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  3. PALB2

PALB2 (Partner and localizer of BRCA2)

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The Function of PALB2

Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair. Essential partner of BRCA2 that promotes the localization and stability of BRCA2. Also enables its recombinational repair and checkpoint functions of BRCA2. May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation. Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity.

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Protein names

Recommended name:

Partner and localizer of BRCA2

PALB2 SNPs

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  1. RS16940342 (PALB2) ??
  2. RS249954 (PALB2) ??
  3. RS420259 (PALB2) ??
  4. RS447529 (PALB2) ??

Top Gene-Substance Interactions

Substances That Increase PALB2

Substances Interaction Organism Category

Substances That Decrease PALB2

Substances Interaction Organism Category

Advanced Summary

     Covered on Genetics Home Reference: Fanconi anemiaovarian cancerbreast cancerFrom NCBI Gene: Tracheoesophageal fistulaPancreatic cancer 3Familial cancer of breastFanconi anemia, complementation group NFrom UniProt: Breast cancer (BC): A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. [MIM:114480] Fanconi anemia complementation group N (FANCN): A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. [MIM:610832] Pancreatic cancer 3 (PNCA3): A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. [MIM:613348]

     From NCBI Gene: 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] From UniProt: Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair. Essential partner of BRCA2 that promotes the localization and stability of BRCA2. Also enables its recombinational repair and checkpoint functions of BRCA2. May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation. Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-kappaB
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3
  • NF-kappaB1
  • STAT1beta
  • STAT2
  • STAT4
  • RelA

Gene Pathways:

  • DNA Repair

Molecular Function:

  • Dna Binding

Biological Processes:

  • Animal Organ Morphogenesis
  • Chromosome Breakage
  • Dna Synthesis Involved In Dna Repair
  • Double-Strand Break Repair Via Homologous Recombination
  • Embryonic Organ Development
  • Inner Cell Mass Cell Proliferation
  • Mesoderm Development
  • Multicellular Organism Growth
  • Negative Regulation Of Apoptotic Process
  • Post-Anal Tail Morphogenesis
  • Somitogenesis
  • Strand Displacement
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa| A306_04811| Acyl carrier protein, mitochondrial| AS27_12378| AS28_03854| complementation group N| D623_10009007| Fancn| Fanconi anemia| Fanconi N| I79_024931| M91_11027| N300_14218| N301_13403| N302_11727| N303_06601| N305_14963| N306_04191| N307_01572| N308_13136| N309_02379| N310_00477| N311_08362| N312_00456| N320_05330| N321_09826| N324_12756| N325_07874| N326_08230| N327_07500| N328_10339| N329_10432| N330_05923| N332_00356| N333_00120| N334_05839| N335_00341| N339_08475| N340_05355| N341_10874| NDUFAB1| PAL_GLEAN10004946| PANDA_016278| PNCA3| RGD1304759| TREES_T100007626| Z169_14793| palb2

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