NDUFB4
gene geneOn this page
Also known as B15
Summary
NDUFB4 (NADH:ubiquinone oxidoreductase subunit B4, HGNC:7699) is a protein-coding gene on chromosome 3q13.33, encoding NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 (O95168). 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: 54.0% of cell lines).
This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone.
Source: NCBI Gene 4710 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 12 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 54.0% of screened cell lines
- MANE Select transcript:
NM_004547
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7699 |
| Approved symbol | NDUFB4 |
| Name | NADH:ubiquinone oxidoreductase subunit B4 |
| Location | 3q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | B15 |
| Ensembl gene | ENSG00000065518 |
| Ensembl biotype | protein_coding |
| OMIM | 603840 |
| Entrez | 4710 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000184266, ENST00000461682, ENST00000485064, ENST00000491335, ENST00000492739, ENST00000496588, ENST00000852496, ENST00000925563, ENST00000925564, ENST00000925565
RefSeq mRNA: 2 — MANE Select: NM_004547
NM_001168331, NM_004547
CCDS: CCDS2999, CCDS54630
Canonical transcript exons
ENST00000184266 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001732823 | 120596336 | 120596539 |
| ENSE00001859930 | 120602208 | 120602507 |
| ENSE00003554169 | 120601111 | 120601257 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 99.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 183.3027 / max 1420.8804, expressed in 1826 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 38175 | 168.9649 | 1826 |
| 38173 | 11.7504 | 1782 |
| 38174 | 2.5875 | 1413 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 99.88 | gold quality |
| biceps brachii | UBERON:0001507 | 99.72 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.65 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.63 | gold quality |
| body of tongue | UBERON:0011876 | 99.62 | gold quality |
| adult organism | UBERON:0007023 | 99.61 | gold quality |
| diaphragm | UBERON:0001103 | 99.58 | gold quality |
| triceps brachii | UBERON:0001509 | 99.56 | gold quality |
| vena cava | UBERON:0004087 | 99.51 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.49 | gold quality |
| cerebellar vermis | UBERON:0004720 | 99.48 | gold quality |
| pons | UBERON:0000988 | 99.47 | gold quality |
| gluteal muscle | UBERON:0002000 | 99.41 | gold quality |
| penis | UBERON:0000989 | 99.40 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.40 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 99.39 | gold quality |
| renal medulla | UBERON:0000362 | 99.38 | gold quality |
| tongue | UBERON:0001723 | 99.37 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.36 | gold quality |
| adrenal cortex | UBERON:0001235 | 99.35 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.33 | gold quality |
| cauda epididymis | UBERON:0004360 | 99.33 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.32 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.31 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.29 | gold quality |
| superior surface of tongue | UBERON:0007371 | 99.29 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.28 | gold quality |
| type B pancreatic cell | CL:0000169 | 99.27 | gold quality |
| caput epididymis | UBERON:0004358 | 99.24 | gold quality |
| thymus | UBERON:0002370 | 99.23 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 18.55 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
11 targeting NDUFB4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-609 | 99.82 | 64.26 | 505 |
| HSA-MIR-8084 | 99.73 | 69.57 | 1760 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-633 | 98.35 | 69.45 | 1167 |
| HSA-MIR-4694-5P | 94.62 | 65.39 | 532 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 54.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- Accessory subunit NDUFB4 participates in mitochondrial complex I supercomplex formation. (PMID:38211818)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ndufb4 | ENSDARG00000019332 |
| mus_musculus | Ndufb4 | ENSMUSG00000022820 |
| rattus_norvegicus | Ndufb4 | ENSRNOG00000002721 |
| rattus_norvegicus | Ndufb4l4 | ENSRNOG00000034182 |
| rattus_norvegicus | Ndufb4l1 | ENSRNOG00000034289 |
| rattus_norvegicus | LOC120094308 | ENSRNOG00000065044 |
| rattus_norvegicus | Ndufb4l3 | ENSRNOG00000088815 |
| drosophila_melanogaster | ND-B15 | FBGN0033961 |
| caenorhabditis_elegans | nuo-6 | WBGENE00012166 |
Protein
Protein identifiers
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 — O95168 (reviewed: O95168)
Alternative names: Complex I-B15, NADH-ubiquinone oxidoreductase B15 subunit
All UniProt accessions (3): O95168, C9JXQ9, F2Z3P9
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.
