KDM2B (lysine demethylase 2B)
- symbol:
- KDM2B
- locus group:
- protein-coding gene
- location:
- 12q24.31
- gene_family:
- Zinc fingers, CXXC-type|Lysine (K)-specific demethylases|F-box and leucine-rich repeat proteins
- alias symbol:
- PCCX2|CXXC2|Fbl10|JHDM1B
- alias name:
- jumonji C domain-containing histon…
- entrez id:
- 84678
- ensembl gene id:
- ENSG00000089094
- ucsc gene id:
- uc058uhq.1
- refseq accession:
- NM_032590
- hgnc_id:
- HGNC:13610
- approved reserved:
- 2004-01-06
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
该基因编码在F-box蛋白家族，其特征是一个约40个氨基酸基序，在F-盒的成员。在F-box蛋白组成四个亚基蛋白泛素连接酶复合体称为SCFS（SKP1-滞-F-箱）中的其中一个功能的磷酸化依赖泛素化。在F-box蛋白被分为3类：Fbws含WD-40结构域，含有Fbls富含亮氨酸的重复序列，以及含有任一不同的蛋白质 - 蛋白质相互作用的模块或没有可识别的图案Fbxs。由该基因编码的蛋白质属于Fbls类。多个可变剪接转录物变体已被发现对于此基因，但一些变体的全长性质尚未确定。 [由RefSeq的，2008年7月提供]
基因本体信息
KDM2B基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
KDM2B基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Schizophrenia | 0.12 | 1 | 0 | CTD_human |
| T-Cell Lymphoma | 0.08 | 1 | 0 | RGD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| CHARGE Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| leukemia | 0.000271442 | 1 | 0 | BeFree |
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