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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 (BolA Family Member 2) is a Protein Coding gene. Diseases associated with BOLA2 include Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia and Multiple Mitochondrial Dysfunctions Syndrome. An important paralog of this gene is BOLA2B.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH16J029453 | Promoter/Enhancer | 0.8 | EPDnew Ensembl dbSUPER | 600.7 | +0.4 | 363 | 3.2 | BOLA2 BOLA2-SMG1P6 SLX1B SLX1B-SULT1A4 lnc-BOLA2-1 | ||
GH16J030192 | Promoter/Enhancer | 0.8 | EPDnew Ensembl dbSUPER | 600 | -738.8 | -738837 | 3.2 | BOLA2B SLX1A SLX1A-SULT1A3 lnc-NPIPB13-1 BOLA2 CORO1A | ||
GH16J029456 | Promoter/Enhancer | 0.5 | Ensembl dbSUPER | 600.7 | -1.5 | -1537 | 0.2 | BOLA2 BOLA2-SMG1P6 SLX1B SLX1B-SULT1A4 SULT1A4 | ||
GH16J030149 | Enhancer | 0.8 | Ensembl | 12.7 | -695.5 | -695536 | 9.4 | ATF7 ZNF776 RXRB SCRT2 RBAK ZNF140 CBX3 POLR2A ZNF266 CREB1 | SETD1A SRCAP NPIPB12 NPIPB13 SMG1P5 INO80E SMG1P2 ENSG00000198106 ZNF764 ZNF747 | |
GH16J030159 | Enhancer | 0.5 | Ensembl | 14.9 | -704.5 | -704537 | 1 | PRDM10 NFIC ZFP3 NFIA ZNF664 ZBTB33 KLF1 L3MBTL2 | BOLA2 RF00017-2046 piR-55655-210 CORO1A MAPK3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 27519415 |
GO:0051536 | iron-sulfur cluster binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 22746225 |
GO:0005737 | cytoplasm | IEA,IDA | 22746225 |
GO:0005829 | cytosol | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006879 | cellular iron ion homeostasis | IBA | 21873635 |
GO:0035722 | interleukin-12-mediated signaling pathway | TAS | -- |
GO:0044571 | [2Fe-2S] cluster assembly | IDA | 27519415 |
GO:0097428 | protein maturation by iron-sulfur cluster transfer | IDA | 27519415 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | -- 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Bola2 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | LOC100363408 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | BOLA2B 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG33672 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BOL2 33 |
|
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1515e59 | CNV | duplication | 20981092 |
esv22245 | CNV | gain | 19812545 |
esv2714183 | CNV | deletion | 23290073 |
esv2758641 | CNV | gain | 17122850 |
esv2758642 | CNV | gain | 17122850 |
esv29892 | CNV | gain | 19812545 |
esv3333204 | CNV | duplication | 20981092 |
esv3388213 | CNV | duplication | 20981092 |
nsv1056249 | CNV | gain | 25217958 |
nsv1078392 | CNV | duplication | 25765185 |
nsv1078393 | CNV | duplication | 25765185 |
nsv1139652 | CNV | duplication | 24896259 |
nsv1141284 | CNV | duplication | 24896259 |
nsv1146152 | CNV | duplication | 26484159 |
nsv1150245 | CNV | duplication | 26484159 |
nsv471387 | CNV | gain | 19718026 |
nsv471388 | CNV | gain | 19718026 |
nsv498862 | CNV | loss | 21111241 |
nsv571809 | CNV | loss | 21841781 |
nsv571810 | CNV | loss | 21841781 |
nsv571819 | CNV | gain | 21841781 |
nsv820959 | CNV | duplication | 20802225 |
nsv821543 | CNV | duplication | 20802225 |
nsv9426 | CNV | gain | 18304495 |
nsv9431 | CNV | gain+loss | 18304495 |
nsv960011 | CNV | duplication | 23825009 |
nsv978130 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia |
|
|
multiple mitochondrial dysfunctions syndrome |
|
|