Similarity. Belongs to the complex I NDUFB4 subunit family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95168-1 | 1 | yes |
| O95168-2 | 2 |
RefSeq proteins (2): NP_001161803, NP_004538* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009866 | NADH_UbQ_OxRdtase_NDUFB4_su | Family |
Pfam: PF07225
UniProt features (6 total): modified residue 2, initiator methionine 1, chain 1, transmembrane region 1, splice variant 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-O95168-F1 | 94.56 | 0.90 |
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): 2, 26
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: 166 (showing top):
STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, 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, GOBP_ATP_BIOSYNTHETIC_PROCESS, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ELECTRON_TRANSPORT_CHAIN
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 (1): NADH dehydrogenase (ubiquinone) activity (GO:0008137)
GO Cellular Component (5): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), 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 |
|---|---|
| cellular anatomical structure | 2 |
| 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 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| NADH dehydrogenase complex | 1 |
| respiratory chain complex | 1 |
| transmembrane transporter complex | 1 |
Protein interactions and networks
STRING
1536 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NDUFB4 | NDUFB10 | O96000 | 980 |
| NDUFB4 | NDUFB2 | O95178 | 973 |
| NDUFB4 | NDUFA10 | O95299 | 949 |
| NDUFB4 | NDUFA7 | O95182 | 928 |
| NDUFB4 | NDUFA2 | O43678 | 898 |
| NDUFB4 | NDUFB6 | O95139 | 889 |
| NDUFB4 | NDUFB5 | O43674 | 884 |
| NDUFB4 | NDUFB11 | Q9NX14 | 876 |
| NDUFB4 | NDUFB9 | Q9Y6M9 | 869 |
| NDUFB4 | NDUFB1 | O75438 | 845 |
| NDUFB4 | UQCRQ | O14949 | 839 |
| NDUFB4 | NDUFA6 | P56556 | 833 |
| NDUFB4 | MT-ND4 | P03905 | 785 |
| NDUFB4 | NDUFB7 | P17568 | 746 |
| NDUFB4 | NDUFB3 | O43676 | 741 |
IntAct
75 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 |
| ENPP6 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFA9 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFS5 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFA9 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| TIMMDC1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFV2 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFA8 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFS5 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJC30 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| FUT1 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFA12 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFS4 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFA11 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFV1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFA6 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| MME | psi-mi:“MI:0914”(association) | 0.350 | |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | psi-mi:“MI:0914”(association) | 0.350 | |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (140): NDUFB4 (Affinity Capture-MS), NDUFB4 (Affinity Capture-MS), NDUFB4 (Affinity Capture-MS), PHB (Co-fractionation), UQCRFS1 (Co-fractionation), VDAC1 (Co-fractionation), NDUFB4 (Proximity Label-MS), NDUFB4 (Affinity Capture-MS), NDUFB4 (Affinity Capture-MS), NDUFB4 (Affinity Capture-MS), NDUFB4 (Affinity Capture-MS), NDUFB4 (Affinity Capture-MS), NDUFB4 (Affinity Capture-MS), NDUFB4 (Affinity Capture-MS), NDUFB4 (Affinity Capture-MS)
ESM2 similar proteins: A1CMM2, A1DLB6, A2R065, A3LQD9, A4RC22, A5DM93, A5DTG8, A6R620, A6SAY2, A6ZUI6, A7EJE5, A7TFK6, A7TQM5, B3DFP2, B3LI56, C4R127, C5DIL2, C5E1G5, C5E368, C6Y4C1, C7GT24, C8Z970, O95168, P0CB71, P0CB72, P37267, P38958, P48305, Q0CGN5, Q0MQD4, Q0MQD5, Q0ULB7, Q1DHX9, Q2H4Y0, Q2KP58, Q2UE23, Q59QC6, Q5ACH7, Q5ASG4, Q6BI17
Diamond homologs: O95168, P0CB71, P0CB72, P48305, P48306, Q0MQD4, Q0MQD5, Q9CQC7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NDUFB4 | “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 63 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 | 68.4× | 3e-29 |
| Respiratory electron transport | 20 | 41.4× | 2e-26 |
| Aerobic respiration and respiratory electron transport | 18 | 34.6× | 4e-22 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial electron transport, NADH to ubiquinone | 16 | 100.7× | 2e-26 |
| proton motive force-driven mitochondrial ATP synthesis | 17 | 78.5× | 2e-26 |
| aerobic respiration | 17 | 73.9× | 4e-26 |
| mitochondrial respiratory chain complex I assembly | 7 | 50.5× | 8e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
