2. Gene
  3. BOLA2 - bolA family member 2 Gene

BOLA2 - bolA family member 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：bolA 家族成员 2

种属: Homo sapiens

同用名: My016; BOLA2A; BOLA2B

基因 ID: 552900 | 基因类型: protein coding

关于 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.

功能概要

该基因位于 16 号染色体上的片段复制区域内，与 BOLA2B (bolA 家族成员 2B) 相同。该基因的产物属于广泛保守的蛋白质家族，可能参与铁的成熟。相关的假基因被发现在多个不同的染色体上。可变剪接导致多个转录本变体。起始于该基因座的转录本可能延伸到下游 SMG1 假基因 6 (SMG1P6) ，并编码具有与 SMG1 磷脂酰肌醇 3-激酶相关激酶相关的 C 末端的融合蛋白。通读基因座用 GeneID:107282092 表示。[RefSeq 提供，2016 年 2 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
27519415 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in [2Fe-2S] cluster assembly IDA
IDA: 通过直接分析推断
27519415 GOA
involved in cell redox homeostasis IDA
IDA: 通过直接分析推断
27519415 GOA
involved in intracellular iron ion homeostasis IDA
IDA: 通过直接分析推断
27519415 GOA
involved in iron-sulfur cluster assembly IDA
IDA: 通过直接分析推断
27519415 GOA
involved in protein maturation by iron-sulfur cluster transfer IDA
IDA: 通过直接分析推断
27519415 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
22746225 GOA
part of iron-sulfur cluster assembly complex IPI
IPI: 通过物理相互作用推断
22309771 GOA
located in nucleus IDA
IDA: 通过直接分析推断
22746225 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

BOLA2 蛋白结构

BolA

BolA: BolA-like protein (77 - 146)

  • 0
  • 100
  • 152 a.a.
蛋白主名 其他名称

bolA-like protein 2

BolA-like protein 2 member A

BOLA2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
BOLA2 Q9H3K6 GLRX3 Homo sapiens O76003
Anti Tag CoIP
27519415
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01573 BOLA2B Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS01572 BOLA2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus BOLA2 RGD RGD:1565363
Mus musculus BOLA2 MGD MGI:1913412
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