BOLA3 (bolA family member 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
388962
Gene name Gene Name - the full gene name approved by the HGNC.
BolA family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BOLA3
Synonyms (NCBI Gene) Gene synonyms aliases
MMDS2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613183 24415 ENSG00000163170
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Sequence length 107
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Multiple Mitochondrial Dysfunctions Syndrome Multiple mitochondrial dysfunctions syndrome 2 rs869320737, rs143492730, rs550855238, rs1209052568 N/A
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease 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