ABHD14B
Abhydrolase Domain Containing 14B
Gene Information Card
| Symbol | ABHD14B |
|---|---|
| Full Name | Abhydrolase Domain Containing 14B |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.2 |
| NCBI Gene ID | 84836 ncbi.nlm.nih.gov/gene/84836 |
| Ensembl ID | ENSG00000163631 |
| UniProt ID | Q96IU4 |
| OMIM ID | 617092 |
| HGNC ID | 25627 |
| Aliases | C3orf23, FLJ22386, MGC13170 |
Description
ABHD14B encodes a member of the alpha/beta hydrolase superfamily. The protein exhibits hydrolase activity and is involved in lipid metabolism. It is widely expressed in various tissues, with highest levels in the liver and kidney. The gene is located on chromosome 3p14.2 and spans approximately 10 kb.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No curated entries in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Testis | 8.1 | Low |
| Brain | 6.3 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma |
| HEK293 | 9.5 | Embryonic kidney |
| A549 | 7.2 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.350A>G (p.Asn117Ser) | Missense | <0.01% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity | • alpha/beta hydrolase fold |
| • lipid metabolic process |
Pathways
• No specific pathways curated
Protein Summary
ABHD14B is a 267-amino acid protein belonging to the alpha/beta hydrolase superfamily. It contains a conserved catalytic triad (Ser-Asp-His) typical of serine hydrolases. The protein is predicted to localize to the cytoplasm and may participate in lipid catabolism. Structural studies suggest a compact globular fold with a central beta-sheet.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD14B Knockout HEK293 Cell Line | EDJ-KQ9445 | Human | 84836 | Details Get a Quote |
| ABHD14B Knockout A-549 Cell Line | EDJ-KQ37373 | Human | 84836 | Details Get a Quote |
| ABHD14B Knockout HCT 116 Cell Line | EDJ-KQ37374 | Human | 84836 | Details Get a Quote |
| ABHD14B Knockout HeLa Cell Line | EDJ-KQ37375 | Human | 84836 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
