ASAH2B (N-acylsphingosine amidohydrolase 2B)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 653308
Gene name N-acylsphingosine amidohydrolase 2B
Gene symbol ASAH2B
Synonyms (NCBI Gene)
ASAH2CASAH2LbA449O16.3bA98I6.3
Chromosome 10
Chromosome location 10q11.23
miRNA miRNA information provided by mirtarbase database.
512
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (512)
miRTarBase ID miRNA Experiments Reference
MIRT606997 hsa-miR-8485 HITS-CLIP 19536157
MIRT606996 hsa-miR-329-3p HITS-CLIP 19536157
MIRT606995 hsa-miR-362-3p HITS-CLIP 19536157
MIRT606994 hsa-miR-6887-3p HITS-CLIP 19536157
MIRT606997 hsa-miR-8485 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IEA
GO:0017040 Function N-acylsphingosine amidohydrolase activity IEA
GO:0046512 Process Sphingosine biosynthetic process IEA
GO:0046513 Process Ceramide biosynthetic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610987 23456 ENSG00000204147
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0C7U1
Protein name Putative inactive neutral ceramidase B (ASAH2-like protein) (Putative inactive N-acylsphingosine amidohydrolase 2B) (Putative inactive non-lysosomal ceramidase B)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17048 Ceramidse_alk_C 15 → 162 Neutral/alkaline non-lysosomal ceramidase, C-terminal Domain
Tissue specificity 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. {ECO:0000269|PubMed:17334805}.
Sequence
Sequence length 165
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (3)
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
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 29848693
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 29848693
★★★★★
★☆☆☆☆
Found in Text Mining only