BOLA3 (bolA family member 3)

Gene

• Entrez ID: 388962
• Gene name: BolA family member 3
• Gene symbol: BOLA3
• Synonyms (NCBI Gene): MMDS2
• Chromosome: 2
• Chromosome location: 2p13.1
• Summary: 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. Muta

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143492730	G>A	Pathogenic	Coding sequence variant, stop gained
rs550855238	A>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs869320737	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1209052568	CCT>-	Pathogenic	Coding sequence variant, intron variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT303585	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT303579	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT549159	hsa-miR-4517	PAR-CLIP	21572407
MIRT549160	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT549158	hsa-miR-944	PAR-CLIP	21572407
MIRT549157	hsa-miR-548p	PAR-CLIP	21572407
MIRT549156	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT549154	hsa-miR-5692b	PAR-CLIP	21572407
MIRT549155	hsa-miR-5692c	PAR-CLIP	21572407
MIRT549152	hsa-miR-8076	PAR-CLIP	21572407
MIRT549153	hsa-miR-556-5p	PAR-CLIP	21572407
MIRT549151	hsa-miR-3688-3p	PAR-CLIP	21572407
MIRT549150	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT549149	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT549148	hsa-miR-5093	PAR-CLIP	21572407
MIRT303585	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT303579	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT549159	hsa-miR-4517	PAR-CLIP	21572407
MIRT549160	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT549158	hsa-miR-944	PAR-CLIP	21572407
MIRT549157	hsa-miR-548p	PAR-CLIP	21572407
MIRT549156	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT549154	hsa-miR-5692b	PAR-CLIP	21572407
MIRT549155	hsa-miR-5692c	PAR-CLIP	21572407
MIRT549152	hsa-miR-8076	PAR-CLIP	21572407
MIRT549153	hsa-miR-556-5p	PAR-CLIP	21572407
MIRT549151	hsa-miR-3688-3p	PAR-CLIP	21572407
MIRT549150	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT549149	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT549148	hsa-miR-5093	PAR-CLIP	21572407
MIRT823717	hsa-miR-3121-3p	CLIP-seq
MIRT823718	hsa-miR-3143	CLIP-seq
MIRT823719	hsa-miR-4789-5p	CLIP-seq
MIRT823720	hsa-miR-4799-5p	CLIP-seq
MIRT823717	hsa-miR-3121-3p	CLIP-seq
MIRT823718	hsa-miR-3143	CLIP-seq
MIRT823719	hsa-miR-4789-5p	CLIP-seq
MIRT823720	hsa-miR-4799-5p	CLIP-seq
MIRT2182200	hsa-miR-513a-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27499296, 27532772, 32296183, 33961781, 34063696
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	22746225
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	22746225
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	NAS	27532772
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	NAS	27532772
GO:0016604	Component	Nuclear body	IDA
GO:0045454	Process	Cell redox homeostasis	NAS	27532772
GO:0051604	Process	Protein maturation	IBA
GO:0097009	Process	Energy homeostasis	IEA
GO:1903442	Process	Response to lipoic acid	IEA
GO:1990229	Component	Iron-sulfur cluster assembly complex	IPI	27532772
GO:1990845	Process	Adaptive thermogenesis	IEA

Other IDs

• MIM: 613183
• HGNC: 24415
• e!Ensembl: ENSG00000163170

Protein

• UniProt ID: Q53S33
• Protein name: BolA-like protein 3
• Protein 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 (PubMed:27532772). {ECO:0000250|UniProtKB:P39724, ECO:0000305|
• PDB: 2NCL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01722	BolA	21 → 107	BolA-like protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:18548201}.
• Sequence:

  MAAWSPAAAAPLLRGIRGLPLHHRMFATQTEGELRVTQILKEKFPRATAIKVTDISGGCG
  AMYEIKIESEEFKEKRTVQQHQMVNQALKEEIKEMHGLRIFTSVPKR

• Sequence length: 107

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
BOLA3-related disorder	Likely pathogenic; Pathogenic	rs772014561	RCV003394135	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple mitochondrial dysfunctions syndrome 2	Likely pathogenic; Pathogenic	rs772014561, rs143492730, rs2528311007, rs869320737, rs550855238, rs1209052568	RCV001658282 RCV000210081 RCV003324292 RCV000024012 RCV001007641 RCV001007956	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	40273865	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36017386	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36017386	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	39510574	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24334290	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30302924		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	40273865	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	19493349	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	BEFREE	30302924		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36466815	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycinemia Nonketotic	Hyperglycemia	Pubtator	24334290, 40273865	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30759996		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29501406		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29501406		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	30302924		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	24334290	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	40273865	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37823603	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Mitochondrial Dysfunctions Syndrome	Multiple Mitochondrial Dysfunctions Syndrome	BEFREE	22562699		★☆☆☆☆ Found in Text Mining only
Multiple Mitochondrial Dysfunctions Syndrome	Multiple Mitochondrial Dysfunctions Syndrome	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1	Multiple Mitochondrial Dysfunctions Syndrome	BEFREE	29767723		★☆☆☆☆ Found in Text Mining only
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA	Multiple Mitochondrial Dysfunctions Syndrome with hyperglycinemia	GENOMICS_ENGLAND_DG	11156534, 27604308		★☆☆☆☆ Found in Text Mining only
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA	Multiple Mitochondrial Dysfunctions Syndrome with hyperglycinemia	UNIPROT_DG	21944046, 22562699, 24334290, 26741492		★☆☆☆☆ Found in Text Mining only
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA	Multiple Mitochondrial Dysfunctions Syndrome with hyperglycinemia	ORPHANET_DG	24334290, 24777537		★☆☆☆☆ Found in Text Mining only
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA	Multiple Mitochondrial Dysfunctions Syndrome with hyperglycinemia	BEFREE	29767723		★☆☆☆☆ Found in Text Mining only
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA	Multiple Mitochondrial Dysfunctions Syndrome with hyperglycinemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA	Multiple Mitochondrial Dysfunctions Syndrome with hyperglycinemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Multiple mitochondrial dysfunctions syndrome type 2	Multiple Mitochondrial Dysfunctions Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24334290	Associate	★☆☆☆☆ Found in Text Mining only
Nonketotic Hyperglycinemia	Nonketotic Hyperglycinemia	BEFREE	24334290		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	24334290	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34078439	Stimulate	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34774009	Associate	★☆☆☆☆ Found in Text Mining only