BOLA2 - bolA family member 2 Gene

Homo sapiens

Also known as My016; BOLA2A; BOLA2B

Gene ID: 552900 | Gene type: protein coding

About BOLA2

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:29,453,588-29,454,964 (from NCBI)

This gene has 2 transcripts (splice variants), 188 orthologues and 3 paralogues. Ubiquitous expression in duodenum (RPKM 26.2), small intestine (RPKM 23.0) and 25 other tissues.

Summary

This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2B (bolA family member 2B). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Related pseudogenes are found multiple different chromosomes. Alternative splicing results in multiple transcript variants. Transcripts initiating at this locus may extend into downstream SMG1 pseudogene 6 (SMG1P6) and encode fusion proteins with a C-terminus related to SMG1 phosphatidylinositol 3-kinase-related kinase. A readthrough locus is represented with GeneID:107282092. [provided by RefSeq, Feb 2016]

BOLA2 Products(2)

mRNA	Protein	Name
NM_001031827.3	NP_001026997.2	bolA-like protein 2 isoform 1
NM_001320579.1	NP_001307508.1	bolA-like protein 2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27519415	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in [2Fe-2S] cluster assembly	IDA IDA: Inferred from direct assay	27519415	GOA
involved in cell redox homeostasis	IDA IDA: Inferred from direct assay	27519415	GOA
involved in intracellular iron ion homeostasis	IDA IDA: Inferred from direct assay	27519415	GOA
involved in iron-sulfur cluster assembly	IDA IDA: Inferred from direct assay	27519415	GOA
involved in protein maturation by iron-sulfur cluster transfer	IDA IDA: Inferred from direct assay	27519415	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22746225	GOA
part of iron-sulfur cluster assembly complex	IPI IPI: Inferred from physical interaction	22309771	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22746225	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BOLA2 Protein Structure

BolA

0
100
152 a.a.

Protein Preferred Names

Protein Names

bolA-like protein 2

BolA-like protein 2 member A

BOLA2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	BOLA2	Q9H3K6	GLRX3	Homo sapiens	O76003	Anti Tag CoIP	27519415

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia

Multiple Mitochondrial Dysfunctions Syndrome 2	MMDS2
Bola3 Deficiency	Multiple Mitochondrial Dysfunctions Syndrome Type 2
Mitochondrial Dysfunctions Syndrome, Multiple, Type 2

Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunctions Syndrome	Fatal Multiple Mitochondrial Dysfunction Syndrome
Mmds	Multiple Mitochondrial Dysfunction Syndrome
Mitochondrial Dysfunctions, Multiple, Syndrome	Multiple Mitochondrial Dysfunctions Syndrome 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01573	BOLA2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01572	BOLA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	BOLA2	RGD	RGD:1565363
Mus musculus	BOLA2	MGD	MGI:1913412

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