ABHD18: Abhydrolase Domain Containing 18
A gene encoding a putative hydrolase with potential roles in lipid metabolism and cellular signaling.
Gene Information Card
| Symbol | ABHD18 |
|---|---|
| Full Name | Abhydrolase Domain Containing 18 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q28.1 |
| NCBI Gene ID | 100130776 ncbi.nlm.nih.gov/gene/100130776 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | Q6P3W7 |
| OMIM ID | 617476 |
| HGNC ID | 26450 |
| Aliases | FLJ32743, MGC16384 |
Description
ABHD18 (Abhydrolase Domain Containing 18) is a protein-coding gene located on chromosome 4q28.1. The encoded protein belongs to the alpha/beta hydrolase superfamily, characterized by a conserved catalytic domain. While the precise biological function remains under investigation, ABHD18 is predicted to possess hydrolase activity, potentially involved in lipid metabolism or cellular signaling pathways. Expression data suggest broad tissue distribution with moderate levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not yet established | Unknown | No curated disease associations in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.3 | Medium |
| Testis | 8.7 | Low |
| Lung | 6.4 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.1 | Hepatocellular carcinoma |
| HEK 293 | 9.8 | Embryonic kidney |
| A549 | 7.2 | Lung carcinoma |
| K562 | 5.6 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.567delG (p.Gly190Valfs*12) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift variants (e.g., p.Gly190Valfs*12) are predicted to cause premature truncation and likely loss of hydrolase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ABHD18.
Dominant Negative (DN)
No dominant-negative mechanisms have been described for ABHD18.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity | • alpha/beta hydrolase fold |
| • lipid metabolic process | • membrane |
Pathways
• No specific pathways curated in Reactome or KEGG for ABHD18.
Protein Summary
The ABHD18 protein (UniProt Q6P3W7) is a 456-amino acid member of the alpha/beta hydrolase superfamily. It contains a conserved catalytic triad (Ser-Asp-His) typical of serine hydrolases. Structural predictions suggest a globular fold with a central beta-sheet flanked by alpha-helices. The protein is localized to the cytoplasm and possibly associated with membranes. Its exact substrate remains unknown, but it may participate in lipid deacylation or signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD18 Knockout HEK293 Cell Line | EDJ-KQ9474 | Human | 80167 | Details Get a Quote |
| ABHD18 Knockout HeLa Cell Line | EDJ-KQ34939 | Human | 80167 | Details Get a Quote |
| ABHD18 Knockout A-549 Cell Line | EDJ-KQ36182 | Human | 80167 | Details Get a Quote |
| ABHD18 Knockout HCT 116 Cell Line | EDJ-KQ36183 | Human | 80167 | Details Get a Quote |
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