ASAH2B
N-acylsphingosine amidohydrolase 2B
Gene Information Card
| Symbol | ASAH2B |
|---|---|
| Full Name | N-acylsphingosine amidohydrolase 2B |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.23 |
| NCBI Gene ID | 653308 ncbi.nlm.nih.gov/gene/653308 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | Q5QJ74 |
| OMIM ID | 613488 |
| HGNC ID | 24799 |
| Aliases | ASAH2L, bA152H21.1 |
Description
ASAH2B (N-acylsphingosine amidohydrolase 2B) is a protein-coding gene that encodes a ceramidase enzyme involved in the hydrolysis of ceramide into sphingosine and free fatty acid. This gene is part of the ceramidase family and plays a role in sphingolipid metabolism. It is located on chromosome 10q11.23 and is primarily expressed in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Farber lipogranulomatosis | Deficiency in ceramidase activity leads to accumulation of ceramide | OMIM #228000 |
| Spinal muscular atrophy with progressive myoclonic epilepsy | Potential involvement in ceramide metabolism | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 4.1 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HEK293 | 6.7 | Embryonic kidney cells |
| HeLa | 3.1 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.001% | Unknown |
| c.456C>T | nonsense | 0.0005% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • ceramidase activity | • sphingolipid metabolic process |
| • intracellular membrane-bounded organelle |
Pathways
• Sphingolipid metabolism
• Ceramide degradation
Protein Summary
The ASAH2B protein is a ceramidase that catalyzes the hydrolysis of ceramide to sphingosine and free fatty acid. It is involved in sphingolipid metabolism and may play a role in cellular signaling and apoptosis. The protein is predicted to be membrane-associated and is expressed in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASAH2B Knockout HEK293 Cell Line | EDJ-KQ12449 | Human | 653308 | Details Get a Quote |
| ASAH2B Knockout A-549 Cell Line | EDJ-KQ41381 | Human | 653308 | Details Get a Quote |
| ASAH2B Knockout HCT 116 Cell Line | EDJ-KQ41382 | Human | 653308 | Details Get a Quote |
| ASAH2B Knockout HeLa Cell Line | EDJ-KQ41383 | Human | 653308 | Details Get a Quote |
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