ZDHHC18

protein-coding

zinc finger DHHC-type palmitoyltransferase 18, the group of Zinc fingers DHHC-type

Gene summary

Enables protein-cysteine S-palmitoyltransferase activity. Involved in negative regulation of cGAS/STING signaling pathway; negative regulation of innate immune response; and peptidyl-L-cysteine S-palmitoylation. Is active in Golgi apparatus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_032283.3

Inheritance

—

ClinVar variants

U:56

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.43

Max pathogenic AF

—

Genomic locus

chr1:26,826,688-26,857,604

External References & Databases

Ensembl (ENSG00000204160)

Transcript & Mutation Effects

hg38 • Region Span ~30.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZDHHC18 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 51

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032283.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar			2
missense			52 clinvar			52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	56	0	0	56

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032283.3	RefSeq	NP_115659.1	8	MANE Select
ENST00000374142.9	Ensembl	ENSP00000363257.3	8	MANE Select
ENST00000374141.6	Ensembl	ENSP00000363256.2	7	Standard
ENST00000374141.7	Ensembl	ENSP00000363256.2	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein targeting to membrane
peptidyl-L-cysteine S-palmitoylation
protein palmitoylation

Molecular Function

palmitoyltransferase activity
protein-cysteine S-palmitoyltransferase activity

Cellular Component

endoplasmic reticulum
Golgi apparatus
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000374142
Coding exons: 8
Length: 30893
Individuals with no LoFs: 125726
Homozygous LoFs: 0
Heterozygous LoFs: 22
Defined: 125748
p: 0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.66	129	194	0.665	0.0000121	2504
Missense (PolyPhen)		57	91.192	0.62505		992
Synonymous	1.27	65	79.4	0.819	0.00000502	834
Loss of Function	2.14	7	16.3	0.429	0.00000108	170

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000053	0.000053	rare
South Asian	0.00033	0.00033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Has palmitoyltransferase activity towards HRAS and LCK. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.724
RVIS EVS: -0.32
RVIS percentile EVS: 31.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0780

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium