PHLDA2 Gene Summary [Human]
This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010]
Details
| Type | Protein Coding |
| Official Symbol | PHLDA2 |
| Official Name | pleckstrin homology like domain family A member 2 [Source:HGNC Symbol;Acc:HGNC:12385] |
| Ensembl ID | ENSG00000181649 |
| Bio databases IDs | |
| Aliases | pleckstrin homology like domain family A member 2 |
| Synonyms | BRW1C, BWR1C, HLDA2, IPL, pleckstrin homology like domain family A member 2, pleckstrin homology-like domain, family A, member 2, TSSC3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PHLDA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PH domain
- protein binding
- Pleckstrin homology-like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- tumorigenesis
- uterine leiomyoma
- leiomyomatosis
role in cell
- expression in
- migration
- apoptosis
- growth
- activation in
- survival
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHLDA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of apoptotic process
- apoptotic process
- regulation of gene expression
- regulation of embryonic development
- regulation of glycogen metabolic process
- regulation of cell migration
- placenta development
- regulation of spongiotrophoblast cell proliferation
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
Molecular Function
What the gene product does at the molecular level
- protein binding