ABHD16B
Abhydrolase Domain Containing 16B
Gene Information Card
| Symbol | ABHD16B |
|---|---|
| Full Name | Abhydrolase Domain Containing 16B |
| Gene Type | protein-coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 79682 ncbi.nlm.nih.gov/gene/79682 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9H3Z4 |
| OMIM ID | 617752 |
| HGNC ID | 25817 |
| Aliases | FLJ22662, dJ1009E24.1 |
Description
ABHD16B (Abhydrolase Domain Containing 16B) is a protein-coding gene located on chromosome 20p13. It encodes a member of the alpha/beta hydrolase superfamily, which is involved in lipid metabolism and phospholipase activity. The protein is predicted to function as a lysophosphatidylserine lipase and may play a role in immune regulation and neuroinflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations in ABHD16B are associated with impaired lysophosphatidylserine metabolism, leading to altered lipid signaling and neurodevelopmental defects. | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in ABHD16B have been identified in individuals with autism, suggesting a potential role in synaptic lipid homeostasis. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Lung | 4.1 | Low |
| Liver | 3.8 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.9 | Moderate expression |
| SH-SY5Y | 9.1 | High expression in neuronal cells |
| HepG2 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Met) | Missense | Rare | Likely loss of function; associated with neurodevelopmental disorder |
| c.1018G>A (p.Gly340Arg) | Missense | Rare | Uncertain significance; reported in autism cohort |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain reduce hydrolase activity, impairing lysophosphatidylserine metabolism.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ABHD16B.
Dominant Negative (DN)
No dominant-negative effects have been described for ABHD16B.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity | • lysophosphatidylserine lipase activity |
| • lipid metabolic process | • membrane |
Pathways
• Glycerophospholipid metabolism
• Lysophospholipid signaling
Protein Summary
ABHD16B encodes a 420-amino acid protein belonging to the alpha/beta hydrolase superfamily. It is predicted to be a membrane-associated lysophosphatidylserine lipase, catalyzing the deacylation of lysophosphatidylserine to produce free fatty acids and serine. The protein is highly expressed in brain and testis, and its dysfunction is linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD16B Knockout HEK293 Cell Line | EDJ-KQ8999 | Human | 140701 | Details Get a Quote |
| ABHD16B Knockout HeLa Cell Line | EDJ-KQ58451 | Human | 140701 | Details Get a Quote |
| ABHD16B Knockout A-549 Cell Line | EDJ-KQ66937 | Human | 140701 | Details Get a Quote |
| ABHD16B Knockout HCT 116 Cell Line | EDJ-KQ75339 | Human | 140701 | Details Get a Quote |
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