NDUFB7
gene geneOn this page
Also known as B18CI-B18MGC2480
Summary
NDUFB7 (NADH:ubiquinone oxidoreductase subunit B7, HGNC:7702) is a protein-coding gene on chromosome 19p13.12, encoding NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 (P17568). Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. It is a selective cancer dependency (DepMap: 47.9% of cell lines).
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. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
Source: NCBI Gene 4713 — RefSeq curated summary.
At a glance
- Gene–disease (curated): mitochondrial complex I deficiency, nuclear type 39 (Moderate, GenCC) — +1 more curated relationship
- GWAS associations: 1
- Clinical variants (ClinVar): 30 total — 1 likely-pathogenic
- Phenotypes (HPO): 17
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 47.9% of screened cell lines
- MANE Select transcript:
NM_004146
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7702 |
| Approved symbol | NDUFB7 |
| Name | NADH:ubiquinone oxidoreductase subunit B7 |
| Location | 19p13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | B18, CI-B18, MGC2480 |
| Ensembl gene | ENSG00000099795 |
| Ensembl biotype | protein_coding |
| OMIM | 603842 |
| Entrez | 4713 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay
ENST00000215565, ENST00000593353, ENST00000897442, ENST00000928508
RefSeq mRNA: 1 — MANE Select: NM_004146
NM_004146
CCDS: CCDS12314
Canonical transcript exons
ENST00000215565 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000655642 | 14566765 | 14566933 |
| ENSE00003526432 | 14566078 | 14566265 |
| ENSE00003845910 | 14571889 | 14572066 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 99.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 107.2537 / max 376.3587, expressed in 1828 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179667 | 105.8109 | 1828 |
| 179666 | 1.4429 | 815 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 99.48 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.20 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.17 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.92 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.86 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.80 | gold quality |
| transverse colon | UBERON:0001157 | 98.76 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.74 | gold quality |
| body of stomach | UBERON:0001161 | 98.72 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.72 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.70 | gold quality |
| left coronary artery | UBERON:0001626 | 98.67 | gold quality |
| lower esophagus | UBERON:0013473 | 98.66 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.66 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.64 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.59 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.59 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.59 | gold quality |
| ascending aorta | UBERON:0001496 | 98.58 | gold quality |
| triceps brachii | UBERON:0001509 | 98.58 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.58 | gold quality |
| popliteal artery | UBERON:0002250 | 98.56 | gold quality |
| tibial artery | UBERON:0007610 | 98.56 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.56 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.55 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.55 | gold quality |
| aorta | UBERON:0000947 | 98.52 | gold quality |
| muscle of leg | UBERON:0001383 | 98.51 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.50 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.50 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 47.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- Intra-molecular disulfide bridges and the inter-membrane space localization of three Cx(9)C-containing subunits in human: NDUFS5, NDUFB7 and NDUFA8, are proposed. (PMID:21310150)
- This subunit of complex I is localized in the mitochondrial inter-membrane space. The protein contains intra-molecular disulfide bridges in the twin Cx(9)C motif. (PMID:21310150)
- Protein N-myristoylation plays a critical role in the mitochondrial localization of human mitochondrial complex I accessory subunit NDUFB7. (PMID:38151566)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ndufb7 | ENSDARG00000033789 |
| mus_musculus | Ndufb7 | ENSMUSG00000033938 |
| rattus_norvegicus | Ndufb7 | ENSRNOG00000028717 |
| drosophila_melanogaster | ND-B18 | FBGN0030605 |
| caenorhabditis_elegans | ndub-7 | WBGENE00008414 |
Protein
Protein identifiers
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 — P17568 (reviewed: P17568)
Alternative names: Cell adhesion protein SQM1, Complex I-B18, NADH-ubiquinone oxidoreductase B18 subunit
All UniProt accessions (2): P17568, M0R3B8
UniProt curated annotations — full annotation on UniProt →
Function. Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
Subunit / interactions. Complex I is composed of 45 different subunits.
Subcellular location. Mitochondrion inner membrane. Mitochondrion intermembrane space.
Disease relevance. Mitochondrial complex I deficiency, nuclear type 39 (MC1DN39) [MIM:620135] A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN39 is an autosomal recessive form characterized by intrauterine growth retardation, anemia, and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. Contains two C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds.
Similarity. Belongs to the complex I NDUFB7 subunit family.
RefSeq proteins (1): NP_004137* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008698 | NDUB7 | Family |
Pfam: PF05676
UniProt features (11 total): short sequence motif 2, disulfide bond 2, initiator methionine 1, chain 1, sequence variant 1, domain 1, region of interest 1, modified residue 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9I4I | ELECTRON MICROSCOPY | 2.63 |
| 9TI4 | ELECTRON MICROSCOPY | 2.66 |
| 9CWT | ELECTRON MICROSCOPY | 3.44 |
| 5XTC | ELECTRON MICROSCOPY | 3.7 |
| 5XTD | ELECTRON MICROSCOPY | 3.7 |
| 5XTH | ELECTRON MICROSCOPY | 3.9 |
| 5XTI | ELECTRON MICROSCOPY | 17.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P17568-F1 | 88.98 | 0.73 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 73, 2
Disulfide bonds (2): 59–90, 69–80
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-611105 | Respiratory electron transport |
| R-HSA-6799198 | Complex I biogenesis |
| R-HSA-1428517 | Aerobic respiration and respiratory electron transport |
| R-HSA-1430728 | Metabolism |
MSigDB gene sets: 254 (showing top):
MODULE_93, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MODULE_151, MODULE_77, ENK_UV_RESPONSE_KERATINOCYTE_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, MODULE_308, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GALE_APL_WITH_FLT3_MUTATED_DN
GO Biological Process (4): mitochondrial electron transport, NADH to ubiquinone (GO:0006120), aerobic respiration (GO:0009060), proton motive force-driven mitochondrial ATP synthesis (GO:0042776), proton transmembrane transport (GO:1902600)
GO Molecular Function (2): NADH dehydrogenase (ubiquinone) activity (GO:0008137), protein binding (GO:0005515)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial intermembrane space (GO:0005758), respiratory chain complex I (GO:0045271), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Aerobic respiration and respiratory electron transport | 1 |
| Respiratory electron transport | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| aerobic electron transport chain | 1 |
| mitochondrial ATP synthesis coupled electron transport | 1 |
| cellular respiration | 1 |
| mitochondrion | 1 |
| oxidative phosphorylation | 1 |
| proton motive force-driven ATP synthesis | 1 |
| monoatomic cation transmembrane transport | 1 |
| NADH dehydrogenase activity | 1 |
| electron transfer activity | 1 |
| proton transmembrane transporter activity | 1 |
| oxidoreduction-driven active transmembrane transporter activity | 1 |
| oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor | 1 |
| active monoatomic ion transmembrane transporter activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrial envelope | 1 |
| organelle envelope lumen | 1 |
| NADH dehydrogenase complex | 1 |
| respiratory chain complex | 1 |
| transmembrane transporter complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
3372 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NDUFB7 | NDUFB3 | O43676 | 945 |
| NDUFB7 | NDUFA2 | O43678 | 940 |
