PALB2 Gene Summary [Human]
This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PALB2 |
| Official Name | partner and localizer of BRCA2 [Source:HGNC Symbol;Acc:HGNC:26144] |
| Ensembl ID | ENSG00000083093 |
| Bio databases IDs | |
| Aliases | partner and localizer of BRCA2, Fanconi anemia, complementation group N |
| Synonyms | 4732427B05, BROVCA5, FANCN, FLJ21816, partner and localizer of BRCA2, PNCA3, RGD1304759 |
| 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 PALB2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Partner and localizer of BRCA2 WD40 domain
- coiled-coil domain
- protein binding
- DNA binding
Pathways
Biological processes and signaling networks where the PALB2 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
- renal cancer
- hereditary cancer-predisposing syndrome
- Fanconi anemia group N
- familial breast cancer
- hereditary breast and/or ovarian cancer
- susceptibility to pancreatic cancer
- breast or ovarian cancer
- susceptibility to familial breast-ovarian cancer type 5
- PALB2-related disorder
- metastasis-free survival
role in cell
- apoptosis
- formation
- growth
- phosphorylation in
- survival
- formation in
- homologous recombination in
- synapsis
- synapsis in
- meiosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PALB2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- inner cell mass cell proliferation
- somitogenesis
- negative regulation of apoptotic process
- apoptotic process
- mesoderm development
- double-strand break repair via homologous recombination
- embryonic organ development
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear speck
- macromolecular complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding