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This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的SWI / SNF家族,其成员具有解旋酶和ATP酶活性,并且被认为通过改变周围那些基因的染色质结构调节某些基因的转录的成员。所编码的蛋白质是大ATP依赖的染色质重塑复合SNF / SW I,这是需要的基因的转录活化通常通过染色质压抑的一部分。它具有至少两个保守结构域可能是它的功能是重要的。第一,它具有可以特异性结合已知由在β-珠蛋白基因座的SNF / SWI复杂识别一个富含AT的DNA序列的DNA结合结构域。第二,该蛋白质的C-末端可刺激糖皮质激素受体依赖性转录激活。据认为,由该基因编码的蛋白质赋予特异性的SNF / SWI复杂,可能通过两种蛋白质-DNA或蛋白 - 蛋白相互作用招募复到它的目标。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2008年7月提供]
ARID1A基因(以及对应的蛋白质)的细胞分布位置:
ARID1A基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Coffin-Siris syndrome | 0.240271442 | 2 | 0 | BeFree_CTD_human_ORPHANET |
Adenocarcinoma | 0.123267234 | 3 | 0 | BeFree_CTD_human_LHGDN |
Burkitt Lymphoma | 0.120542884 | 2 | 0 | BeFree_CTD_human |
Adenocarcinoma Of Esophagus | 0.120542884 | 2 | 0 | BeFree_CTD_human |
Bladder Neoplasm | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Carcinoma, Transitional Cell | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Neuroblastoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Cholangiocarcinoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Adenoid Cystic Carcinoma | 0.12 | 1 | 0 | CTD_human |
Endometrial Neoplasms | 0.12 | 1 | 0 | CTD_human |
Sezary Syndrome | 0.12 | 1 | 0 | CTD_human |
Stomach Neoplasms | 0.12 | 3 | 0 | CTD_human |
T-Cell Lymphoma | 0.12 | 1 | 0 | CTD_human |
Lymphoma, T-Cell, Cutaneous | 0.12 | 1 | 0 | CTD_human |
Microsatellite Instability | 0.12 | 1 | 0 | CTD_human |
Liver carcinoma | 0.12 | 3 | 0 | CTD_human |
Nasopharyngeal carcinoma | 0.12 | 1 | 0 | CTD_human |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 | 0.12 | 0 | 5 | CLINVAR |
Endometriosis | 0.003257302 | 12 | 0 | BeFree |
Adenocarcinoma, Clear Cell | 0.002985861 | 11 | 0 | BeFree |
Carcinoma, Endometrioid | 0.002985861 | 11 | 0 | BeFree |
Renal Cell Carcinoma | 0.00272435 | 1 | 0 | LHGDN |
leukemia | 0.00272435 | 1 | 0 | LHGDN |
Ovarian Carcinoma | 0.002714419 | 10 | 0 | BeFree |
Malignant neoplasm of stomach | 0.002442977 | 9 | 0 | BeFree |
Endometrial Carcinoma | 0.002171535 | 8 | 0 | BeFree |
Carcinogenesis | 0.002171535 | 8 | 0 | BeFree |
Stomach Carcinoma | 0.002171535 | 8 | 0 | BeFree |
Malignant neoplasm of ovary | 0.001900093 | 7 | 0 | BeFree |
Malignant neoplasm of breast | 0.001357209 | 5 | 0 | BeFree |
Turcot syndrome (disorder) | 0.001085767 | 4 | 0 | BeFree |
Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of endometrium | 0.000814326 | 3 | 0 | BeFree |
Cervix carcinoma | 0.000814326 | 3 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000814326 | 3 | 0 | BeFree |
Hereditary Nonpolyposis Colorectal Cancer | 0.000814326 | 3 | 0 | BeFree |
Uterine Corpus Cancer | 0.000814326 | 3 | 0 | BeFree |
Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant tumor of cervix | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Lymphoma, Follicular | 0.000542884 | 2 | 0 | BeFree |
Diffuse Large B-Cell Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Adenosquamous carcinoma | 0.000542884 | 2 | 0 | BeFree |
Conventional (Clear Cell) Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Endometrial Clear Cell Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Atypical Endometrial Hyperplasia | 0.000542884 | 2 | 0 | BeFree |
ovarian neoplasm | 0.000542884 | 2 | 0 | BeFree |
Adenofibroma | 0.000271442 | 1 | 0 | BeFree |
Mucinous Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Uterine Cervical Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Endometrial Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Gastritis | 0.000271442 | 1 | 0 | BeFree |
Cardiac Arrest | 0.000271442 | 1 | 0 | BeFree |
Heart failure | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Lymphogranuloma Venereum | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Meningioma | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
B-Cell Lymphomas | 0.000271442 | 1 | 0 | BeFree |
Epstein-Barr Virus Infections | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
Sarcoma, Epithelioid | 0.000271442 | 1 | 0 | BeFree |
Endometrial Stromal Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Cervical Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
Neuroendocrine Tumors | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of penis | 0.000271442 | 1 | 0 | BeFree |
Myelokathexis | 0.000271442 | 1 | 1 | BeFree |
Gastric Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant Childhood Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
Squamous intraepithelial lesion | 0.000271442 | 1 | 0 | BeFree |
High-Grade Squamous Intraepithelial Lesions | 0.000271442 | 1 | 0 | BeFree |
Cystadenofibroma | 0.000271442 | 1 | 0 | BeFree |
Endometrioid carcinoma ovary | 0.000271442 | 1 | 0 | BeFree |
Cervical Adenosquamous Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of kidney | 0.000271442 | 1 | 0 | BeFree |
Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
Rhabdoid Tumor of the Kidney | 0.000271442 | 1 | 0 | BeFree |
Ductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Complex atypical endometrial hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Endometrial Endometrioid Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Ovarian Clear Cell Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma, Endometrioid | 0.000271442 | 1 | 0 | BeFree |
Meningioma, benign, no ICD-O subtype | 0.000271442 | 1 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
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