UQCRH

Summary

UQCRH (ubiquinol-cytochrome c reductase hinge protein, HGNC:12590) is a protein-coding gene on chromosome 1p33, encoding Cytochrome b-c1 complex subunit 6, mitochondrial (P07919). Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

Enables ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrial inner membrane. Implicated in mitochondrial complex III deficiency.

Source: NCBI Gene 7388 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial complex III deficiency, nuclear type 11 (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 24 total — 1 pathogenic
• Phenotypes (HPO): 15
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_006004

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12590
Approved symbol	UQCRH
Name	ubiquinol-cytochrome c reductase hinge protein
Location	1p33
Locus type	gene with protein product
Status	Approved
Aliases	QCR6, UQCR8
Ensembl gene	ENSG00000173660
Ensembl biotype	protein_coding
OMIM	613844
Entrez	7388

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 15 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000311672, ENST00000460947, ENST00000486951, ENST00000489056, ENST00000496387, ENST00000851050, ENST00000866773, ENST00000866774, ENST00000911995, ENST00000911996, ENST00000911997, ENST00000911998, ENST00000911999, ENST00000912000, ENST00000912001, ENST00000949408, ENST00000949409, ENST00000949410, ENST00000949411

RefSeq mRNA: 3 — MANE Select: NM_006004 NM_001297565, NM_001297566, NM_006004

CCDS: CCDS30704

Canonical transcript exons

ENST00000311672 — 4 exons

Exon	Start	End
ENSE00001957839	46303698	46303820
ENSE00003539381	46310155	46310316
ENSE00003578919	46316552	46316776
ENSE00003728681	46309101	46309127

Expression profiles

Bgee: expression breadth ubiquitous, 150 present calls, max score 99.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 293.6809 / max 4294.2803, expressed in 1824 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2734	291.2181	1824
2733	2.4629	1150

Top tissues by expression

150 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	99.90	gold quality
heart left ventricle	UBERON:0002084	99.74	gold quality
apex of heart	UBERON:0002098	99.67	gold quality
right atrium auricular region	UBERON:0006631	99.64	gold quality
primary visual cortex	UBERON:0002436	99.63	gold quality
heart	UBERON:0000948	99.62	gold quality
superior frontal gyrus	UBERON:0002661	99.62	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.59	gold quality
prefrontal cortex	UBERON:0000451	99.58	gold quality
frontal cortex	UBERON:0001870	99.56	gold quality
frontal lobe	UBERON:0016525	99.56	gold quality
cerebellar cortex	UBERON:0002129	99.55	gold quality
cerebellar hemisphere	UBERON:0002245	99.55	gold quality
cerebellum	UBERON:0002037	99.54	gold quality
right frontal lobe	UBERON:0002810	99.54	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.54	gold quality
cerebral cortex	UBERON:0000956	99.53	gold quality
mucosa of transverse colon	UBERON:0004991	99.52	gold quality
anterior cingulate cortex	UBERON:0009835	99.52	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.52	gold quality
hypothalamus	UBERON:0001898	99.49	gold quality
rectum	UBERON:0001052	99.48	gold quality
nucleus accumbens	UBERON:0001882	99.47	gold quality
telencephalon	UBERON:0001893	99.47	gold quality
islet of Langerhans	UBERON:0000006	99.44	gold quality
adult mammalian kidney	UBERON:0000082	99.42	gold quality
brain	UBERON:0000955	99.42	gold quality
substantia nigra	UBERON:0002038	99.42	gold quality
thymus	UBERON:0002370	99.42	silver quality
monocyte	CL:0000576	99.41	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-GEOD-89232	yes	1389.14
E-MTAB-10042	yes	1250.98
E-MTAB-8410	yes	46.59
E-MTAB-9467	yes	35.09
E-MTAB-7316	yes	25.64
E-CURD-122	yes	19.40
E-HCAD-9	yes	17.50
E-MTAB-9221	yes	16.13
E-HCAD-10	yes	12.32
E-GEOD-135922	yes	11.27
E-HCAD-25	yes	9.76
E-MTAB-10018	no	4231.77
E-GEOD-125970	no	50.82
E-MTAB-8271	no	10.46
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting UQCRH, 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-651-3P	99.94	73.48	5177
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-935	98.82	69.36	1072
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-4731-3P	98.56	68.60	1860
HSA-MIR-4317	98.49	67.09	987
HSA-MIR-6819-5P	97.96	66.59	1071
HSA-MIR-6737-5P	97.75	66.54	1044
HSA-MIR-376C-3P	97.63	68.88	1263
HSA-MIR-6812-5P	97.56	65.39	1059
HSA-MIR-600	97.07	66.73	1259
HSA-MIR-5579-5P	96.32	68.54	730

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 6)

• These data provide preliminary evidence of the inactivation of UQCRH gene in cancer either by structural rearrangements or epigenetic mechanisms. (PMID:12881716)
• Results show that UQCRH is overexpressed in hepatocellular carcinoma. (PMID:28332314)
• UQCRH downregulation promotes Warburg effect in renal cell carcinoma cells. (PMID:32929120)
• Genome-wide analysis of DNA methylation identifies the apoptosis-related gene UQCRH as a tumor suppressor in renal cancer. (PMID:34133843)
• Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. (PMID:34750991)
• Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis. (PMID:38181234)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	uqcrh	ENSDARG00000059128
mus_musculus	Uqcrh	ENSMUSG00000063882
rattus_norvegicus	Uqcrh	ENSRNOG00000012550
drosophila_melanogaster	UQCR-11L	FBGN0050354
drosophila_melanogaster	UQCR-11	FBGN0260008

Paralogs (1): UQCRHL (ENSG00000233954)

Protein

Protein identifiers

Cytochrome b-c1 complex subunit 6, mitochondrial — P07919 (reviewed: P07919)

Alternative names: Complex III subunit 6, Complex III subunit VIII, Cytochrome c1 non-heme 11 kDa protein, Mitochondrial hinge protein, Ubiquinol-cytochrome c reductase complex 11 kDa protein

All UniProt accessions (3): P07919, A0A087WTF2, A0A087X2B9

UniProt curated annotations — full annotation on UniProt →

Function. Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c.

Subunit / interactions. Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), a multisubunit enzyme composed of 11 subunits. The complex is composed of 3 respiratory subunits cytochrome b, cytochrome c1 and Rieske protein UQCRFS1, 2 core protein subunits UQCRC1/QCR1 and UQCRC2/QCR2, and 6 low-molecular weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and subunit 9, the cleavage product of Rieske protein UQCRFS1. The complex exists as an obligatory dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and cytochrome c oxidase (complex IV, CIV), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)).

Subcellular location. Mitochondrion inner membrane.

Disease relevance. Mitochondrial complex III deficiency, nuclear type 11 (MC3DN11) [MIM:620137] A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN11 is an autosomal recessive form characterized by recurrent episodes of severe lactic acidosis, hyperammonemia, hypoglycemia, and encephalopathy. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the UQCRH/QCR6 family.

RefSeq proteins (3): NP_001284494, NP_001284495, NP_005995* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003422	Cyt_b-c1_6	Family
IPR023184	Ubol_cytC_Rdtase_hinge_dom	Domain
IPR036811	Ubol_cytC_Rdtase_hinge_dom_sf	Homologous_superfamily

Pfam: PF02320

UniProt features (15 total): helix 4, modified residue 2, disulfide bond 2, transit peptide 1, chain 1, turn 1, region of interest 1, compositionally biased region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9HZL	ELECTRON MICROSCOPY	2.52
9CG3	ELECTRON MICROSCOPY	2.96
5XTE	ELECTRON MICROSCOPY	3.4
5XTH	ELECTRON MICROSCOPY	3.9
5XTI	ELECTRON MICROSCOPY	17.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P07919-F1	87.91	0.69

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): 42, 85

Disulfide bonds (2): 37–81, 53–67

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-611105	Respiratory electron transport
R-HSA-9865881	Complex III assembly

MSigDB gene sets: 252 (showing top): CCAWYNNGAAR_UNKNOWN, MODULE_151, GCM_NPM1, MORF_UBE2I, MORF_HDAC1, HSIAO_HOUSEKEEPING_GENES, TGACCTY_ERR1_Q2, YY1_Q6, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_MITOCHONDRIAL_ELECTRON_TRANSPORT_UBIQUINOL_TO_CYTOCHROME_C, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_ELECTRON_TRANSPORT_CHAIN, MORF_BUB3, KEGG_HUNTINGTONS_DISEASE

GO Biological Process (5): oxidative phosphorylation (GO:0006119), mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122), aerobic respiration (GO:0009060), cellular respiration (GO:0045333), proton transmembrane transport (GO:1902600)

GO Molecular Function (2): quinol-cytochrome-c reductase activity (GO:0008121), protein binding (GO:0005515)

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), respiratory chain complex III (GO:0045275), respiratory chain complex (GO:0098803), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Aerobic respiration and respiratory electron transport	1
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
aerobic respiration	1
proton motive force-driven ATP synthesis	1
aerobic electron transport chain	1
mitochondrial ATP synthesis coupled electron transport	1
cellular respiration	1
energy derivation by oxidation of organic compounds	1
monoatomic cation transmembrane transport	1
electron transfer activity	1
proton transmembrane transporter activity	1
oxidoreduction-driven active transmembrane transporter activity	1
oxidoreductase activity, acting on diphenols and related substances as donors	1
active monoatomic ion transmembrane transporter activity	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
cytochrome complex	1
respiratory chain complex	1
transmembrane transporter complex	1
oxidoreductase complex	1
protein-containing complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1827 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UQCRH	UQCR10	Q9UDW1	947
UQCRH	UQCRB	P14927	905
UQCRH	UQCRC1	P31930	902
UQCRH	UQCRQ	O14949	884
UQCRH	CYC1	P08574	880
UQCRH	UQCR11	O14957	820
UQCRH	COX4I1	P13073	820
UQCRH	UQCRC2	P22695	800
UQCRH	NDUFB7	P17568	799
UQCRH	COX4I2	Q96KJ9	796
UQCRH	UQCRFS1	P47985	792
UQCRH	COX5A	P20674	711
UQCRH	NDUFB9	Q9Y6M9	690
UQCRH	MT-CYB	P00156	685
UQCRH	COX7A2	P14406	678

IntAct

99 interactions, top by confidence:

A	B	Type	Score
ARL8A	UQCRH	psi-mi:“MI:0915”(physical association)	0.720
UQCRH	ARL8A	psi-mi:“MI:0915”(physical association)	0.720
UQCRB	COX7A2L	psi-mi:“MI:0914”(association)	0.640
UQCRH	COX7A2L	psi-mi:“MI:0914”(association)	0.640
COQ5	COQ9	psi-mi:“MI:0914”(association)	0.590
ENTREP3	UQCRH	psi-mi:“MI:0915”(physical association)	0.560
UQCRH	RNF24	psi-mi:“MI:0915”(physical association)	0.560
UQCRH	ENTREP3	psi-mi:“MI:0915”(physical association)	0.560
RNF24	UQCRH	psi-mi:“MI:0915”(physical association)	0.560
UQCRH	NDFIP2	psi-mi:“MI:0915”(physical association)	0.560
PRRG1	UQCRH	psi-mi:“MI:0915”(physical association)	0.560
UQCRH	NDFIP1	psi-mi:“MI:0915”(physical association)	0.560
UQCRH	DCTN6	psi-mi:“MI:0914”(association)	0.530
FAM131B	AURKA	psi-mi:“MI:0914”(association)	0.530
ERBB3	SLC31A1	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
PBXIP1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
GSDME	SLC27A2	psi-mi:“MI:0914”(association)	0.530
PEX19	MYO1D	psi-mi:“MI:0914”(association)	0.530
SIRT3		psi-mi:“MI:0915”(physical association)	0.400
NPM1	UQCRH	psi-mi:“MI:0915”(physical association)	0.370
NDUFA12	NDUFS8	psi-mi:“MI:0914”(association)	0.350
OTUB1		psi-mi:“MI:0914”(association)	0.350
OTUB1	EPM2A	psi-mi:“MI:0914”(association)	0.350

BioGRID (165): FAM189B (Two-hybrid), RNF24 (Two-hybrid), ARL8A (Two-hybrid), UQCRH (Affinity Capture-MS), UQCRH (Affinity Capture-MS), NDUFS4 (Co-fractionation), UQCRH (Co-fractionation), UQCRH (Co-fractionation), UQCRH (Affinity Capture-MS), UQCRH (Affinity Capture-MS), COX7A2L (Affinity Capture-MS), DOCK11 (Affinity Capture-MS), UQCRB (Affinity Capture-MS), PEX19 (Affinity Capture-MS), ACTR10 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LP55, A0A1D8PJT8, A1L243, A1L3N6, A6H767, A9ULB4, P00126, P00429, P05067, P07919, P08592, P12023, P13805, P14854, P23025, P27088, P28656, P36233, P36378, P48504, P55209, P56277, P79307, P99028, Q0P451, Q0VBY0, Q15545, Q28CA1, Q28EB4, Q2HJG8, Q4R374, Q4R5A5, Q4U0Y4, Q53CG4, Q5IS80, Q5M9I5, Q5R4D4, Q5R7L9, Q5RCT0, Q64267

Diamond homologs: A0A096LP55, P00126, P07919, P48504, P99028, Q5M9I5, Q8SPH5, A0A1D8PJT8, Q0WWE3, Q1ZXP3, Q9SJV7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
UQCRH	“form complex”	“CoQ-cytochrome c reductase-Mitochondrial respiratory chain complex III”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 110 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
Respiratory electron transport	9	11.0×	6e-05

GO biological processes:

GO term	Partners	Fold	FDR
aerobic respiration	6	15.5×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

24 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	13
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1801224	NM_006004.4(UQCRH):c.55-527_243+48del	Pathogenic

SpliceAI

922 predictions. Top by Δscore:

Variant	Effect	Δscore
1:46303817:GGAG:G	donor_gain	1.0000
1:46303818:GAG:G	donor_gain	1.0000
1:46303818:GAGG:G	donor_gain	1.0000
1:46303819:AGGT:A	donor_loss	1.0000
1:46303821:GT:G	donor_loss	1.0000
1:46303822:T:G	donor_loss	1.0000
1:46310141:T:A	acceptor_gain	1.0000
1:46310148:A:AG	acceptor_gain	1.0000
1:46310149:C:G	acceptor_gain	1.0000
1:46310150:A:AG	acceptor_gain	1.0000
1:46310150:ATCAG:A	acceptor_gain	1.0000
1:46310151:T:G	acceptor_gain	1.0000
1:46310152:CAGG:C	acceptor_loss	1.0000
1:46310152:CAGGA:C	acceptor_gain	1.0000
1:46310153:A:AG	acceptor_gain	1.0000
1:46310153:AG:A	acceptor_gain	1.0000
1:46310154:G:GA	acceptor_gain	1.0000
1:46310154:GG:G	acceptor_gain	1.0000
1:46310154:GGA:G	acceptor_gain	1.0000
1:46310154:GGAT:G	acceptor_gain	1.0000
1:46310154:GGATC:G	acceptor_gain	1.0000
1:46310278:G:GT	donor_gain	1.0000
1:46310312:ATTGC:A	donor_gain	1.0000
1:46310313:TTGC:T	donor_gain	1.0000
1:46310314:TGC:T	donor_gain	1.0000
1:46310314:TGCGT:T	donor_loss	1.0000
1:46310315:GC:G	donor_gain	1.0000
1:46310315:GCG:G	donor_gain	1.0000
1:46310315:GCGTA:G	donor_loss	1.0000
1:46310316:CG:C	donor_loss	1.0000

AlphaMissense

599 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:46310230:T:A	C53S	0.993
1:46310231:G:C	C53S	0.993
1:46310272:T:A	C67S	0.993
1:46310273:G:C	C67S	0.993
1:46310231:G:A	C53Y	0.991
1:46310273:G:A	C67Y	0.991
1:46310274:C:G	C67W	0.990
1:46310272:T:C	C67R	0.988
1:46310308:G:C	D79H	0.988
1:46310230:T:C	C53R	0.987
1:46310297:T:C	L75S	0.986
1:46310309:A:T	D79V	0.986
1:46310231:G:T	C53F	0.985
1:46310273:G:T	C67F	0.985
1:46310182:T:A	C37S	0.984
1:46310183:G:C	C37S	0.984
1:46310294:T:C	F74S	0.984
1:46310232:T:G	C53W	0.983
1:46310302:G:C	A77P	0.983
1:46310309:A:C	D79A	0.983
1:46310293:T:C	F74L	0.982
1:46310295:C:A	F74L	0.982
1:46310295:C:G	F74L	0.982
1:46310175:A:C	R34S	0.981
1:46310175:A:T	R34S	0.981
1:46310182:T:C	C37R	0.981
1:46310183:G:A	C37Y	0.981
1:46310285:T:C	L71P	0.981
1:46310314:T:A	C81S	0.980
1:46310315:G:C	C81S	0.980

dbSNP variants (sampled 300 via entrez): RS1000106401 (1:46302431 C>A,G,T), RS1000258252 (1:46308499 G>A), RS1000709907 (1:46313514 A>T), RS1000833304 (1:46307535 T>A,G), RS1000882462 (1:46307195 C>T), RS1001004742 (1:46302306 C>G,T), RS1001034237 (1:46302015 A>C,G), RS1001162734 (1:46303267 G>A,T), RS1001309464 (1:46308886 G>A,C,T), RS1001393337 (1:46314993 C>T), RS1001580919 (1:46302619 G>A,C,T), RS1001821351 (1:46314770 T>C), RS1001822518 (1:46314090 G>GC), RS1001832453 (1:46313833 C>T), RS1002061056 (1:46307712 G>A,C)

Disease associations

OMIM: gene MIM:613844 | disease phenotypes: MIM:620137

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial complex III deficiency, nuclear type 11	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 III deficiency, nuclear type 11 (MONDO:0859321)

Orphanet (0):

HPO phenotypes

15 total (15 of 15 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001289	Confusion
HP:0001733	Pancreatitis
HP:0001942	Metabolic acidosis
HP:0001943	Hypoglycemia
HP:0001945	Fever
HP:0001987	Hyperammonemia
HP:0002013	Vomiting
HP:0002014	Diarrhea
HP:0002027	Abdominal pain
HP:0002151	Increased circulating lactate concentration
HP:0002788	Recurrent upper respiratory tract infections
HP:0008551	Microtia
HP:0011463	Childhood onset
HP:0011924	Decreased activity of mitochondrial complex III

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST005951_37	Body mass index	8.000000e-10
GCST012227_1399	Hip circumference adjusted for BMI	1.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Copper	affects cotreatment, decreases expression, increases abundance, affects binding	2
Doxorubicin	increases expression, decreases expression	2
dicrotophos	decreases expression	1
bisphenol A	affects expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
zinc chromate	increases abundance, increases expression	1
ochratoxin A	increases expression	1
acipimox	increases expression	1
beta-methylcholine	affects expression	1
arsenic trichloride	decreases expression, increases abundance, affects cotreatment	1
chromium hexavalent ion	increases abundance, increases expression	1
CD 437	decreases expression	1
chloropicrin	affects expression	1
K 7174	decreases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, decreases expression, increases expression	1
Zoledronic Acid	decreases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance, affects cotreatment	1
Atrazine	decreases expression	1
Bilirubin	decreases expression	1
Cadmium	increases abundance, increases expression	1
Disulfiram	affects binding, decreases expression	1
Fluorouracil	affects expression	1
Hydrogen Peroxide	affects expression	1
Isoniazid	increases expression	1
Ivermectin	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.