ABHD12B
Abhydrolase Domain Containing 12B
Gene Information Card
| Symbol | ABHD12B |
|---|---|
| Full Name | Abhydrolase Domain Containing 12B |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 144568 ncbi.nlm.nih.gov/gene/144568 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N2K0 |
| OMIM ID | 613647 |
| HGNC ID | 25862 |
| Aliases | FLJ22662, MGC131809 |
Description
ABHD12B is a protein-coding gene that belongs to the serine hydrolase family. It encodes a lysophospholipase that catalyzes the hydrolysis of lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. The enzyme is involved in lipid metabolism and may play a role in the nervous system. ABHD12B is closely related to ABHD12, mutations in which are associated with PHARC syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| PHARC syndrome (related to ABHD12) | ABHD12B is a paralog of ABHD12; loss-of-function mutations in ABHD12 cause PHARC, but ABHD12B has not been directly implicated in human disease. | No direct evidence for ABHD12B in disease; inferred from homology. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 3.8 | Low |
| Lung | 2.1 | Low |
| Liver | 1.5 | Low |
| Kidney | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| SH-SY5Y | 6.1 | Higher expression in neuronal cells |
| HepG2 | 2.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.0004 (gnomAD) | Unknown functional effect |
| c.457G>A (p.Gly153Ser) | Missense | 0.0002 (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ABHD12B.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lysophospholipase activity | • hydrolase activity |
| • lipid metabolic process | • membrane |
Pathways
• Glycerophospholipid metabolism
Protein Summary
ABHD12B encodes a 398-amino acid protein with an alpha/beta hydrolase domain. It is a membrane-associated lysophospholipase that converts lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. The protein is predicted to have a single transmembrane domain and is localized to the endoplasmic reticulum and plasma membrane. Its expression is highest in brain and testis, suggesting a role in neural and reproductive tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD12B Knockout HEK293 Cell Line | EDJ-KQ10441 | Human | 145447 | Details Get a Quote |
| ABHD12B Knockout HeLa Cell Line | EDJ-KQ37819 | Human | 145447 | Details Get a Quote |
| ABHD12B Knockout A-549 Cell Line | EDJ-KQ67011 | Human | 145447 | Details Get a Quote |
| ABHD12B Knockout HCT 116 Cell Line | EDJ-KQ75411 | Human | 145447 | Details Get a Quote |
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