ZNF16

Chr 8

zinc finger protein 16

Also known as: HZF1, KOX9

NCBI Gene: 7564 ENSG00000170631 UniProt: P17020 OMIM: 601262

This gene encodes a zinc finger transcriptional activator that promotes cell proliferation and facilitates erythroid and megakaryocytic cell differentiation while inhibiting apoptosis. The gene shows no constraint against loss-of-function variants (very low pLI score), suggesting that ZNF16 mutations may not cause severe developmental disorders. No well-established Mendelian diseases have been definitively linked to ZNF16 mutations in current clinical databases.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains multiple tandem zinc finger motifs. The encoded protein is involved in the differentiation of erythroid and megakaryocytic cells. This gene is located in a cluster of related genes on chromosome 8 encoding zinc finger proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.25LOEUF

pLI 0.000

Z-score 0.61

OE 0.86 (0.61–1.25)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.12Z-score

OE missense 0.98 (0.90–1.07)

373 obs / 379.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.86 (0.61–1.25)

0≤0.351.4

Missense OE?0.98 (0.90–1.07)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 20 / 23.2Missense obs/exp: 373 / 379.7Syn Z: -0.38

Background carrier burden — how many people carry a rare variant somewhere in ZNF16?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 56

871 rare PASS variants

Rare truncating (LoF)

1 in 1,200

122 rare PASS variants

Rare synonymous (reference)

1 in 160

327 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZNF16. 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 120	1 in 1,200
South Asian	~43k	1 in 49	1 in 1,100
Remaining (unassigned)	~30k	1 in 45	1 in 770
European (Finnish)	~27k	1 in 170	1 in 5,300
Admixed American	~22k	1 in 51	1 in 1,700
African / African American	~21k	1 in 60	1 in 1,000
East Asian	~20k	1 in 89	1 in 650
Ashkenazi Jewish	~13k	1 in 220	1 in 2,500
Middle Eastern	~2,884	1 in 72	none seen

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