| NDUFB7 | NDUFB8 | O95169 | 852 |
| NDUFB7 | NDUFB2 | O95178 | 829 |
| NDUFB7 | NDUFB10 | O96000 | 828 |
| NDUFB7 | NDUFB9 | Q9Y6M9 | 828 |
| NDUFB7 | NDUFV1 | P49821 | 820 |
| NDUFB7 | NDUFA8 | P51970 | 807 |
| NDUFB7 | NDUFB5 | O43674 | 803 |
| NDUFB7 | UQCRH | P07919 | 799 |
| NDUFB7 | NDUFAB1 | O14561 | 787 |
| NDUFB7 | NDUFS5 | O43920 | 787 |
| NDUFB7 | NDUFS8 | O00217 | 784 |
| NDUFB7 | NDUFA13 | Q9P0J0 | 783 |
| NDUFB7 | NDUFS6 | O75380 | 778 |
IntAct
185 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| NDUFS6 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFB5 | NDUFB3 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFS7 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFA9 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.640 |
| CHCHD4 | SSNA1 | psi-mi:“MI:0914”(association) | 0.640 |
| CLCNKA | NDUFB7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF417 | NDUFB7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TFAP4 | NDUFB7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF330 | NDUFB7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHIC2 | NDUFB7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDCA7L | NDUFB7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RECK | NDUFB7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NFKBID | NDUFB7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM90A1 | NDUFB7 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (151): NDUFB7 (Affinity Capture-MS), ATP5F1 (Co-fractionation), ATP6V0D1 (Co-fractionation), COX4I1 (Co-fractionation), NDUFA10 (Co-fractionation), NDUFB7 (Co-fractionation), NDUFB7 (Co-fractionation), NDUFB9 (Co-fractionation), PHB2 (Co-fractionation), UQCRC2 (Co-fractionation), NDUFB7 (Affinity Capture-MS), NDUFB7 (Affinity Capture-MS), NDUFB7 (Affinity Capture-MS), NDUFB7 (Affinity Capture-MS), NDUFB7 (Affinity Capture-MS)
ESM2 similar proteins: A2BD89, A6ZZI5, B5RTE0, C4YIM0, C5DT65, C5E268, O42921, O43920, O60200, O94581, P0CB87, P0CB88, P0CM70, P0CM71, P17568, P36064, P90789, Q01519, Q02373, Q02379, Q02772, Q0MQE2, Q0MQE3, Q0MQE4, Q0MQH3, Q0MQH4, Q0P3X7, Q0UWF1, Q17Q91, Q1HPL8, Q1K8U2, Q208S3, Q28GG4, Q2M2S5, Q2TAP8, Q3E7A4, Q4R3M6, Q6C4R1, Q756Q5, Q7S4H6
Diamond homologs: P17568, P90789, Q02368, Q0MQE2, Q0MQE3, Q0MQE4, Q54V61, Q9CR61, Q9SKC9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NDUFB7 | “form complex” | “NADH-ubiquinone oxidoreductase-Mitochondrial respiratory chain complex I” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 92 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Complex I biogenesis | 19 | 52.4× | 2e-26 |
| Respiratory electron transport | 21 | 33.3× | 3e-25 |
| Aerobic respiration and respiratory electron transport | 20 | 29.5× | 5e-23 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial electron transport, NADH to ubiquinone | 17 | 78.2× | 9e-27 |
| proton motive force-driven mitochondrial ATP synthesis | 19 | 64.1× | 1e-27 |
| aerobic respiration | 19 | 60.4× | 2e-27 |
| mitochondrial respiratory chain complex I assembly | 8 | 42.2× | 1e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 21 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 997769 | NM_004146.6(NDUFB7):c.113-10C>G | Likely pathogenic |
SpliceAI
435 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:14566261:CATAG:C | acceptor_gain | 1.0000 |
| 19:14566262:ATAG:A | acceptor_gain | 1.0000 |
| 19:14566263:TAG:T | acceptor_gain | 1.0000 |
| 19:14566264:AG:A | acceptor_gain | 1.0000 |
| 19:14566266:C:CA | acceptor_loss | 1.0000 |
