BOLA3 (bolA family member 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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 information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
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 miRNA information provided by mirtarbase database.
39
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (39)
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (19)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613183 24415 ENSG00000163170
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 107
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BOLA3-related disorder Likely pathogenic; Pathogenic rs772014561 RCV003394135
Multiple mitochondrial dysfunctions syndrome 2 Likely pathogenic; Pathogenic rs772014561, rs143492730, rs2528311007, rs869320737, rs550855238, rs1209052568 RCV001658282
RCV000210081
RCV003324292
RCV000024012
RCV001007641
RCV001007956
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs113779235 RCV005905448
Familial cancer of breast Benign rs142868057 RCV005890585
Lung cancer Likely benign rs113779235 RCV005905450
Ovarian serous cystadenocarcinoma Benign; Likely benign rs142868057, rs113779235 RCV005890586
RCV005905449
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 40273865
Carcinogenesis Associate 36017386
Carcinoma Hepatocellular Associate 36017386
Carcinoma Renal Cell Associate 39510574
Cardiomyopathies Associate 24334290
Cardiomyopathy Hypertrophic Associate 40273865
Conotruncal cardiac defects Associate 19493349
Endometrial Neoplasms Associate 36466815
Hyperglycinemia Nonketotic Associate 24334290, 40273865
Leukodystrophy Metachromatic Associate 24334290