ABHD15 Gene - Abhydrolase Domain Containing 15
Comprehensive gene information for ABHD15, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | ABHD15 |
|---|---|
| Full Name | abhydrolase domain containing 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 120892 ncbi.nlm.nih.gov/gene/120892 |
| Ensembl ID | ENSG00000184979 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 617826 |
| HGNC ID | 28336 |
| Aliases | MGC13170, FLJ22662 |
Description
ABHD15 (abhydrolase domain containing 15) is a protein-coding gene located on chromosome 17p13.3. The encoded protein contains an alpha/beta hydrolase fold domain, but its specific enzymatic function and biological role remain largely uncharacterized. Expression data suggest it may be involved in metabolic processes, though further studies are needed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Liver | 3.8 | Low |
| Brain | 2.1 | Not detected |
| Heart | 1.5 | Not detected |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.5 | Hepatocellular carcinoma cell line |
| HeLa | 2.3 | Cervical adenocarcinoma cell line |
| HEK293 | 3.1 | Embryonic kidney cell line |
| K562 | 1.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • GO:0016787 (hydrolase activity) | • GO:0005737 (cytoplasm) |
Protein Summary
The ABHD15 protein (UniProt Q6ZP29) is 336 amino acids long and contains an alpha/beta hydrolase fold domain. Its precise catalytic activity is unknown, but it is predicted to be a hydrolase. Expression is low in most tissues, with highest levels in adipose and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD15 Knockout HEK293 Cell Line | EDJ-KQ7556 | Human | 116236 | Details Get a Quote |
| ABHD15 Knockout HeLa Cell Line | EDJ-KQ31512 | Human | 116236 | Details Get a Quote |
| ABHD15 Knockout A-549 Cell Line | EDJ-KQ32860 | Human | 116236 | Details Get a Quote |
| ABHD15 Knockout HCT 116 Cell Line | EDJ-KQ32861 | Human | 116236 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
