ZDHHC2
Zinc Finger DHHC-Type Palmitoyltransferase 2
Gene Information Card
| Symbol | ZDHHC2 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 51201 ncbi.nlm.nih.gov/gene/51201 |
| Ensembl ID | ENSG00000104219 |
| UniProt ID | Q9UIJ5 |
| OMIM ID | 618362 |
| HGNC ID | 18459 |
| Aliases | DHHC2, ZNF372, REC, REAM |
Description
ZDHHC2 encodes a member of the DHHC family of zinc finger palmitoyltransferases. The protein localizes to the Golgi apparatus and plasma membrane and catalyzes the addition of palmitate to cysteine residues of substrate proteins, a post-translational modification critical for protein trafficking, membrane targeting, and signaling. ZDHHC2 is implicated in cancer suppression and neuronal function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Reduced ZDHHC2 expression correlates with poor prognosis; loss of palmitoylation of CD151 may promote metastasis | PMID: 17981175 |
| Colorectal cancer | ZDHHC2 downregulation associated with tumor progression and metastasis | PMID: 16959974 |
| Intellectual disability | Homozygous missense variants impair palmitoyltransferase activity | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Lung | 6.7 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney |
| HepG2 | 7.8 | Hepatocellular carcinoma |
| A549 | 5.9 | Lung carcinoma |
| SH-SY5Y | 14.1 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.394C>T (p.Arg132Cys) | Missense | Rare | Loss of palmitoyltransferase activity; associated with intellectual disability |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Impaired substrate binding; reported in developmental delay |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg132Cys) reduce or abolish palmitoyltransferase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Palmitoyltransferase activity (GO:0019706) | • Protein palmitoylation (GO:0018345) |
| • Golgi apparatus (GO:0005794) | • Plasma membrane (GO:0005886) |
| • Zinc ion binding (GO:0008270) |
Pathways
• Protein palmitoylation (R-HSA-1632852)
• Palmitoylation of CD151 (R-HSA-8873719)
Protein Summary
ZDHHC2 is a 367-amino acid integral membrane protein with a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for palmitoyltransferase activity. It mediates S-palmitoylation of diverse substrates including CD151, DLG4, and GNA13, influencing cell adhesion, synaptic plasticity, and signaling. Loss of ZDHHC2 function is linked to cancer progression and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC2 Knockout HEK293 Cell Line | EDJ-KQ10970 | Human | 51201 | Details Get a Quote |
| ZDHHC20 Knockout HEK293 Cell Line | EDJ-KQ11747 | Human | 253832 | Details Get a Quote |
| ZDHHC24 Knockout HEK293 Cell Line | EDJ-KQ11766 | Human | 254359 | Details Get a Quote |
| ZDHHC23 Knockout HEK293 Cell Line | EDJ-KQ11779 | Human | 254887 | Details Get a Quote |
| ZDHHC21 Knockout HEK293 Cell Line | EDJ-KQ16209 | Human | 340481 | Details Get a Quote |
| ZDHHC22 Knockout HEK293 Cell Line | EDJ-KQ16210 | Human | 283576 | Details Get a Quote |
| ZDHHC20 Knockout HCT 116 Cell Line | EDJ-KQ40123 | Human | 253832 | Details Get a Quote |
| ZDHHC20 Knockout HeLa Cell Line | EDJ-KQ40124 | Human | 253832 | Details Get a Quote |
| ZDHHC24 Knockout A-549 Cell Line | EDJ-KQ40157 | Human | 254359 | Details Get a Quote |
| ZDHHC24 Knockout HCT 116 Cell Line | EDJ-KQ40158 | Human | 254359 | Details Get a Quote |
| ZDHHC24 Knockout HeLa Cell Line | EDJ-KQ40159 | Human | 254359 | Details Get a Quote |
| ZDHHC23 Knockout A-549 Cell Line | EDJ-KQ40184 | Human | 254887 | Details Get a Quote |
| ZDHHC23 Knockout HCT 116 Cell Line | EDJ-KQ40185 | Human | 254887 | Details Get a Quote |
| ZDHHC23 Knockout HeLa Cell Line | EDJ-KQ40186 | Human | 254887 | Details Get a Quote |
| ZDHHC2 Knockout A-549 Cell Line | EDJ-KQ38790 | Human | 51201 | Details Get a Quote |
