ZDHHC5

Chr 11

zDHHC palmitoyltransferase 5

Also known as: DHHC5, ZNF375

NCBI Gene: 25921 ENSG00000156599 UniProt: Q9C0B5 OMIM: 614586

Enables protein-cysteine S-palmitoyltransferase activity. Involved in positive regulation of defense response; positive regulation of protein localization to plasma membrane; and protein localization to plasma membrane. Acts upstream of or within protein palmitoylation. Located in phagocytic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.09

LOEUF· LoF intol.

LOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.09LOEUF

pLI 1.000

Z-score 5.39

OE 0.00 (0.00–0.09)

Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?

1.85Z-score

OE missense 0.75 (0.69–0.82)

329 obs / 437.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.09)

0≤0.351.4

Missense OE?0.75 (0.69–0.82)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 0 / 33.9Missense obs/exp: 329 / 437.9Syn Z: 0.02

Background carrier burden — how many people carry a rare variant somewhere in ZDHHC5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 65

786 rare PASS variants

Rare truncating (LoF)

1 in 4,800

52 rare PASS variants

Rare synonymous (reference)

1 in 180

346 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZDHHC5. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 92	1 in 4,500
South Asian	~43k	1 in 56	≈ 1 in 22,000
Remaining (unassigned)	~30k	1 in 74	≈ 1 in 10,000
European (Finnish)	~27k	1 in 190	1 in 2,400
Admixed American	~22k	1 in 85	≈ 1 in 11,000
African / African American	~21k	1 in 66	none seen
East Asian	~20k	1 in 74	≈ 1 in 6,600
Ashkenazi Jewish	~13k	1 in 290	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 83	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 11 coding exons well covered in gnomAD exomes and genomes.? see exons ↓