ZDHHC12
Zinc Finger DHHC-Type Palmitoyltransferase 12
Gene Information Card
| Symbol | ZDHHC12 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 84885 ncbi.nlm.nih.gov/gene/84885 |
| Ensembl ID | ENSG00000107165 |
| UniProt ID | Q96M91 |
| OMIM ID | 618083 |
| HGNC ID | 19159 |
| Aliases | DHHC-12, ZNF400 |
Description
ZDHHC12 encodes a member of the DHHC palmitoyltransferase family, which catalyzes the addition of palmitate to cysteine residues of target proteins. This post-translational modification regulates protein trafficking, stability, and signaling. ZDHHC12 is involved in neuronal development and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function mutations in ZDHHC12 impair palmitoylation of synaptic proteins, disrupting neuronal signaling. | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in ZDHHC12 have been associated with ASD through altered palmitoylation of neuroligins. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HEK293 | 9.8 | Embryonic kidney |
| HeLa | 7.4 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.463C>T (p.Arg155*) | Nonsense | Rare | Loss of function |
| c.572G>A (p.Arg191Gln) | Missense | Rare | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking catalytic DHHC domain.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • transferase activity (GO:0016746) | • endoplasmic reticulum (GO:0005783) |
| • peptidyl-L-cysteine S-palmitoylation (GO:0018230) | • Golgi apparatus (GO:0005794) |
Pathways
• Protein palmitoylation (Reactome: R-HSA-163841)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
ZDHHC12 is a 262-amino acid integral membrane protein with a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for palmitoyltransferase activity. It localizes to the endoplasmic reticulum and Golgi apparatus, where it palmitoylates substrates including synaptic proteins and signaling molecules.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC12 Knockout HEK293 Cell Line | EDJ-KQ10234 | Human | 84885 | Details Get a Quote |
| ZDHHC12 Knockout A-549 Cell Line | EDJ-KQ37411 | Human | 84885 | Details Get a Quote |
| ZDHHC12 Knockout HCT 116 Cell Line | EDJ-KQ37412 | Human | 84885 | Details Get a Quote |
| ZDHHC12 Knockout HeLa Cell Line | EDJ-KQ37413 | Human | 84885 | Details Get a Quote |
