DZIP1L

Chr 3AR

DAZ interacting zinc finger protein 1 like

Also known as: DZIP2, PKD5

NCBI Gene: 199221 ENSG00000158163 UniProt: Q8IYY4 OMIM: 617570

Predicted to enable zinc ion binding activity. Involved in cilium assembly and regulation of protein localization. Located in centriole and ciliary basal body. Implicated in polycystic kidney disease 5. [provided by Alliance of Genome Resources, Jun 2026]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Polycystic kidney disease 5MIM #617610

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · autosomal recessive polycystic kidney disease · AR · ClinGen 2024

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.30

LOEUF

Multiple*

Mechanism· predicted

📖

GeneReview available — DZIP1L

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.30LOEUF

pLI 0.000

Z-score 0.06

OE 0.99 (0.76–1.30)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.10Z-score

OE missense 0.99 (0.91–1.07)

430 obs / 435.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.99 (0.76–1.30)

0≤0.351.4

Missense OE?0.99 (0.91–1.07)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 38 / 38.4Missense obs/exp: 430 / 435.9Syn Z: 0.39

Background carrier burden — how many people carry a rare variant somewhere in DZIP1L?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 41

1,083 rare PASS variants

Rare truncating (LoF)

1 in 520

190 rare PASS variants

Rare synonymous (reference)

1 in 94

431 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DZIP1L. 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 54	1 in 490
South Asian	~43k	1 in 33	1 in 1,300
Remaining (unassigned)	~30k	1 in 36	1 in 790
European (Finnish)	~27k	1 in 130	1 in 550
Admixed American	~22k	1 in 35	1 in 590
African / African American	~21k	1 in 42	1 in 390
East Asian	~20k	1 in 50	1 in 770
Ashkenazi Jewish	~13k	1 in 130	≈ 1 in 6,300
Middle Eastern	~2,884	1 in 39	1 in 560

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 15 coding exons well covered in gnomAD exomes and genomes.? see exons ↓