| 19:14566266:C:CC | acceptor_gain | 1.0000 |
| 19:14566759:GCTCA:G | donor_loss | 1.0000 |
| 19:14566760:CTCAC:C | donor_loss | 1.0000 |
| 19:14566761:TCA:T | donor_loss | 1.0000 |
| 19:14566762:CA:C | donor_loss | 1.0000 |
| 19:14566763:A:AC | donor_gain | 1.0000 |
| 19:14566763:ACT:A | donor_gain | 1.0000 |
| 19:14566764:C:CT | donor_gain | 1.0000 |
| 19:14566764:CT:C | donor_gain | 1.0000 |
| 19:14566764:CTC:C | donor_gain | 1.0000 |
| 19:14566764:CTCG:C | donor_gain | 1.0000 |
| 19:14566929:CATCT:C | acceptor_gain | 1.0000 |
| 19:14566930:ATCT:A | acceptor_gain | 1.0000 |
| 19:14566934:C:CC | acceptor_gain | 1.0000 |
| 19:14571877:A:AC | donor_gain | 1.0000 |
| 19:14571878:C:CC | donor_gain | 1.0000 |
| 19:14571888:CCGCG:C | donor_gain | 1.0000 |
| 19:14571894:T:A | donor_gain | 1.0000 |
| 19:14566932:CT:C | acceptor_gain | 0.9900 |
| 19:14566934:CTGCA:C | acceptor_loss | 0.9900 |
| 19:14571857:C:CA | donor_gain | 0.9900 |
| 19:14571883:CCTCA:C | donor_loss | 0.9900 |
| 19:14571884:CTCAC:C | donor_loss | 0.9900 |
| 19:14571885:TCA:T | donor_loss | 0.9900 |
| 19:14571886:CA:C | donor_loss | 0.9900 |
AlphaMissense
898 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:14566870:C:G | C59S | 0.990 |
| 19:14566870:C:T | C59Y | 0.990 |
| 19:14566871:A:T | C59S | 0.990 |
| 19:14566241:A:C | F102L | 0.988 |
| 19:14566241:A:T | F102L | 0.988 |
| 19:14566243:A:G | F102L | 0.988 |
| 19:14566840:C:G | C69S | 0.988 |
| 19:14566841:A:T | C69S | 0.988 |
| 19:14566777:C:T | C90Y | 0.987 |
| 19:14566869:G:C | C59W | 0.985 |
| 19:14566870:C:A | C59F | 0.985 |
| 19:14566230:C:G | R106P | 0.984 |
| 19:14566777:C:G | C90S | 0.984 |
| 19:14566778:A:T | C90S | 0.984 |
| 19:14566247:C:A | K100N | 0.983 |
| 19:14566247:C:G | K100N | 0.983 |
| 19:14566807:C:G | C80S | 0.982 |
| 19:14566808:A:T | C80S | 0.982 |
| 19:14566875:G:C | D57E | 0.982 |
| 19:14566875:G:T | D57E | 0.982 |
| 19:14566867:G:T | A60D | 0.981 |
| 19:14566871:A:G | C59R | 0.980 |
| 19:14566777:C:A | C90F | 0.979 |
| 19:14566807:C:T | C80Y | 0.979 |
| 19:14566785:C:A | W87C | 0.978 |
| 19:14566785:C:G | W87C | 0.978 |
| 19:14566876:T:A | D57V | 0.978 |
| 19:14566224:A:G | L108P | 0.977 |
| 19:14566924:G:T | A41D | 0.976 |
| 19:14566226:C:A | R107S | 0.975 |
dbSNP variants (sampled 300 via entrez): RS1000068699 (19:14567207 G>A), RS1000190046 (19:14572114 C>T), RS1000242267 (19:14572538 C>T), RS1000560003 (19:14568341 G>A,C), RS1000799953 (19:14568575 G>T), RS1001458783 (19:14573396 G>A), RS1001474696 (19:14568372 C>G,T), RS1001582747 (19:14566628 G>A,C), RS1001769221 (19:14573787 G>A,T), RS1001822836 (19:14569237 A>G), RS1002372327 (19:14574021 C>A,T), RS1002652537 (19:14568031 G>A,C), RS1002853309 (19:14565734 T>C), RS1002984459 (19:14570451 C>T), RS1003285293 (19:14570571 A>C,G,T)
Disease associations
OMIM: gene MIM:603842 | disease phenotypes: MIM:620135
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| mitochondrial complex I deficiency, nuclear type 39 | Moderate | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| mitochondrial disease | Limited | AR |
Mondo (1): mitochondrial complex I deficiency, nuclear type 39 (MONDO:0859320)
Orphanet (1): Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes (Orphanet:309136)
HPO phenotypes
17 total (17 of 17 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001518 | Small for gestational age |
| HP:0001562 | Oligohydramnios |
| HP:0001631 | Atrial septal defect |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001640 | Cardiomegaly |
| HP:0001903 | Anemia |
