UQCC2

Summary

UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2, HGNC:21237) is a protein-coding gene on chromosome 6p21.31, encoding Ubiquinol-cytochrome c reductase complex assembly factor 2 (Q9BRT2). Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). It is a selective cancer dependency (DepMap: 15.1% of cell lines).

This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity.

Source: NCBI Gene 84300 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial complex III deficiency nuclear type 7 (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 6
• Clinical variants (ClinVar): 84 total — 2 pathogenic
• Phenotypes (HPO): 32
• Cancer dependency (DepMap): dependent in 15.1% of screened cell lines
• MANE Select transcript: NM_032340

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21237
Approved symbol	UQCC2
Name	ubiquinol-cytochrome c reductase complex assembly factor 2
Location	6p21.31
Locus type	gene with protein product
Status	Approved
Aliases	MGC14833, bA6B20.2, M19, Cbp6
Ensembl gene	ENSG00000137288
Ensembl biotype	protein_coding
OMIM	614461
Entrez	84300

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 11 protein_coding, 1 retained_intron

ENST00000374214, ENST00000374231, ENST00000606961, ENST00000607484, ENST00000887985, ENST00000887986, ENST00000931722, ENST00000931723, ENST00000931724, ENST00000931725, ENST00000966148, ENST00000966149

RefSeq mRNA: 1 — MANE Select: NM_032340 NM_032340

CCDS: CCDS4784

Canonical transcript exons

ENST00000607484 — 4 exons

Exon	Start	End
ENSE00000738899	33701346	33701420
ENSE00000738900	33700444	33700513
ENSE00003698678	33696764	33697750
ENSE00003842671	33711549	33711700

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 98.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.0113 / max 294.9639, expressed in 1819 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73179	51.3361	1818
73178	0.6752	351

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	98.89	gold quality
right atrium auricular region	UBERON:0006631	98.33	gold quality
heart left ventricle	UBERON:0002084	98.28	gold quality
cardiac ventricle	UBERON:0002082	98.22	gold quality
cardiac atrium	UBERON:0002081	98.13	gold quality
right testis	UBERON:0004534	97.84	gold quality
left testis	UBERON:0004533	97.81	gold quality
heart	UBERON:0000948	97.52	gold quality
left ventricle myocardium	UBERON:0006566	97.48	gold quality
gastrocnemius	UBERON:0001388	97.42	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.32	gold quality
muscle of leg	UBERON:0001383	97.00	gold quality
lower esophagus mucosa	UBERON:0035834	96.84	gold quality
adenohypophysis	UBERON:0002196	96.83	gold quality
myocardium	UBERON:0002349	96.80	gold quality
islet of Langerhans	UBERON:0000006	96.71	gold quality
heart right ventricle	UBERON:0002080	96.63	gold quality
tibialis anterior	UBERON:0001385	96.53	gold quality
mucosa of transverse colon	UBERON:0004991	96.51	gold quality
testis	UBERON:0000473	96.43	gold quality
pituitary gland	UBERON:0000007	96.38	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.31	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.16	gold quality
biceps brachii	UBERON:0001507	96.10	gold quality
anterior cingulate cortex	UBERON:0009835	96.08	gold quality
hypothalamus	UBERON:0001898	95.98	gold quality
nucleus accumbens	UBERON:0001882	95.97	gold quality
right adrenal gland	UBERON:0001233	95.89	gold quality
prefrontal cortex	UBERON:0000451	95.79	gold quality
left adrenal gland	UBERON:0001234	95.78	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-111727	yes	207.02
E-MTAB-9543	yes	26.72
E-MTAB-7316	yes	21.95
E-GEOD-125970	yes	21.48
E-ANND-3	yes	14.77
E-MTAB-7606	no	229.31
E-CURD-11	no	222.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

44 targeting UQCC2, 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-3162-3P	100.00	65.37	363
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-7158-5P	99.25	67.95	796
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-1228-3P	99.00	66.53	857
HSA-MIR-320A-5P	98.88	66.75	1248
HSA-MIR-491-3P	98.88	68.86	1224
HSA-MIR-5006-5P	98.79	66.92	1246
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-3187-5P	98.36	65.74	1776
HSA-MIR-3921	97.81	67.45	1431
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-7111-3P	97.80	66.75	1467

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• M19 associates with the nucleoid and likely regulates the organization and metabolism of mtDNA. (PMID:19643811)
• Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients (PMID:22277967)
• The function of M19, a novel mitochondrial nucleoid protein, is characterized in muscle and pancreatic beta-cells. (PMID:22363741)
• This work provides insight into human complex III assembly by establishing that UQCC1 and UQCC2 are complex III assembly factors participating in cytochrome b biogenesis. (PMID:24385928)
• UQCC3 is reduced in cells depleted for the complex III assembly factors UQCC1 and UQCC2. Conversely, absence of UQCC3 in patient cells does not affect UQCC1 and UQCC2. (PMID:25008109)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	uqcc2	ENSDARG00000011272
mus_musculus	Uqcc2	ENSMUSG00000024208
rattus_norvegicus	Uqcc2	ENSRNOG00000025909
rattus_norvegicus	Uqcc1-ps1	ENSRNOG00000028997
caenorhabditis_elegans		WBGENE00044466

Protein

Protein identifiers

Ubiquinol-cytochrome c reductase complex assembly factor 2 — Q9BRT2 (reviewed: Q9BRT2)

Alternative names: Breast cancer-associated protein SGA-81M, Mitochondrial nucleoid factor 1, Mitochondrial protein M19

All UniProt accessions (3): Q9BRT2, Q5TAQ0, V5IRT4

UniProt curated annotations — full annotation on UniProt →

Function. Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability.

Subunit / interactions. Interacts with UQCC1. Forms a complex, named COMB/coordinator of mitochondrial CYTB biogenesis, composed of UQCC1, UQCC2, UQCC4, UQCC5 and UQCC6; stabilizes nascent cytochrome b/MT-CYB and promotes its membrane insertion. Forms a complex, named COMB/coordinator of mitochondrial CYTB biogenesis, composed of UQCC1, UQCC2, UQCC4, UQCC5 and UQCC6; stabilizes nascent cytochrome b/MT-CYB and promotes its membrane insertion. Forms a complex, named COMA, composed of UQCC1, UQCC2 and UQCC4; activates MT-CYB translation. Forms a complex, named COMC, composed of UQCC1, UQCC2; UQCC3 and UQCC4; mediates MT-CYB hemylation and association with the first nuclear-encoded CIII subunit UQCRQ.

Subcellular location. Mitochondrion matrix. Mitochondrion nucleoid. Mitochondrion. Mitochondrion intermembrane space. Mitochondrion inner membrane.

Tissue specificity. Pancreas, skeletal muscle, kidney, liver and heart.

Disease relevance. Mitochondrial complex III deficiency, nuclear type 7 (MC3DN7) [MIM:615824] 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. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_115716* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037698	UQCC2	Family

Pfam: PF20180

UniProt features (2 total): transit peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BRT2-F1	88.94	0.70

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9865881	Complex III assembly

MSigDB gene sets: 223 (showing top): HORIUCHI_WTAP_TARGETS_DN, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_REGULATION_OF_SKELETAL_MUSCLE_CELL_DIFFERENTIATION, GOBP_INSULIN_SECRETION, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_CYTOCHROME_COMPLEX_ASSEMBLY, GOBP_TRANSLATION, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_REGULATION_OF_OXIDATIVE_PHOSPHORYLATION

GO Biological Process (5): regulation of oxidative phosphorylation (GO:0002082), mitochondrial respiratory chain complex III assembly (GO:0034551), regulation of insulin secretion (GO:0050796), positive regulation of mitochondrial translation (GO:0070131), regulation of skeletal muscle cell differentiation (GO:2001014)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (7): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial intermembrane space (GO:0005758), mitochondrial matrix (GO:0005759), nuclear body (GO:0016604), mitochondrial nucleoid (GO:0042645), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	3
intracellular membraneless organelle	2
oxidative phosphorylation	1
regulation of aerobic respiration	1
respiratory chain complex III assembly	1
mitochondrial respiratory chain complex assembly	1
insulin secretion	1
regulation of protein secretion	1
regulation of peptide hormone secretion	1
mitochondrial translation	1
positive regulation of translation	1
regulation of mitochondrial translation	1
skeletal muscle cell differentiation	1
regulation of cell differentiation	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrial envelope	1
organelle envelope lumen	1
intracellular organelle lumen	1
nucleoplasm	1
mitochondrial matrix	1
nucleoid	1
cellular anatomical structure	1

Protein interactions and networks

STRING

866 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UQCC2	UQCC1	Q9NVA1	823
UQCC2	MT-CYB	P00156	725
UQCC2	TTC19	Q6DKK2	678
UQCC2	UQCC3	Q6UW78	678
UQCC2	MFN1	Q8IWA4	661
UQCC2	LYRM7	Q5U5X0	621
UQCC2	MFN2	O95140	603
UQCC2	BCS1L	Q9Y276	582
UQCC2	UQCRB	P14927	571
UQCC2	UQCRQ	O14949	506
UQCC2	NDUFAF2	Q8N183	471
UQCC2	CLDN2	P57739	471
UQCC2	NDUFAF1	Q9Y375	447
UQCC2	MSS51	Q4VC12	447
UQCC2	UQCR10	Q9UDW1	447

IntAct

85 interactions, top by confidence:

A	B	Type	Score
CDR2	KTN1	psi-mi:“MI:0914”(association)	0.730
YARS2	HSPD1	psi-mi:“MI:0914”(association)	0.710
UQCC2	UQCC1	psi-mi:“MI:0915”(physical association)	0.620
EXOC8	UQCC2	psi-mi:“MI:0915”(physical association)	0.560
CDKN2D	UQCC2	psi-mi:“MI:0915”(physical association)	0.560
GNG13	UQCC2	psi-mi:“MI:0915”(physical association)	0.560
ZNF765	UQCC2	psi-mi:“MI:0915”(physical association)	0.560
TXN2	UQCC2	psi-mi:“MI:0915”(physical association)	0.560
UQCC2	MRFAP1	psi-mi:“MI:0915”(physical association)	0.560
UQCC2	NRDE2	psi-mi:“MI:0915”(physical association)	0.560
SNAP25	UQCC2	psi-mi:“MI:0915”(physical association)	0.560
TRAPPC2	UQCC2	psi-mi:“MI:0915”(physical association)	0.560
MKRN3	UQCC2	psi-mi:“MI:0915”(physical association)	0.560
UQCC2	GNG13	psi-mi:“MI:0915”(physical association)	0.560
SLX1A	BACH1	psi-mi:“MI:0914”(association)	0.530
TMEM185A	TSPAN6	psi-mi:“MI:0914”(association)	0.530
TM2D2	TMEM97	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
GRB2	UQCC2	psi-mi:“MI:0915”(physical association)	0.490
UQCC2	RABGAP1L	psi-mi:“MI:0915”(physical association)	0.490
RABGAP1L	UQCC2	psi-mi:“MI:0915”(physical association)	0.490
UQCC2	CEACAM5	psi-mi:“MI:0915”(physical association)	0.370
UQCC2	HSPB1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (65): UQCC2 (Affinity Capture-MS), UQCC2 (Affinity Capture-MS), UQCC2 (Affinity Capture-MS), UQCC2 (Two-hybrid), UQCC2 (Two-hybrid), UQCC2 (Two-hybrid), UQCC2 (Affinity Capture-MS), UQCC2 (Affinity Capture-MS), UQCC2 (Affinity Capture-MS), UQCC2 (Affinity Capture-MS), UQCC2 (Affinity Capture-MS), UQCC2 (Affinity Capture-MS), UQCC2 (Affinity Capture-MS), UQCC2 (Affinity Capture-MS), UQCC2 (Affinity Capture-MS)

ESM2 similar proteins: A0JPA6, A1C9A5, A5PLG0, B4F7A1, B5DFN3, P0CB99, P0CC00, P23935, P56556, P82933, Q02366, Q0MQA1, Q0MQA2, Q0MQA3, Q0MQA4, Q0MQA5, Q0P574, Q16718, Q2M2S9, Q3SZ13, Q3T040, Q4IN52, Q4QQY2, Q4R5J1, Q4SQJ2, Q4WHK3, Q58DV5, Q5AX36, Q5BBH7, Q5I0K8, Q5REC3, Q5SPH9, Q5U5X0, Q5ZMU0, Q63362, Q6DCS1, Q6DDY9, Q6PBU7, Q6TUF2, Q8BQU3

Diamond homologs: B0X4T2, B5DFN3, Q0VFC7, Q3SZ13, Q6PBU7, Q9BRT2, Q9CQY6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	39
Likely benign	27
Benign	12

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
133295	NM_032340.4(UQCC2):c.214-3C>G	Pathogenic
2499488	NM_032340.4(UQCC2):c.101G>A (p.Arg34Gln)	Pathogenic

SpliceAI

2409 predictions. Top by Δscore:

Variant	Effect	Δscore
6:33690915:A:AG	acceptor_gain	1.0000
6:33690916:G:GG	acceptor_gain	1.0000
6:33690916:GCTCT:G	acceptor_gain	1.0000
6:33691061:G:GT	donor_gain	1.0000
6:33691105:CACAG:C	donor_loss	1.0000
6:33691107:CAG:C	donor_loss	1.0000
6:33691108:AG:A	donor_loss	1.0000
6:33691109:GGTCT:G	donor_loss	1.0000
6:33691110:G:GA	donor_loss	1.0000
6:33691116:G:GT	donor_gain	1.0000
6:33691613:A:AG	acceptor_gain	1.0000
6:33691614:G:GG	acceptor_gain	1.0000
6:33691614:GCCA:G	acceptor_gain	1.0000
6:33691796:TGCA:T	acceptor_loss	1.0000
6:33691797:GCAG:G	acceptor_loss	1.0000
6:33691799:A:AG	acceptor_gain	1.0000
6:33691799:A:T	acceptor_loss	1.0000
6:33691799:AGAG:A	acceptor_gain	1.0000
6:33691800:G:GC	acceptor_gain	1.0000
6:33691800:GA:G	acceptor_gain	1.0000
6:33691800:GAGG:G	acceptor_gain	1.0000
6:33691800:GAGGA:G	acceptor_gain	1.0000
6:33691924:AAGAT:A	donor_gain	1.0000
6:33691925:AGAT:A	donor_gain	1.0000
6:33691925:AGATG:A	donor_loss	1.0000
6:33691926:G:GT	donor_gain	1.0000
6:33691926:GAT:G	donor_gain	1.0000
6:33691926:GATG:G	donor_loss	1.0000
6:33691927:AT:A	donor_gain	1.0000
6:33691927:ATG:A	donor_loss	1.0000

AlphaMissense

815 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:33711570:A:C	F39L	0.999
6:33711570:A:T	F39L	0.999
6:33711572:A:G	F39L	0.999
6:33711641:A:G	W16R	0.999
6:33711641:A:T	W16R	0.999
6:33711571:A:G	F39S	0.998
6:33711639:C:A	W16C	0.998
6:33711639:C:G	W16C	0.998
6:33711661:A:G	F9S	0.997
6:33701380:A:G	L60S	0.996
6:33711604:C:T	G28D	0.996
6:33711572:A:T	F39I	0.995
6:33711658:A:G	L10P	0.995
6:33711571:A:C	F39C	0.994
6:33711595:A:G	L31P	0.994
6:33711660:A:C	F9L	0.994
6:33711660:A:T	F9L	0.994
6:33711662:A:G	F9L	0.994
6:33711671:A:G	Y6H	0.994
6:33711640:C:G	W16S	0.993
6:33711572:A:C	F39V	0.992
6:33711605:C:G	G28R	0.991
6:33711652:A:G	L12P	0.991
6:33711661:A:C	F9C	0.991
6:33711671:A:C	Y6D	0.991
6:33711563:C:G	G42R	0.990
6:33711563:C:T	G42R	0.990
6:33711583:A:T	V35E	0.990
6:33711592:C:G	R32P	0.990
6:33711621:T:A	K22N	0.990

dbSNP variants (sampled 300 via entrez): RS1000006383 (6:33698765 A>G), RS1000069937 (6:33700233 TAAAG>T), RS1000432649 (6:33702043 A>G), RS1000603989 (6:33711174 G>C,T), RS1000611937 (6:33708575 C>A,T), RS1000695509 (6:33698513 C>A,T), RS1000745399 (6:33710888 C>G,T), RS1000797016 (6:33705311 T>G), RS1001599007 (6:33699785 A>C), RS1001642476 (6:33701497 C>T), RS1001719139 (6:33713143 C>T), RS1001785773 (6:33708222 C>T), RS1001818428 (6:33707905 G>A,C), RS1001954958 (6:33704609 G>A), RS1002248462 (6:33710464 C>T)

Disease associations

OMIM: gene MIM:614461 | disease phenotypes: MIM:615824

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial complex III deficiency nuclear type 7	Strong	Autosomal recessive
mitochondrial complex III deficiency	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Moderate	AR

Mondo (2): mitochondrial complex III deficiency nuclear type 7 (MONDO:0014356), mitochondrial complex III deficiency (MONDO:0015448)

Orphanet (0):

HPO phenotypes

32 total (30 of 32 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000286	Epicanthus
HP:0000407	Sensorineural hearing impairment
HP:0000582	Upslanted palpebral fissure
HP:0000664	Synophrys
HP:0000718	Aggressive behavior
HP:0000752	Hyperactivity
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001319	Neonatal hypotonia
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001562	Oligohydramnios
HP:0001623	Breech presentation
HP:0001942	Metabolic acidosis
HP:0002013	Vomiting
HP:0002049	Proximal renal tubular acidosis
HP:0002133	Status epilepticus
HP:0002151	Increased circulating lactate concentration
HP:0002465	Poor speech
HP:0002490	Increased CSF lactate
HP:0003128	Lactic acidosis
HP:0003623	Neonatal onset
HP:0004902	Congenital lactic acidosis
HP:0005280	Depressed nasal bridge
HP:0008314	Decreased activity of mitochondrial complex II
HP:0008347	Decreased activity of mitochondrial complex IV
HP:0011923	Decreased activity of mitochondrial complex I

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST004110_15	Gait speed in old age	7.000000e-07
GCST005951_153	Body mass index	5.000000e-09
GCST006920_1	Regular attendance at a gym or sports club	4.000000e-08
GCST007062_2	Hodgkin’s lymphoma	2.000000e-10
GCST007656_5	Chronic obstructive pulmonary disease or resting heart rate (pleiotropy)	3.000000e-15
GCST008919_7	Asthma and attention deficit hyperactivity disorder	4.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0009592	social interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression	4
sodium arsenite	decreases expression	2
Panobinostat	decreases expression, affects cotreatment	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
nobiletin	decreases expression, decreases reaction	1
sodium arsenate	decreases expression, decreases reaction	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Temozolomide	increases expression	1
Decitabine	affects expression	1
Air Pollutants, Occupational	affects expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, increases expression	1
Cisplatin	affects expression	1
Coumestrol	increases expression	1
Doxorubicin	increases expression	1
Formaldehyde	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Rotenone	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3KX	Abcam HEK293T UQCC2 KO	Transformed cell line	Female
CVCL_E2NI	HAP1 UQCC2 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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