NDUFB2

Chr 7

NADH:ubiquinone oxidoreductase subunit B2

Also known as: AGGG, CI-AGGG

NCBI Gene: 4708ENSG00000090266UniProt: O95178

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008]

0
Active trials
42
Pathogenic / LP
68
ClinVar variants
7
Pubs (1 yr)
-0.1
Missense Z
1.85
LOEUF
Clinical Summary— NDUFB2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
42 Pathogenic / Likely Pathogenic· 25 VUS of 68 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.85LOEUF
pLI 0.000
Z-score -0.38
OE 1.17 (0.65–1.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.13Z-score
OE missense 1.04 (0.86–1.28)
66 obs / 63.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.17 (0.65–1.85)
0≤0.351.4
Missense OE1.04 (0.86–1.28)
0≤0.61.4
Synonymous OE0.84
0≤1.21.6
LoF obs/exp: 7 / 6.0Missense obs/exp: 66 / 63.2Syn Z: 0.63
DN
DN
0.6938th %ile
GOF
0.6150th %ile
LOF
0.3163th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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

68 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic40
Likely Pathogenic2
VUS25
Likely Benign1
40
Pathogenic
2
Likely Pathogenic
25
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
40
0
40
Likely Pathogenic
0
0
2
0
2
VUS
0
18
7
0
25
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total01850068

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

View in ClinVar →

NDUFB2 · 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
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Identifying NDUFB2 as a prognostic biomarker for glioblastoma through an exploratory analysis of an anesthesia-related gene signature
Wei J et al.·BMC Cancer
2025
Development of a novel immune infiltration-related diagnostic model for Alzheimer's disease using bioinformatic strategies
Zhuang X et al.·Front Immunol
2023Functional
Network Meta-Analysis of Chicken Microarray Data following Avian Influenza Challenge:A Comparison of Highly and Lowly Pathogenic Strains
Pirbaluty AM et al.·Genes (Basel)
2022
Different vitamin D supplementation strategies impact serum vitamin D concentrations and the mRNA expression of genes related to vitamin D metabolism, mitochondria respiration, redox balance, and immune system in weanling piglets.
Dalto DB et al.·J Anim Sci
2025
Tannic Acid Enhances Cold Resistance in Apis mellifera via Antioxidant Defense and Mitochondrial Oxidative Phosphorylation Activation.
Zhang K et al.·J Agric Food Chem
2025
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 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