12 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
286 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:120596538:TC:T | donor_gain | 1.0000 |
| 3:120596540:G:GG | donor_gain | 1.0000 |
| 3:120602207:GGATA:G | acceptor_gain | 1.0000 |
| 3:120596494:A:T | donor_gain | 0.9900 |
| 3:120596509:G:GG | donor_gain | 0.9900 |
| 3:120596535:TCATC:T | donor_gain | 0.9900 |
| 3:120596537:ATC:A | donor_gain | 0.9900 |
| 3:120596537:ATCG:A | donor_loss | 0.9900 |
| 3:120596538:TCG:T | donor_loss | 0.9900 |
| 3:120596539:CGTGA:C | donor_loss | 0.9900 |
| 3:120596540:GTGA:G | donor_loss | 0.9900 |
| 3:120596541:T:TC | donor_loss | 0.9900 |
| 3:120596542:GA:G | donor_loss | 0.9900 |
| 3:120596543:AG:A | donor_loss | 0.9900 |
| 3:120602205:CA:C | acceptor_loss | 0.9900 |
| 3:120602206:A:AC | acceptor_loss | 0.9900 |
| 3:120602206:A:AG | acceptor_gain | 0.9900 |
| 3:120602206:AG:A | acceptor_gain | 0.9900 |
| 3:120602207:G:GG | acceptor_gain | 0.9900 |
| 3:120602207:G:GT | acceptor_loss | 0.9900 |
| 3:120602207:GG:G | acceptor_gain | 0.9900 |
| 3:120602207:GGAT:G | acceptor_gain | 0.9900 |
| 3:120596508:A:AG | donor_gain | 0.9800 |
| 3:120596536:CATC:C | donor_gain | 0.9800 |
| 3:120596544:G:C | donor_loss | 0.9800 |
| 3:120597691:A:AG | donor_gain | 0.9800 |
| 3:120601106:TTTA:T | acceptor_loss | 0.9800 |
| 3:120601107:TTA:T | acceptor_loss | 0.9800 |
| 3:120601108:TAG:T | acceptor_loss | 0.9800 |
| 3:120601256:GG:G | donor_gain | 0.9800 |
AlphaMissense
818 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:120596491:A:C | K44N | 0.941 |
| 3:120596491:A:T | K44N | 0.941 |
| 3:120596490:A:T | K44I | 0.924 |
| 3:120601217:G:A | G96E | 0.916 |
| 3:120601132:T:A | W68R | 0.908 |
| 3:120601132:T:C | W68R | 0.908 |
| 3:120601168:T:C | F80L | 0.908 |
| 3:120601170:C:A | F80L | 0.908 |
| 3:120601170:C:G | F80L | 0.908 |
| 3:120601216:G:A | G96R | 0.905 |
| 3:120601216:G:C | G96R | 0.905 |
| 3:120601134:G:C | W68C | 0.900 |
| 3:120601134:G:T | W68C | 0.900 |
| 3:120601211:G:A | G94E | 0.874 |
| 3:120596480:G:C | A41P | 0.861 |
| 3:120601257:G:C | R109S | 0.854 |
| 3:120601257:G:T | R109S | 0.854 |
| 3:120601198:G:A | G90R | 0.850 |
| 3:120601198:G:C | G90R | 0.850 |
| 3:120602236:G:T | G119V | 0.842 |
| 3:120601202:C:A | A91D | 0.839 |
| 3:120596490:A:C | K44T | 0.834 |
| 3:120596502:T:C | L48P | 0.833 |
| 3:120601185:A:C | K85N | 0.825 |
| 3:120601185:A:T | K85N | 0.825 |
| 3:120601223:T:A | L98H | 0.821 |
| 3:120601223:T:G | L98R | 0.819 |
| 3:120601248:A:C | K106N | 0.819 |
| 3:120601248:A:T | K106N | 0.819 |
| 3:120596479:A:C | R40S | 0.815 |
dbSNP variants (sampled 300 via entrez): RS1000043059 (3:120596963 A>G), RS1000521611 (3:120597239 C>T), RS1000927803 (3:120601571 C>G), RS1001026040 (3:120601992 C>T), RS1001960892 (3:120598584 G>A), RS1002013430 (3:120598828 A>C), RS1002789492 (3:120595424 G>A), RS1003020682 (3:120595294 C>T), RS1003148010 (3:120595038 C>A,T), RS1003582968 (3:120599710 A>G), RS1003915426 (3:120598947 G>A,C), RS1004266195 (3:120598605 G>C), RS1005034555 (3:120600802 A>G), RS1005535799 (3:120600041 T>G), RS1005746578 (3:120594422 C>T)
Disease associations
OMIM: gene MIM:603840 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2363065 (PROTEIN COMPLEX)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
8 potent at pChembl≥5 of 18 total, top 8 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 |
| 5.04 | IC50 | 9100 | nM | (+)-9’-ISOVALEROXYLARICIRESINOL |
PubChem BioAssay actives
8 with measured affinity, of 28 total; 4 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 |
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, increases expression | 4 |
| Acetaminophen | affects cotreatment, decreases expression | 2 |
| Valproic Acid | decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects expression, affects response to substance | 1 |
| arsenite | increases reaction, affects binding | 1 |
| sodium arsenite | increases expression | 1 |
| OSW 1 | increases expression | 1 |
| Poly(amidoamine) | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Rotenone | increases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Tretinoin | increases expression | 1 |
| Vincristine | decreases expression | 1 |
| Cyclosporine | decreases methylation | 1 |
| Sodium Selenite | increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2353025 | Binding | Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation at 30 uM incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay | Semisynthetic studies identify mitochondria poisons from botanical dietary supplements–geranyloxycoumarins from Aegle marmelos. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.