NANOGNB
Chr 12NANOG neighbor homeobox
This gene encodes a predicted DNA-binding transcription factor that regulates RNA polymerase II-mediated transcription in the nucleus. The gene shows minimal constraint against loss-of-function variants (pLI 0.004, LOEUF 1.12), and no definitive disease associations have been established in pediatric or adult populations. Clinical significance of variants in this gene remains uncertain.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
87 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 41 | 0 | 41 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 26 | 9 | 0 | 35 |
Likely Benign | 0 | 2 | 1 | 0 | 3 |
Benign | 0 | 0 | 3 | 0 | 3 |
| Total | 0 | 28 | 56 | 0 | 84 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NANOGNB · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools