PDGFD (platelet derived growth factor D)
- symbol:
- PDGFD
- locus group:
- protein-coding gene
- location:
- 11q22.3
- gene_family:
- alias symbol:
- SCDGF-B|MSTP036|IEGF
- alias name:
- spinal cord derived growth factor B
- entrez id:
- 80310
- ensembl gene id:
- ENSG00000170962
- ucsc gene id:
- uc001php.4
- refseq accession:
- NM_025208
- hgnc_id:
- HGNC:30620
- approved reserved:
- 2004-01-22
PDGFD（血小板衍生生长因子D）属于血小板衍生生长因子（PDGF）家族，该家族包括PDGFA、PDGFB、PDGFC和PDGFD四个成员，它们通过激活受体酪氨酸激酶（PDGFRα和PDGFRβ）调控细胞增殖、迁移和存活。PDGFD以无活性形式分泌，需经蛋白水解激活才能结合PDGFRβ或PDGFRα/β异源二聚体，主要参与血管生成、组织修复和胚胎发育。其表达在成纤维细胞、平滑肌细胞和某些肿瘤细胞中显著。PDGFD突变可能导致功能丧失或异常激活，与纤维化疾病（如肺纤维化）、动脉粥样硬化和肿瘤（如胶质瘤、前列腺癌）相关。过表达会促进血管异常增生和肿瘤转移，而表达降低可能影响组织修复。PDGF家族共性为通过旁分泌或自分泌信号调控间充质细胞行为，并在病理条件下参与纤维化与癌症进展。研究PDGFD有助于开发针对上述疾病的靶向疗法。
The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是血小板衍生的生长因子家族的一个成员。这个家族的四名成员是间充质起源的细胞有丝分裂的因素和八个半胱氨酸，其中7个在这个因素中找到一个核心主题的特点。该基因产物仅形成同二聚体，因此，不与其它三个家族成员二聚化。它不同于这个家庭的α和β成员有一个不寻常的N端结构域，虎子域。两个剪接变体已被确定为这个基因。 [由RefSeq的，2008年7月提供]
基因本体信息
PDGFD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
PDGFD基因的本体（GO）信息：
| 名称 |
|---|
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4060 Cytokine-cytokine receptor interaction [PATH:hsa04060] |
| 4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 4540 Gap junction [PATH:hsa04540] |
| 5231 Choline metabolism in cancer [PATH:hsa05231] |
| 5218 Melanoma [PATH:hsa05218] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 名称 |
|---|
| Signaling by PDGF |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Coronary Artery Disease | 0.12 | 1 | 0 | CTD_human |
| Lung Injury | 0.12 | 1 | 0 | CTD_human |
| Fibrosis | 0.12 | 1 | 0 | CTD_human |
| Glomerulonephritis | 0.080271442 | 2 | 0 | BeFree_RGD |
| Liver Cirrhosis | 0.08 | 1 | 0 | RGD |
| Myocardial Infarction | 0.08 | 1 | 0 | RGD |
| Prostatic Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Cerebrovascular accident | 0.002909916 | 2 | 0 | BeFree_GAD |
| Pancreatic Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
| Diabetes Mellitus | 0.002638474 | 1 | 1 | BeFree_GAD |
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