H19 - H19 imprinted maternally expressed transcript Gene
Also Known as ASM; BWS; WT2; ASM1; D11S813E; MIR675HG; LINC00008; NCRNA00008
Species: Homo sapiens
About H19
This gene has 15 transcripts (splice variants), 1 gene allele and is associated with 7 phenotypes. Biased expression in placenta (RPKM 2773.7), adrenal (RPKM 234.1) and 2 other tissues.
Summary
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]
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Familial Wilms Tumor 2 |
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| Beckwith-Wiedemann Syndrome |
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| Wilms Tumor 2 |
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| Hemihyperplasia, Isolated |
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| Embryonal Carcinoma |
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| Choriocarcinoma |
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| Adenocarcinoma |
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| Pre-Eclampsia |
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| Hyperhomocysteinemia |
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| Keloid Disorder |
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| Pneumoconiosis |
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| Marek Disease |
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| Germ Cell Cancer |
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| Gestational Choriocarcinoma |
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| Trophoblastic Neoplasm |
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| Aortic Aneurysm, Familial Abdominal, 1 |
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| Mayer-Rokitansky-Kuster-Hauser Syndrome |
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| Hyperprolactinemia |
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| Wilms Tumor 1 |
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| Thyroid Carcinoma |
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| Endometriosis |
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| Adrenal Cortical Carcinoma |
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| Gestational Trophoblastic Neoplasm |
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| Central Nervous System Disease |
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| Ulcerative Colitis |
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| Gastric Cardia Adenocarcinoma |
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| Gastrointestinal System Cancer |
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| Myeloproliferative Neoplasm |
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| Hyperinsulinemic Hypoglycemia, Familial, 1 |
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| Infertility |
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| Hydatidiform Mole, Recurrent, 1 |
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| Osteoarthritis |
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| Polycythemia Vera |
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| Prader-Willi Syndrome |
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| Breast Adenocarcinoma |
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| Pituitary Adenoma |
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| Atherosclerosis Susceptibility |
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| Silver-Russell Syndrome 1 |
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| Gastric Adenocarcinoma |
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| Squamous Cell Carcinoma, Head And Neck |
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| Cervical Cancer |
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| Bladder Cancer |
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| Aortic Valve Disease 1 |
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| Squamous Cell Carcinoma |
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| Pheochromocytoma |
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| Neuroblastoma |
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| Neural Tube Defects |
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| Kidney Cancer |
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| Cholangiocarcinoma |
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| Laryngeal Squamous Cell Carcinoma |
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| Glioma |
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| Leukemia, Chronic Myeloid |
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| Thyroid Cancer, Nonmedullary, 1 |
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| Rheumatoid Arthritis |
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| Prostate Disease |
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| Lipoprotein Quantitative Trait Locus |
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| Ovarian Epithelial Cancer |
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| Meningioma, Familial |
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| Nasopharyngeal Carcinoma |
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| Glioblastoma |
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| Oral Squamous Cell Carcinoma |
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| Heart Disease |
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| Medulloblastoma |
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| Gallbladder Cancer |
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| Body Mass Index Quantitative Trait Locus 11 |
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| Pancreatic Ductal Adenocarcinoma |
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| Myeloma, Multiple |
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| Pancreatic Cancer |
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| Melanoma |
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| Parkinson Disease, Late-Onset |
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| Endometrial Cancer |
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| Silver-Russell Syndrome Due To An Imprinting Defect Of 11p15 |
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| Silver-Russell Syndrome Due To 11p15 Microduplication |
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| Beckwith-Wiedemann Syndrome Due To 11p15 Microdeletion |
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| Beckwith-Wiedemann Syndrome Due To Imprinting Defect Of 11p15 |
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| Hepatocellular Carcinoma |
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| Ovarian Cancer |
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| Osteogenic Sarcoma |
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| Esophageal Cancer |
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| Gastric Cancer |
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| High Grade Glioma |
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| Lung Cancer Susceptibility 3 |
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| Renal Cell Carcinoma, Nonpapillary |
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| Lung Cancer |
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| Colorectal Cancer |
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| Breast Cancer |
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| Prostate Cancer |
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| Childhood Germ Cell Cancer |
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| Hepatoblastoma |
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| Wilms Tumor 5 |
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| Fetal Macrosomia |
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| Atrial Septal Defect 4 |
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| Teratoma |
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| Umbilical Hernia |
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| Corneal Neovascularization |
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| Embryonal Rhabdomyosarcoma |
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| Rhabdomyosarcoma |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | H19 | MGD | MGI:95891 |
| Rattus norvegicus | H19 | RGD | RGD:2775 |