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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NDUFV2
NADH:ubiquinone oxidoreductase core subunit V2
Chromosome 18 Β· 18p11.22
NCBI Gene: 4729Ensembl: ENSG00000178127.14HGNC: HGNC:7717UniProt: P19404
101PubMed Papers
21Diseases
3Drugs
16Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmitochondrial inner membranemitochondrionNADH dehydrogenase (ubiquinone) activitymitochondrial complex I deficiency, nuclear type 7mitochondrial complex I deficiencytype 2 diabetes mellitusParkinson disease
✦AI Summary

NDUFV2 encodes the 24-kDa iron-sulfur subunit of mitochondrial respiratory complex I, which catalyzes electron transfer from NADH to ubiquinone in the electron transport chain 12. The gene is located on chromosome 18.2-p11.31 and spans approximately 20-31.5 kb with 8 exons 12. NDUFV2 contains an N-terminal mitochondrial targeting sequence (first 22 residues) that directs the protein to mitochondria, where it undergoes cleavage around amino acid 32 3. The protein functions in the peripheral arm of complex I, accepting electrons from NADH via flavin mononucleotide and transferring them through iron-sulfur clusters to ubiquinone 3. Disease associations include early-onset hypertrophic cardiomyopathy and encephalopathy, where mutations affecting mitochondrial targeting impair cellular respiration 3. NDUFV2 expression is dysregulated in psychiatric disorders, with decreased levels in bipolar I disorder and schizophrenia lymphoblastoid cells 4. Recent studies identify NDUFV2 as a potential therapeutic target in Alzheimer's disease and demonstrate its role in cancer radioresistance through regulation of macrophage metabolism and ferroptosis 56. The gene has clinical significance in mitochondrial complex I deficiency and various neuropsychiatric conditions.

Sources cited
1
NDUFV2 gene structure, chromosomal location, and function as 24-kDa subunit of complex I
PMID: 7607668
2
Gene organization, chromosomal localization to 18p11.3, and structural features
PMID: 7488192
3
Mitochondrial targeting sequence identification and disease association with cardiomyopathy/encephalopathy
PMID: 21548921
4
Expression dysregulation in bipolar disorder and schizophrenia
PMID: 19135101
5
Identification as potential therapeutic target in Alzheimer's disease
PMID: 40074652
6
Role in cancer radioresistance through macrophage metabolism regulation
PMID: 41419454
Disease Associationsβ“˜21
mitochondrial complex I deficiency, nuclear type 7Open Targets
0.72Strong
mitochondrial complex I deficiencyOpen Targets
0.61Moderate
type 2 diabetes mellitusOpen Targets
0.61Moderate
Parkinson diseaseOpen Targets
0.61Moderate
diabetes mellitusOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.57Moderate
multiple sclerosisOpen Targets
0.55Moderate
Alzheimer diseaseOpen Targets
0.53Moderate
lysosomal storage diseaseOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.47Moderate
progressive cavitating leukoencephalopathyOpen Targets
0.42Moderate
polycystic ovary syndromeOpen Targets
0.41Moderate
gestational diabetesOpen Targets
0.41Moderate
Insulin resistanceOpen Targets
0.40Moderate
obesityOpen Targets
0.40Weak
metabolic syndromeOpen Targets
0.40Weak
prediabetes syndromeOpen Targets
0.40Weak
type 1 diabetes mellitusOpen Targets
0.39Weak
Disorder of lipid metabolismOpen Targets
0.38Weak
agingOpen Targets
0.37Weak
Mitochondrial complex I deficiency, nuclear type 7UniProt
Pathogenic Variants16
NM_021074.5(NDUFV2):c.62_63del (p.His21fs)Pathogenic
not provided|Mitochondrial complex I deficiency, nuclear type 7
β˜…β˜…β˜†β˜†2025β†’ Residue 21
