Gene Gene information from NCBI Gene database.
Entrez ID 56624
Gene name N-acylsphingosine amidohydrolase 2
Gene symbol ASAH2
Synonyms (NCBI Gene)
BCDaseHNAC1LCDaseN-CDaseNCDase
Chromosome 10
Chromosome location 10q11.23
Summary 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 phosp
miRNA miRNA information provided by mirtarbase database.
636
miRTarBase ID miRNA Experiments Reference
MIRT607215 hsa-miR-329-3p HITS-CLIP 19536157
MIRT607214 hsa-miR-362-3p HITS-CLIP 19536157
MIRT607213 hsa-miR-8485 HITS-CLIP 19536157
MIRT607212 hsa-miR-6887-3p HITS-CLIP 19536157
MIRT607215 hsa-miR-329-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005509 Function Calcium ion binding IDA 26190575
GO:0005576 Component Extracellular region IBA
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611202 18860 ENSG00000188611
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NR71
Protein name Neutral ceramidase (N-CDase) (NCDase) (EC 3.5.1.-) (EC 3.5.1.23) (Acylsphingosine deacylase 2) (BCDase) (LCDase) (hCD) (N-acylsphingosine amidohydrolase 2) (Non-lysosomal ceramidase) [Cleaved into: Neutral ceramidase soluble form]
Protein function Plasma membrane ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at neutral pH (PubMed:10781606, PubMed:16229686, PubMed:26190575). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphat
PDB 4WGK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04734 Ceramidase_alk 102 608 Neutral/alkaline non-lysosomal ceramidase, N-terminal Domain
PF17048 Ceramidse_alk_C 610 777 Neutral/alkaline non-lysosomal ceramidase, C-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Primarily expressed in intestine (PubMed:17334805). Ubiquitously expressed with higher levels in kidney, skeletal muscle and heart (PubMed:10781606). The ubiquitous expression observed for ASAH2 might be an experimental artifact due to
Sequence
Sequence length 780
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
  Glycosphingolipid metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CELIAC DISEASE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 32036209 Associate
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease CTD_human_DG 30097691
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Colorectal Neoplasms BEFREE 30154232
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 30154232 Associate
★☆☆☆☆
Found in Text Mining only
Congenital diaphragmatic hernia Congenital diaphragmatic hernia BEFREE 26187646
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic Fibrosis BEFREE 18955860
★☆☆☆☆
Found in Text Mining only
Dementia Dementia BEFREE 31557051
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 24586752 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 30189596
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 30189596
★☆☆☆☆
Found in Text Mining only