H19 Gene Summary [Human]
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]
Details
| Type | Long Non-Coding RNA |
| Official Symbol | H19 |
| Official Name | H19 imprinted maternally expressed transcript [Source:HGNC Symbol;Acc:HGNC:4713] |
| Ensembl ID | ENSG00000130600 |
| Bio databases IDs | |
| Aliases | H19 imprinted maternally expressed transcript, non-protein coding RNA 8, long intergenic non-protein coding RNA 8, MIR675 host gene, adult skeletal muscle |
| Synonyms | ASM, ASM1, BWS, D11S813E, EyeLinc6, H19 fetal liver, H19 foetal liver, H19 imprinted maternally expressed transcript, H19, imprinted maternally expressed transcript, LINC00008, MIR675HG, NCRNA00008, PRO2605, uc001lva.4, uc021qbz.1, WT2 |
| Species | Human, Homo sapiens |
| Orthologies |
Pathways
Biological processes and signaling networks where the H19 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- neoplasia
- lymphomagenesis
- cancer
- primary ovarian cancer
- esophageal adenocarcinoma
- esophageal carcinoma formation
- colorectal cancer
- epithelial cancer
- abdominal cancer
role in cell
- expression in
- proliferation
- apoptosis
- cell viability
- growth
- migration
- recruitment
- pyroptosis
- epithelial-mesenchymal transition
- S phase
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm