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This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome. The product of this gene is a long non-coding RNA which functions as a tumor suppressor. Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
[中文简述(自动翻译):]  该基因位于胰岛素样生长因子2(IGF2)基因邻近的染色体11的压印区域。该基因只从母系遗传染色体表达,而IGF2仅从父系继承染色体表达。这个基因的产物是一个长的非编码RNA,其功能作为肿瘤抑制基因。该基因突变与威思 - 威德曼综合征和肾母细胞肿瘤发生有关。选择性剪接结果在多个抄本变形。 [由RefSeq的,2015年4月提供]
H19基因(以及对应的蛋白质)的细胞分布位置:
H19基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Beckwith-Wiedemann Syndrome | 0.253059004 | 21 | 0 | BeFree_CLINVAR_CTD_human_LHGDN |
| Russell-Silver syndrome | 0.122985861 | 12 | 0 | BeFree_CTD_human |
| Nephroblastoma | 0.121357209 | 5 | 0 | BeFree_ORPHANET |
| Hepatitis, Animal | 0.12 | 1 | 0 | CTD_human |
| Liver Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
| Congenital hemihypertrophy | 0.12 | 0 | 0 | ORPHANET |
| Familial Wilms tumor 2 | 0.12 | 0 | 0 | CTD_human |
| Malignant neoplasm of breast | 0.008186863 | 7 | 1 | BeFree_GAD |
| Bladder Neoplasm | 0.005720142 | 2 | 0 | BeFree_LHGDN |
| Liver carcinoma | 0.003810118 | 5 | 0 | BeFree_LHGDN |
| Mammary Neoplasms | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Malignant neoplasm of urinary bladder | 0.003181358 | 3 | 0 | BeFree_GAD |
| Squamous cell carcinoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Congenital Abnormality | 0.00272435 | 1 | 0 | LHGDN |
| Rheumatoid Arthritis | 0.00272435 | 1 | 0 | LHGDN |
| Myeloproliferative disease | 0.00272435 | 1 | 0 | LHGDN |
| Ovarian Failure, Premature | 0.00272435 | 1 | 0 | LHGDN |
| Angiofibroma | 0.00272435 | 1 | 0 | LHGDN |
| Infection | 0.00272435 | 1 | 0 | LHGDN |
| Spontaneous abortion | 0.002367032 | 1 | 0 | GAD |
| Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
| Pregnancy loss | 0.002367032 | 1 | 0 | GAD |
| Niemann-Pick Diseases | 0.001900093 | 7 | 0 | BeFree |
| Breast Carcinoma | 0.001628651 | 6 | 1 | BeFree |
| Carcinoma of bladder | 0.001628651 | 6 | 0 | BeFree |
| Diphtheria | 0.000814326 | 3 | 0 | BeFree |
| Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
| Rhabdomyosarcoma | 0.000814326 | 3 | 0 | BeFree |
| Germ cell tumor | 0.000814326 | 3 | 0 | BeFree |
| Secondary malignant neoplasm of liver | 0.000814326 | 3 | 0 | BeFree |
| Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
| Choriocarcinoma | 0.000542884 | 2 | 0 | BeFree |
| Embryonal Neoplasm | 0.000542884 | 2 | 0 | BeFree |
| Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
| Hepatoblastoma | 0.000542884 | 2 | 0 | BeFree |
| Adrenal Cortical Adenoma | 0.000542884 | 2 | 0 | BeFree |
| Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
| Complete hydatidiform mole | 0.000542884 | 2 | 0 | BeFree |
| Gestational trophoblastic disease | 0.000542884 | 2 | 0 | BeFree |
| Adenoma | 0.000271442 | 1 | 0 | BeFree |
| Adrenal gland hypofunction | 0.000271442 | 1 | 0 | BeFree |
| Asthma | 0.000271442 | 1 | 0 | BeFree |
| beta Thalassemia | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Diabetic Retinopathy | 0.000271442 | 1 | 0 | BeFree |
| Eclampsia | 0.000271442 | 1 | 0 | BeFree |
| Gigantism | 0.000271442 | 1 | 0 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| Klippel-Trenaunay-Weber Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Fibroid Tumor | 0.000271442 | 1 | 0 | BeFree |
| Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Chronic Obstructive Airway Disease | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
| Chloasma | 0.000271442 | 1 | 0 | BeFree |
| Inborn Errors of Metabolism | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Prader-Willi Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Schizoaffective Disorder | 0.000271442 | 1 | 0 | BeFree |
| Seminoma | 0.000271442 | 1 | 0 | BeFree |
| Dermatologic disorders | 0.000271442 | 1 | 0 | BeFree |
| Uterine Fibroids | 0.000271442 | 1 | 0 | BeFree |
| Lysosomal Storage Diseases | 0.000271442 | 1 | 0 | BeFree |
| Recurrent major depressive episodes | 0.000271442 | 1 | 0 | BeFree |
| Teratocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Adrenocortical carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Rhabdoid Tumor | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Bipolar II disorder | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Niemann-Pick Disease, Type B | 0.000271442 | 1 | 0 | BeFree |
| Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Adrenal cortical hypofunction | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
| Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Adult Acute Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Bipolar I disorder | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
| Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
| Skin Pigmentation Disorder | 0.000271442 | 1 | 0 | BeFree |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies | 0.000271442 | 1 | 0 | BeFree |
| HEMIHYPERPLASIA, ISOLATED | 0.000271442 | 1 | 0 | BeFree |
| Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Overgrowth Syndrome | 0.000271442 | 1 | 0 | BeFree |
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