinal neutral ceramidase.12

Citation

Dessen P

ASAH2 (N-acylsphingosine amidohydrolase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54137/asah2