TNFSF11 (TNF superfamily member 11)
- symbol:
- TNFSF11
- locus group:
- protein-coding gene
- location:
- 13q14
- gene_family:
- CD molecules|Tumor necrosis factor (ligand) superfamily
- alias symbol:
- TRANCE|RANKL|OPGL|ODF|CD254
- alias name:
- None
- entrez id:
- 8600
- ensembl gene id:
- ENSG00000120659
- ucsc gene id:
- uc001uyu.3
- refseq accession:
- NM_003701
- hgnc_id:
- HGNC:11926
- approved reserved:
- 1998-12-04
This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]
该基因编码肿瘤坏死因子（TNF）细胞因子家族，其为骨和用作用于破骨细胞的分化及活化的关键因素的配位体中的一员。这种蛋白质被证明是一个树突状细胞存活因子，并参与T细胞依赖的免疫应答的调节。 T细胞活化据报道，诱导该基因和铅的表达增加破骨细胞和骨骼的损失。这种蛋白质被证明通过一个信号复合涉及SRC激酶和肿瘤坏死因子受体相关因子（TRAF）6，这表明该蛋白可能在细胞凋亡的调节作用来激活抗凋亡激酶AKT / PKB。在小鼠体内相关基因的靶向破坏导致严重的骨硬化症和缺乏破骨细胞。不足的小鼠表现出在T和B淋巴细胞的早期分化缺陷，未能在怀孕期间，以形成lobulo肺泡乳腺结构。两个可变剪接转录变异体已被发现。 [由RefSeq的，2008年7月提供]
基因本体信息
TNFSF11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
TNFSF11基因的本体（GO）信息：
| 名称 |
|---|
| 4064 NF-kappa B signaling pathway [PATH:hsa04064] |
| 4060 Cytokine-cytokine receptor interaction [PATH:hsa04060] |
| 4917 Prolactin signaling pathway [PATH:hsa04917] |
| 4380 Osteoclast differentiation [PATH:hsa04380] |
| 5323 Rheumatoid arthritis [PATH:hsa05323] |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Osteopetrosis, mild autosomal recessive form | 0.44 | 1 | 1 | CLINVAR_CTD_human_MGD_UNIPROT |
| Osteoporosis | 0.140984357 | 18 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Osteopetrosis | 0.125991584 | 4 | 0 | BeFree_CTD_human_LHGDN |
| Alveolar Bone Loss | 0.1254487 | 3 | 0 | CTD_human_LHGDN |
| Chronic Periodontitis | 0.123810118 | 6 | 2 | BeFree_CTD_human_LHGDN |
| Chronic Lymphocytic Leukemia | 0.122995792 | 2 | 0 | BeFree_CTD_human_LHGDN |
| Hypercalcemia | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Infantile malignant osteopetrosis | 0.12 | 0 | 0 | ORPHANET |
| Lytic lesion | 0.12 | 1 | 0 | CTD_human |
| Myocarditis | 0.08 | 1 | 0 | RGD |
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