ABHD16A
Abhydrolase Domain Containing 16A, Phospholipase
Gene Information Card
| Symbol | ABHD16A |
|---|---|
| Full Name | Abhydrolase Domain Containing 16A |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 7920 ncbi.nlm.nih.gov/gene/7920 |
| Ensembl ID | ENSG00000124562 |
| UniProt ID | O95870 |
| OMIM ID | 613651 |
| HGNC ID | 13908 |
| Aliases | ABHD16A, BAT5, D6S82E, G5, NG26 |
Description
ABHD16A (abhydrolase domain containing 16A) is a protein-coding gene located on chromosome 6p21.33 within the major histocompatibility complex (MHC) class III region. It encodes a phospholipase that hydrolyzes lysophosphatidylcholine and other phospholipids, playing a role in lipid metabolism and immune regulation. The gene is also known as BAT5 (HLA-B associated transcript 5).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 10.2 | Medium |
| Brain | 8.5 | Medium |
| Liver | 12.1 | Medium |
| Lung | 9.8 | Medium |
| Spleen | 15.3 | High |
| Testis | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 11.5 | Medium |
| HeLa | 9.2 | Medium |
| K562 | 14.0 | High |
| HepG2 | 10.8 | Medium |
| A549 | 8.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004620 - phospholipase activity | • GO:0016787 - hydrolase activity |
| • GO:0006629 - lipid metabolic process | • GO:0005737 - cytoplasm |
| • GO:0016021 - integral component of membrane |
Pathways
• Glycerophospholipid metabolism (Reactome: R-HSA-1483206)
• Phospholipid metabolism (KEGG: hsa00564)
Protein Summary
ABHD16A encodes a 439-amino acid protein belonging to the alpha/beta hydrolase superfamily. It functions as a phospholipase, preferentially hydrolyzing lysophosphatidylcholine to produce glycerophosphocholine and a free fatty acid. The protein is localized to the cytoplasm and membrane, and is involved in lipid catabolism. Its expression is highest in spleen and liver, suggesting roles in immune and metabolic processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD16A Knockout HEK293 Cell Line | EDJ-KQ6143 | Human | 7920 | Details Get a Quote |
| ABHD16A Knockout A-549 Cell Line | EDJ-KQ29931 | Human | 7920 | Details Get a Quote |
| ABHD16A Knockout HCT 116 Cell Line | EDJ-KQ29932 | Human | 7920 | Details Get a Quote |
| ABHD16A Knockout HeLa Cell Line | EDJ-KQ29933 | Human | 7920 | Details Get a Quote |
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