| HP:0003128 | Lactic acidosis |
| HP:0006989 | Dysplastic corpus callosum |
| HP:0011682 | Perimembranous ventricular septal defect |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0012707 | Elevated brain lactate level by MRS |
| HP:0012708 | Reduced brain N-acetyl aspartate level by MRS |
| HP:0034198 | Second trimester onset |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST012490_68 | Femur bone mineral density x serum urate levels interaction | 7.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL2357 (SINGLE PROTEIN), CHEMBL2363065 (PROTEIN COMPLEX)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
10 potent at pChembl≥5 of 20 total, top 10 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.06 | IC50 | 870 | nM | R-(+)-MARMIN-6’-UNDECANOATE |
| 6.04 | IC50 | 920 | nM | R-(+)-MARMIN-6’-LINOLEATE |
| 5.63 | IC50 | 2350 | nM | R-(+)-MARMIN-6’-LINOLEATE |
| 5.51 | IC50 | 3080 | nM | R-(+)-MARMIN-6’-OCTANOATE |
| 5.43 | IC50 | 3670 | nM | R-(+)-MARMIN-6’-UNDECANOATE |
| 5.43 | IC50 | 3710 | nM | R-(+)-MARMIN-6’-OCTANOATE |
| 5.31 | IC50 | 4900 | nM | (+)-9’-ISOVALEROXYLARICIRESINOL |
| 5.15 | Kd | 7124 | nM | CHEMBL5653589 |
| 5.13 | ED50 | 7411 | nM | CHEMBL5653589 |
| 5.04 | IC50 | 9100 | nM | (+)-9’-ISOVALEROXYLARICIRESINOL |
PubChem BioAssay actives
9 with measured affinity, of 30 total; 5 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| [(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] undecanoate | 739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay | ic50 | 0.8700 | uM |
| [(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] (9Z,12Z)-octadeca-9,12-dienoate | 739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay | ic50 | 0.9200 | uM |
| [(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] octanoate | 739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay | ic50 | 3.0800 | uM |
| [(2S,3R,4R)-2-(4-hydroxy-3-methoxyphenyl)-4-[(4-hydroxy-3-methoxyphenyl)methyl]oxolan-3-yl]methyl 3-methylbutanoate | 739269: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1,10-phenanthroline-induced HIF1 activation incubated for 30 mins prior to 1,10-phenanthroline-challenge measured after 16 hrs by luciferase reporter assay | ic50 | 4.9000 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148848: Binding affinity to human NDUFB7 incubated for 45 mins by Kinobead based pull down assay | kd | 7.1238 | uM |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, affects cotreatment, increases abundance | 3 |
| Acetaminophen | affects cotreatment, decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| bisphenol A | affects expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| ochratoxin A | increases expression | 1 |
| tris(chloroethyl)phosphate | increases abundance, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| corosolic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| mono(2-ethyl-5-hydroxyhexyl) phthalate | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol S | affects expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
ChEMBL screening assays
5 unique, capped per target: 5 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651890 | Binding | Binding affinity to human NDUFB7 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9L3 | Ubigene HEK293 NDUFB7 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: mitochondrial complex I deficiency, nuclear type 39, mitochondrial disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): mitochondrial complex I deficiency, nuclear type 39