NM_021074.5(NDUFV2):c.120+5_120+8delPathogenic
Mitochondrial complex I deficiency, nuclear type 7|not provided
β˜…β˜…β˜†β˜†2025
NM_021074.5(NDUFV2):c.547G>A (p.Ala183Thr)Pathogenic
Mitochondrial complex I deficiency, nuclear type 7|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 183
NM_021074.5(NDUFV2):c.230_236del (p.Ala77fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 77
NM_021074.5(NDUFV2):c.206del (p.Asn69fs)Pathogenic
Mitochondrial complex I deficiency, nuclear type 7
β˜…β˜†β˜†β˜†2026β†’ Residue 69
NM_021074.5(NDUFV2):c.505_506del (p.Phe169fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 169
NM_021074.5(NDUFV2):c.492_502del (p.Pro165fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 165
NM_021074.5(NDUFV2):c.237_246del (p.Leu80fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 80
NM_021074.5(NDUFV2):c.300+2T>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_021074.5(NDUFV2):c.1A>C (p.Met1Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1
NM_021074.5(NDUFV2):c.587del (p.Asp195_Leu196insTer)Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 7
β˜…β˜†β˜†β˜†2023β†’ Residue 195
NM_021074.5(NDUFV2):c.206dup (p.Asn69fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 69
NM_021074.5(NDUFV2):c.394dup (p.Ile132fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 132
NM_021074.5(NDUFV2):c.491_492insGT (p.Pro165fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2021β†’ Residue 165
NM_021074.5(NDUFV2):c.569A>G (p.Asp190Gly)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2014β†’ Residue 190
NM_021074.5(NDUFV2):c.346G>C (p.Ala116Pro)Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 7
β˜†β˜†β˜†β˜†2022β†’ Residue 116
View on ClinVar β†—
Drug Targets3
ME-344Phase I/II
Mitochondrial complex I (NADH dehydrogenase) inhibitor
breast cancer
METFORMINApproved
Mitochondrial complex I (NADH dehydrogenase) inhibitor
diabetes mellitus
METFORMIN HYDROCHLORIDEApproved
Mitochondrial complex I (NADH dehydrogenase) inhibitor
type 2 diabetes mellitus
Related Genes
ATP5PFProtein interaction100%BLVRBProtein interaction100%COX5BProtein interaction100%COX6A2Protein interaction100%COX6B1Protein interaction100%COX7A1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
61%
Brain
60%
Lung
22%
Ovary
12%
Heart
1%
Gene Interaction Network
Click a node to explore
NDUFV2ATP5PFBLVRBCOX5BCOX6A2COX6B1COX7A1
PROTEIN STRUCTURE
Preparing viewer…
PDB5XTB Β· 3.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.60LoF Tolerant
pLIβ“˜
0.83Intermediate
Observed/Expected LoF0.32 [0.18–0.60]
RankingsWhere NDUFV2 stands among ~20K protein-coding genes
  • #4,729of 20,598
    Most Researched101 Β· top quartile
  • #598of 1,025
    FDA-Approved Drug Targets2
  • #2,400of 5,498
    Most Pathogenic Variants16
  • #4,162of 17,882
    Most Constrained (LOEUF)0.60 Β· top quartile
Genes detectedNDUFV2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
LC3A-mediated autophagy regulates lung cancer cell plasticity.
PMID: 34470575
Autophagy Β· 2022
1.00
2
Human papillomavirus integration perspective in small cell cervical carcinoma.
PMID: 36216793
Nat Commun Β· 2022
0.90
3
Multi-omics analysis of druggable genes to facilitate Alzheimer's disease therapy: A multi-cohort machine learning study.
PMID: 40074652
J Prev Alzheimers Dis Β· 2025
0.80
4
Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene.
PMID: 7607668
Genomics Β· 1995
0.70
5
Mitochondrial targeting of human NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) and its association with early-onset hypertrophic cardiomyopathy and encephalopathy.
PMID: 21548921
J Biomed Sci Β· 2011
0.60