PALB2 Gene: Partner and Localizer of BRCA2
A key tumor suppressor in DNA repair and breast cancer susceptibility
Gene Information Card
| Symbol | PALB2 |
|---|---|
| Full Name | Partner and localizer of BRCA2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 79728 ncbi.nlm.nih.gov/gene/79728 |
| Ensembl ID | ENSG00000183087 |
| UniProt ID | Q86YC2 |
| OMIM ID | 610355 |
| HGNC ID | 26144 |
| Aliases | FANCN, FLJ21816, MGC83180 |
Description
PALB2 (Partner and localizer of BRCA2) encodes a protein that functions as a key scaffold in the homologous recombination DNA repair pathway. It directly binds to BRCA2 and RAD51, facilitating the localization and stability of BRCA2 at DNA damage sites. Biallelic mutations in PALB2 cause Fanconi anemia complementation group N, while monoallelic mutations confer increased risk for breast, pancreatic, and ovarian cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss-of-function mutations impair homologous recombination repair, leading to genomic instability and tumorigenesis | ClinVar, OMIM |
| Fanconi anemia complementation group N | Biallelic mutations disrupt DNA interstrand crosslink repair, causing bone marrow failure and developmental abnormalities | OMIM, NCBI |
| Pancreatic cancer | Germline PALB2 mutations increase susceptibility to pancreatic ductal adenocarcinoma | ClinVar, COSMIC |
| Ovarian cancer | Monoallelic pathogenic variants elevate risk for high-grade serous ovarian carcinoma | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 8.2 | Low |
| Ovary | 6.5 | Low |
| Pancreas | 5.1 | Low |
| Testis | 12.3 | Medium |
| Bone marrow | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 9.8 | Moderate expression |
| HeLa (cervical cancer) | 7.4 | Low expression |
| HCT116 (colorectal cancer) | 6.1 | Low expression |
| K562 (leukemia) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3113G>A (p.Trp1038*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1592delT (p.Leu531Cysfs*2) | Frameshift deletion | Rare | Loss of function; premature stop codon |
| c.2323C>T (p.Gln775*) | Nonsense | Rare | Loss of function; truncation |
| c.1240C>T (p.Arg414Cys) | Missense | Rare | Uncertain significance; potential impact on BRCA2 binding |
Mutation functional classification
Loss of Function (LOF)
Most PALB2 pathogenic variants are loss-of-function, including nonsense, frameshift, and splice-site mutations that lead to truncated or unstable protein, impairing homologous recombination repair.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PALB2.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by disrupting protein-protein interactions with BRCA2 or RAD51, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000724 - double-strand break repair via homologous recombination | • GO:0005515 - protein binding |
| • GO:0032508 - DNA duplex unwinding | • GO:0043001 - Golgi apparatus |
| • GO:0005654 - nucleoplasm |
Pathways
• Homologous recombination repair (Reactome: R-HSA-5693571)
• Fanconi anemia pathway (Reactome: R-HSA-6783310)
• BRCA2-PALB2-RAD51 complex assembly (Reactome: R-HSA-5693606)
Protein Summary
The PALB2 protein (UniProt Q86YC2) is a 1186-amino acid nuclear protein that acts as a molecular scaffold. It contains an N-terminal coiled-coil domain for BRCA1 interaction, a central WD40 domain for RAD51 binding, and a C-terminal region that binds BRCA2. PALB2 stabilizes BRCA2 and recruits it to sites of DNA damage, enabling RAD51-mediated homologous recombination. Loss of PALB2 function leads to defective DNA repair and genomic instability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PALB2 Knockout HEK293 Cell Line | EDJ-KQ17891 | Human | 79728 | Details Get a Quote |
| PALB2 Knockout HeLa Cell Line | EDJ-KQ57213 | Human | 79728 | Details Get a Quote |
| PALB2 Knockout A-549 Cell Line | EDJ-KQ65728 | Human | 79728 | Details Get a Quote |
| PALB2 Knockout HCT 116 Cell Line | EDJ-KQ74145 | Human | 79728 | Details Get a Quote |
| PALB2 Knockout BT-549 Cell Line | EDC90026 | Human | 79728 | Details Get a Quote |
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