ZNF37A

Chr 10

zinc finger protein 37A

Also known as: KOX21, ZNF37

NCBI Gene: 7587ENSG00000075407UniProt: P17032

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.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
3
Pubs (1 yr)
8
P/LP submissions
0%
P/LP missense
1.20
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— ZNF37A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
8 unique Pathogenic / Likely Pathogenic· 83 VUS of 106 total submissions
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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 OE0.79 (0.54–1.20)
0≤0.351.4
Missense OE1.01 (0.92–1.12)
0≤0.61.4
Synonymous OE0.92
0≤1.21.6
LoF obs/exp: 16 / 20.2Missense obs/exp: 288 / 284.1Syn Z: 0.62
DN
0.89top 5%
GOF
0.83top 10%
LOF
0.2386th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

106 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7
Likely Pathogenic1
VUS83
Likely Benign3
Benign1
7
Pathogenic
1
Likely Pathogenic
83
VUS
3
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
1
0
1
VUS
0
79
4
0
83
Likely Benign
0
1
2
0
3
Benign
0
0
1
0
1
Total08015095

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ZNF37A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients