BOLA3

Summary

BOLA3 (bolA family member 3, HGNC:24415) is a protein-coding gene on chromosome 2p13.1, encoding BolA-like protein 3 (Q53S33). Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins.

This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046).

Source: NCBI Gene 388962 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 114 total — 2 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 36
• MANE Select transcript: NM_212552

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24415
Approved symbol	BOLA3
Name	bolA family member 3
Location	2p13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000163170
Ensembl biotype	protein_coding
OMIM	613183
Entrez	388962

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000295326, ENST00000327428, ENST00000469676, ENST00000477685, ENST00000484655, ENST00000940097, ENST00000940098, ENST00000940099

RefSeq mRNA: 2 — MANE Select: NM_212552 NM_001035505, NM_212552

CCDS: CCDS33224, CCDS33225

Canonical transcript exons

ENST00000327428 — 4 exons

Exon	Start	End
ENSE00001950182	74135400	74135658
ENSE00002172458	74147821	74147912
ENSE00003599940	74142272	74142360
ENSE00003673053	74145189	74145303

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 99.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.2324 / max 464.2944, expressed in 1805 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29162	39.8689	1804
29164	1.1968	877
29163	1.1667	768

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.39	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.04	gold quality
myocardium	UBERON:0002349	98.82	gold quality
endothelial cell	CL:0000115	98.50	gold quality
quadriceps femoris	UBERON:0001377	98.13	gold quality
vastus lateralis	UBERON:0001379	98.08	gold quality
tibialis anterior	UBERON:0001385	98.06	gold quality
kidney epithelium	UBERON:0004819	98.06	gold quality
heart right ventricle	UBERON:0002080	97.79	gold quality
parotid gland	UBERON:0001831	97.69	gold quality
deltoid	UBERON:0001476	97.58	gold quality
ileal mucosa	UBERON:0000331	97.55	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.48	gold quality
cardiac atrium	UBERON:0002081	97.29	gold quality
biceps brachii	UBERON:0001507	97.24	gold quality
right atrium auricular region	UBERON:0006631	97.21	gold quality
colonic mucosa	UBERON:0000317	97.18	gold quality
apex of heart	UBERON:0002098	97.05	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.88	gold quality
cardiac ventricle	UBERON:0002082	96.71	gold quality
heart left ventricle	UBERON:0002084	96.70	gold quality
mucosa of transverse colon	UBERON:0004991	96.39	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.35	gold quality
heart	UBERON:0000948	96.21	gold quality
epithelial cell of pancreas	CL:0000083	96.20	silver quality
body of tongue	UBERON:0011876	96.19	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.97	gold quality
middle temporal gyrus	UBERON:0002771	95.94	gold quality
skeletal muscle tissue	UBERON:0001134	95.80	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.74	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	41.47
E-CURD-122	yes	17.72
E-ANND-3	yes	11.98

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting BOLA3, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-190B-3P	99.33	68.29	1382
HSA-MIR-5583-3P	99.06	65.68	1018
HSA-MIR-9500	98.62	66.54	1845
HSA-MIR-556-5P	97.75	66.17	473

Literature-anchored findings (GeneRIF, showing 12)

• BOLA-like proteins are widely conserved from prokaryotes to eukaryotes and may be involved in cell proliferation or cell-cycle regulation. (PMID:14718656)
• This study reported that all three human BolA proteins (hBolA1, hBolA2, and hBolA3) are novel non-classical secreted proteins identified with bioinformatics and molecular biology experiments. (PMID:18548201)
• Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes [case report] (PMID:21944046)
• BOLA3 plays a crucial role in the biogenesis of iron-sulfur clusters. (PMID:22562699)
• Clinical features of BOLA3-associated variant nonketotic hyperglycemia include severe neurodegeneration after a period of normal development. (PMID:24334290)
• this study shows that BOLA3 deficiency controls endothelial metabolism and glycine homeostasis in pulmonary hypertension (PMID:30759996)
• BOLA3 can form a functional homodimer capable of engaging in Fe-S cluster transfer (PMID:31486956)
• A pathway for assembling 4Fe-4S clusters in mitochondrial iron-sulfur protein biogenesis. (PMID:31724821)
• Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation. (PMID:34063696)
• BOLA3 is a prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma. (PMID:35286914)
• Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3. (PMID:37511493)
• BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome. (PMID:37823603)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	bola3	ENSDARG00000098130
mus_musculus	Bola3	ENSMUSG00000045160
rattus_norvegicus	Bola3	ENSRNOG00000021866
caenorhabditis_elegans	Y105E8A.11	WBGENE00013671

Paralogs (3): BOLA2B (ENSG00000169627), BOLA1 (ENSG00000178096), BOLA2 (ENSG00000183336)

Protein

Protein identifiers

BolA-like protein 3 — Q53S33 (reviewed: Q53S33)

All UniProt accessions (1): Q53S33

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1.

Subunit / interactions. Interacts with NFU1.

Subcellular location. Mitochondrion.

Tissue specificity. Widely expressed.

Disease relevance. Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2) [MIM:614299] A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the BolA/IbaG family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q53S33-1	1	yes
Q53S33-2	2

RefSeq proteins (2): NP_001030582, NP_997717* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002634	BolA	Family
IPR036065	BolA-like_sf	Homologous_superfamily
IPR052275	Mt_Fe-S_assembly_factor	Family

Pfam: PF01722

UniProt features (12 total): helix 3, strand 3, sequence variant 3, chain 1, splice variant 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2NCL	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q53S33-F1	81.33	0.47

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 195 (showing top): SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_INTRACELLULAR_IRON_ION_HOMEOSTASIS, TATTATA_MIR374, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_PROTEIN_MATURATION, GOBP_CELL_REDOX_HOMEOSTASIS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_GLUCOSE_METABOLIC_PROCESS, GOBP_RESPONSE_TO_LIPID, GOBP_RESPONSE_TO_FATTY_ACID, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_ENERGY_HOMEOSTASIS, GOBP_MONOATOMIC_ION_HOMEOSTASIS, GOBP_MONOSACCHARIDE_METABOLIC_PROCESS

GO Biological Process (9): glucose metabolic process (GO:0006006), intracellular iron ion homeostasis (GO:0006879), protein lipoylation (GO:0009249), iron-sulfur cluster assembly (GO:0016226), cell redox homeostasis (GO:0045454), protein maturation (GO:0051604), energy homeostasis (GO:0097009), response to lipoic acid (GO:1903442), adaptive thermogenesis (GO:1990845)

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

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), cytosol (GO:0005829), nuclear body (GO:0016604), iron-sulfur cluster assembly complex (GO:1990229)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
hexose metabolic process	1
intracellular monoatomic cation homeostasis	1
inorganic ion homeostasis	1
peptidyl-lysine modification	1
protein maturation	1
metallo-sulfur cluster assembly	1
cellular homeostasis	1
gene expression	1
protein metabolic process	1
multicellular organismal-level homeostasis	1
response to fatty acid	1
temperature homeostasis	1
binding	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1
cellular anatomical structure	1
nucleoplasm	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

1170 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BOLA3	BOLA1	Q9Y3E2	993
BOLA3	BOLA2	Q9H3K6	986
BOLA3	GLRX5	Q86SX6	929
BOLA3	NFU1	Q9UMS0	908
BOLA3	IBA57	Q5T440	875
BOLA3	LIAS	O43766	845
BOLA3	ISCA2	Q86U28	822
BOLA3	ISCA1	Q9BUE6	803
BOLA3	ISCU	Q9H1K1	739
BOLA3	FDX2	Q6P4F2	737
BOLA3	NUBPL	Q8TB37	721
BOLA3	GLRX3	O76003	674
BOLA3	LIPT2	A6NK58	669
BOLA3	LIPT1	Q9Y234	647
BOLA3	LYRM4	Q9HD34	631

IntAct

73 interactions, top by confidence:

A	B	Type	Score
BOLA3	GLRX5	psi-mi:“MI:0915”(physical association)	0.820
GLRX5	BOLA3	psi-mi:“MI:0407”(direct interaction)	0.820
BOLA3	GLRX5	psi-mi:“MI:0914”(association)	0.820
BOLA3	GLRX5	psi-mi:“MI:0407”(direct interaction)	0.820
NDUFAF5	NDUFAF8	psi-mi:“MI:0914”(association)	0.750
SDHAF3	NDUFAB1	psi-mi:“MI:0914”(association)	0.640
GLRX3	BOLA3	psi-mi:“MI:0915”(physical association)	0.560
KRT34	BOLA3	psi-mi:“MI:0915”(physical association)	0.560
MAGEA6	BOLA3	psi-mi:“MI:0915”(physical association)	0.560
BOLA3	PICK1	psi-mi:“MI:0915”(physical association)	0.560
BOLA3	RAB17	psi-mi:“MI:0915”(physical association)	0.560
INCA1	BOLA3	psi-mi:“MI:0915”(physical association)	0.560
BOLA3	GLRX5	psi-mi:“MI:0407”(direct interaction)	0.560
NUDT6	DENR	psi-mi:“MI:0914”(association)	0.530
FAHD2A	DBT	psi-mi:“MI:0914”(association)	0.530

BioGRID (48): BOLA3 (Affinity Capture-MS), BOLA3 (Affinity Capture-MS), BOLA1 (Co-fractionation), BOLA3 (Co-fractionation), BOLA3 (Affinity Capture-MS), BOLA3 (Affinity Capture-MS), BOLA3 (Affinity Capture-MS), BOLA3 (Affinity Capture-MS), NDUFS6 (Affinity Capture-MS), BOLA3 (Affinity Capture-MS), BOLA3 (Affinity Capture-MS), BOLA3 (Affinity Capture-MS), GLRX5 (Affinity Capture-MS), BOLA3 (Affinity Capture-MS), PITRM1 (Affinity Capture-MS)

ESM2 similar proteins: A9QWQ1, O14625, O22969, O46675, O46676, O46677, O46678, O62657, O76096, O89098, O97919, P09341, P10147, P10855, P13236, P13501, P14097, P16619, P19875, P19876, P30782, P30882, P40224, P46632, P47854, P48061, P50229, P50230, P50231, P97272, Q17QA1, Q53S33, Q5EBF6, Q5I1Z0, Q68A92, Q68AZ0, Q711P4, Q8HYQ1, Q8HYQ2, Q8HYQ3

Diamond homologs: O14280, P39724, P53082, P91375, Q3SZ84, Q53S33, Q84W65, Q86HT3, Q8BGS2, Q8CEI1, Q9FIC3, Q9H3K6, Q9KPS0, Q9USK1, Q682I1, Q86KD0, P0ABE2, P0ABE3, P0ABE4, Q3E793, Q3T138, Q56585, Q5RCE5, Q9D8S9, Q9Y3E2, Q89AF0, Q9ZCE4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
BOLA3	“form complex”	“Mitochondrial BOLA3-GLRX5 iron-sulfur cluster assembly complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 35 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
Aerobic respiration and respiratory electron transport	6	22.1×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	3
Uncertain significance	58
Likely benign	26
Benign	16

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
224514	NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter)	Pathogenic
31020	NM_212552.3(BOLA3):c.123dup (p.Glu42fs)	Pathogenic
2577215	NM_212552.3(BOLA3):c.259-1G>C	Likely pathogenic
4072006	NM_212552.3(BOLA3):c.251T>C (p.Val84Ala)	Likely pathogenic
816698	NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)	Likely pathogenic

SpliceAI

577 predictions. Top by Δscore:

Variant	Effect	Δscore
2:74145183:CCTTA:C	donor_loss	1.0000
2:74145184:CTTA:C	donor_loss	1.0000
2:74145185:TTAC:T	donor_loss	1.0000
2:74145186:TACCT:T	donor_loss	1.0000
2:74145187:A:T	donor_loss	1.0000
2:74145188:C:CT	donor_loss	1.0000
2:74145304:C:CC	acceptor_gain	1.0000
2:74145308:C:CT	acceptor_gain	1.0000
2:74147819:AC:A	donor_gain	1.0000
2:74147820:CC:C	donor_gain	1.0000
2:74147820:CCCCG:C	donor_gain	1.0000
2:74142267:CTGA:C	donor_loss	0.9900
2:74142268:TGACC:T	donor_loss	0.9900
2:74142269:GA:G	donor_loss	0.9900
2:74142270:A:C	donor_loss	0.9900
2:74142271:CCTG:C	donor_loss	0.9900
2:74145187:A:AC	donor_gain	0.9900
2:74145188:C:CC	donor_gain	0.9900
2:74145299:GGAAG:G	acceptor_gain	0.9900
2:74145300:GAAG:G	acceptor_gain	0.9900
2:74145301:AAG:A	acceptor_gain	0.9900
2:74145302:AG:A	acceptor_gain	0.9900
2:74145303:GC:G	acceptor_loss	0.9900
2:74145304:C:A	acceptor_loss	0.9900
2:74145305:T:C	acceptor_loss	0.9900
2:74145308:C:T	acceptor_gain	0.9900
2:74145310:C:CT	acceptor_gain	0.9900
2:74145315:C:CT	acceptor_gain	0.9900
2:74147815:GCTC:G	donor_loss	0.9900
2:74147816:CTCAC:C	donor_loss	0.9900

AlphaMissense

695 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:74142279:A:T	V84D	0.997
2:74142314:A:C	F72L	0.997
2:74142314:A:T	F72L	0.997
2:74142315:A:G	F72S	0.997
2:74142316:A:G	F72L	0.997
2:74135618:A:T	I100K	0.996
2:74135627:C:T	G97E	0.996
2:74142289:G:C	H81D	0.996
2:74142290:C:A	Q80H	0.996
2:74142290:C:G	Q80H	0.996
2:74142325:A:G	S69P	0.996
2:74135618:A:G	I100T	0.995
2:74135624:A:G	L98S	0.995
2:74142297:A:T	V78D	0.995
2:74145203:A:T	V52D	0.995
2:74135629:A:C	H96Q	0.994
2:74135629:A:T	H96Q	0.994
2:74142315:A:C	F72C	0.994
2:74145239:A:T	L40H	0.994
2:74135621:C:G	R99P	0.993
2:74142291:T:G	Q80P	0.993
2:74142351:C:T	G60E	0.993
2:74145198:C:G	D54H	0.993
2:74145239:A:G	L40P	0.993
2:74135631:G:C	H96D	0.992
2:74135631:G:T	H96N	0.992
2:74135654:A:G	L88P	0.992
2:74142355:A:G	C59R	0.992
2:74145196:G:C	D54E	0.992
2:74145196:G:T	D54E	0.992

dbSNP variants (sampled 300 via entrez): RS1000094086 (2:74148899 G>A,T), RS1000334840 (2:74149847 C>A), RS1000388741 (2:74143079 G>T), RS1000479842 (2:74143405 C>A,T), RS1000706673 (2:74149582 T>C), RS1000827355 (2:74138713 G>T), RS1001093054 (2:74138496 C>G,T), RS1001308102 (2:74148156 G>A), RS1001483166 (2:74142101 A>G), RS1001515711 (2:74142419 A>C,G), RS1002340956 (2:74147065 C>A,G,T), RS1002667946 (2:74135916 C>T), RS1002867030 (2:74147392 G>C), RS1003121711 (2:74146429 A>G), RS1003276270 (2:74140489 G>C,T)

Disease associations

OMIM: gene MIM:613183 | disease phenotypes: MIM:614299

GenCC curated gene-disease

Disease	Classification	Inheritance
multiple mitochondrial dysfunctions syndrome 2	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Definitive	AR

Mondo (1): multiple mitochondrial dysfunctions syndrome 2 (MONDO:0013675)

Orphanet (1): Multiple mitochondrial dysfunctions syndrome type 2 (Orphanet:401874)

HPO phenotypes

36 total (30 of 36 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000505	Visual impairment
HP:0000648	Optic atrophy
HP:0000975	Hyperhidrosis
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001254	Lethargy
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001290	Generalized hypotonia
HP:0001324	Muscle weakness
HP:0001336	Myoclonus
HP:0001522	Death in infancy
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0002013	Vomiting
HP:0002071	Abnormality of extrapyramidal motor function
HP:0002093	Respiratory insufficiency
HP:0002098	Respiratory distress
HP:0002154	Hyperglycinemia
HP:0002240	Hepatomegaly
HP:0002376	Developmental regression
HP:0002415	Leukodystrophy
HP:0002421	Poor head control
HP:0002789	Tachypnea
HP:0002878	Respiratory failure
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
HP:0003128	Lactic acidosis
HP:0003593	Infantile onset
HP:0008314	Decreased activity of mitochondrial complex II

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004899_10	Gestational age at birth (maternal effect)	2.000000e-07
GCST007323_60	Risk-taking tendency (4-domain principal component model)	4.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005112	gestational age
EFO:0005939	parental genotype effect measurement
EFO:0008579	risk-taking behaviour

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression, increases methylation	2
arsenite	affects binding, increases reaction, increases methylation	2
Benzo(a)pyrene	affects cotreatment, increases expression, decreases methylation, decreases reaction	2
Valproic Acid	increases expression, affects expression	2
Cyclosporine	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
aristolochic acid I	decreases expression	1
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone	affects cotreatment, increases expression, decreases reaction	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	increases expression	1
K 7174	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ethanol	affects cotreatment, decreases expression, increases abundance	1
Catechin	affects cotreatment, decreases reaction, increases expression	1
Dexamethasone	increases expression	1
Doxorubicin	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Hydrogen Peroxide	affects expression	1
Polycyclic Aromatic Hydrocarbons	increases abundance, affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Tunicamycin	decreases expression	1
Aflatoxin B1	increases expression	1
Cadmium Chloride	decreases expression	1
Thapsigargin	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XM06	HAP1 BOLA3 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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