ZDHHC22
Zinc Finger DHHC-Type Palmitoyltransferase 22
Gene Information Card
| Symbol | ZDHHC22 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 22 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 283576 ncbi.nlm.nih.gov/gene/283576 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N9N2 |
| OMIM ID | 617902 |
| HGNC ID | 20716 |
| Aliases | DHHC-22, ZDHHC22 |
Description
ZDHHC22 encodes a member of the DHHC family of zinc finger palmitoyltransferases. These enzymes catalyze the addition of palmitate to cysteine residues on target proteins, a post-translational modification critical for protein membrane targeting, trafficking, and function. ZDHHC22 is involved in neuronal development and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Potential loss-of-function affecting neuronal palmitoylation | Limited; inferred from functional studies |
| Cancer (various) | Altered expression may impact cell signaling and proliferation | Observational; expression changes noted in tumor samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal model |
| HEK293 | 9.8 | Embryonic kidney |
| A549 | 7.4 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.365C>T (p.Pro122Leu) | Missense | <0.01% | Unknown; predicted damaging |
| c.518G>A (p.Arg173His) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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)
| • Protein palmitoyltransferase activity | • Zinc ion binding |
| • Membrane | • Endoplasmic reticulum |
| • Palmitoylation |
Pathways
• Protein palmitoylation
• Neuronal system
Protein Summary
ZDHHC22 is a 262-amino acid integral membrane protein localized to the endoplasmic reticulum. It contains a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for palmitoyltransferase activity. The enzyme modifies neuronal substrates, influencing synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC22 Knockout HEK293 Cell Line | EDJ-KQ16210 | Human | 283576 | Details Get a Quote |
| ZDHHC22 Knockout HeLa Cell Line | EDJ-KQ59403 | Human | 283576 | Details Get a Quote |
| ZDHHC22 Knockout A-549 Cell Line | EDJ-KQ67871 | Human | 283576 | Details Get a Quote |
| ZDHHC22 Knockout HCT 116 Cell Line | EDJ-KQ76250 | Human | 283576 | Details Get a Quote |
