ZNF37A

Chr 10

zinc finger protein 37A

Also known as: KOX21, ZNF37

NCBI Gene: 7587 ENSG00000075407 UniProt: P17032 OMIM: 616085

The protein functions as a DNA-binding transcription factor that regulates gene expression by RNA polymerase II in the nucleus. This gene shows very low constraint against loss-of-function variants (pLI near 0, LOEUF >1), and no definitive disease associations have been established in the provided data. Currently, there is insufficient evidence to determine specific disease phenotypes or inheritance patterns associated with ZNF37A mutations.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.20

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.20LOEUF

pLI 0.000

Z-score 0.87

OE 0.79 (0.54–1.20)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.08Z-score

OE missense 1.01 (0.92–1.12)

288 obs / 284.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.79 (0.54–1.20)

0≤0.351.4

Missense OE?1.01 (0.92–1.12)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 16 / 20.2Missense obs/exp: 288 / 284.1Syn Z: 0.62

Background carrier burden — how many people carry a rare variant somewhere in ZNF37A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 74

668 rare PASS variants

Rare truncating (LoF)

1 in 910

108 rare PASS variants

Rare synonymous (reference)

1 in 190

239 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZNF37A. 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 79	1 in 1,100
South Asian	~43k	1 in 74	1 in 1,500
Remaining (unassigned)	~30k	1 in 73	1 in 630
European (Finnish)	~27k	1 in 250	1 in 3,300
Admixed American	~22k	1 in 80	1 in 360
African / African American	~21k	1 in 60	1 in 550
East Asian	~20k	1 in 110	1 in 220
Ashkenazi Jewish	~13k	1 in 510	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 73	≈ 1 in 580

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.