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Gene : BOLA3 Homo sapiens

Name  ? bolA family member 3 Cytological Location  2p13.1
Brief Description  bolA family member 3
Description  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). [provided by RefSeq, Dec 2011]
  • synonyms:
  • bolA homolog 3 (E. coli),
  • uc002skc.2,
  • HGNC:24415,
  • MMDS2,
  • OTTHUMG00000152834,
  • BC017744,
  • bolA-like 3 (E. coli),
  • NM_212552,
  • BOLA3
  • identifiers:
  • 388962,
  • ENSG00000163170,
  • BOLA3

Genome feature

Region: gene ? Length: 12513  
Location: 2:74135400-74147912 reverse strand Cyto location: 2p13.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

672 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results