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This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的萨班斯法案的成员(SRY相关HMG盒)家族参与胚胎发育的调节,并在细胞命运的决心转录因子。所编码的蛋白质也可以在形成与其他蛋白质的蛋白复合物后充当转录调节。所编码的蛋白质可在软骨中发挥作用。该基因的假基因位于染色体编码不同的亚型已经确定该基因8的多个抄本变形。 [由RefSeq的,2008年7月提供]
SOX5基因(以及对应的蛋白质)的细胞分布位置:
SOX5基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Systemic Scleroderma | 0.122638474 | 1 | 1 | BeFree_GAD_GWASCAT |
Atrial Fibrillation | 0.12 | 1 | 0 | CTD_human |
Child Development Disorders, Pervasive | 0.12 | 1 | 0 | CTD_human |
Non-obstructive azoospermia | 0.12 | 1 | 1 | GWASCAT |
Tobacco Use Disorder | 0.004734064 | 2 | 0 | GAD |
Glioma | 0.00272435 | 1 | 0 | LHGDN |
Lymphoma, Follicular | 0.00272435 | 1 | 0 | LHGDN |
Seminoma | 0.00272435 | 1 | 0 | LHGDN |
Acquired Immunodeficiency Syndrome | 0.002367032 | 1 | 1 | GAD |
Azoospermia | 0.002367032 | 1 | 1 | GAD |
Electrocardiogram: P-R interval | 0.002367032 | 1 | 0 | GAD |
Dysmorphic features | 0.000814326 | 3 | 0 | BeFree |
Chronic Obstructive Airway Disease | 0.000542884 | 2 | 3 | BeFree |
Developmental delay (disorder) | 0.000542884 | 2 | 0 | BeFree |
Intellectual Disability | 0.000542884 | 2 | 0 | BeFree |
Asthma | 0.000271442 | 1 | 3 | BeFree |
Language Delay | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Oligospermia | 0.000271442 | 1 | 2 | BeFree |
Pituitary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Prostatic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Emphysema | 0.000271442 | 1 | 1 | BeFree |
Schizophrenia | 0.000271442 | 1 | 0 | BeFree |
Fibrillation | 0.000271442 | 1 | 0 | BeFree |
Speech Delay | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Neurodevelopmental Disorders | 0.000271442 | 1 | 0 | BeFree |
Azoospermia, Nonobstructive | 0.000271442 | 1 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
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