Homo sapiens Protein: PALB2
InnateDB Protein IDBP-20646.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PALB2
Protein Name partner and localizer of BRCA2
Species Homo sapiens
Ensembl Protein ENSP00000261584
InnateDB Gene IDBG-20644 (PALB2)
Protein Structure
UniProt Annotation
Function 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. {ECO:0000269PubMed:16793542, ECO:0000269PubMed:19369211, ECO:0000269PubMed:19423707, ECO:0000269PubMed:20871615, ECO:0000269PubMed:20871616, ECO:0000269PubMed:22941656, ECO:0000269PubMed:24141787, ECO:0000269PubMed:24485656}.
Subcellular Localization Nucleus {ECO:0000269PubMed:16793542}. Note=Colocalizes with BRCA2 in nuclear foci.
Disease Associations Breast cancer (BC) [MIM:114480]: 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. {ECO:0000269PubMed:17287723, ECO:0000269PubMed:22241545}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Breast cancer susceptibility is strongly associated with PALB2 truncating mutations. Conversely, rare missense mutations do not strongly influence breast cancer risk (PubMed:22241545). {ECO:0000269PubMed:22241545}.Fanconi anemia complementation group N (FANCN) [MIM:610832]: 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. {ECO:0000269PubMed:17200672}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pancreatic cancer 3 (PNCA3) [MIM:613348]: 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. {ECO:0000269PubMed:19264984}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Number of Interactions This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
Experimentally validated
Total 43 [view]
Protein-Protein 43 [view]
Protein-DNA 0
Protein-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
Biological Process
GO:0000724 double-strand break repair via homologous recombination
GO:0001756 somitogenesis
GO:0001833 inner cell mass cell proliferation
GO:0006281 DNA repair
GO:0007498 mesoderm development
GO:0009887 organ morphogenesis
GO:0036342 post-anal tail morphogenesis
GO:0043066 negative regulation of apoptotic process
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
Protein Structure and Domains
InterPro IPR017986 WD40-repeat-containing domain
Post-translational Modifications
SwissProt Q86YC2
PhosphoSite PhosphoSite-Q86YC2
UniProt Splice Variant
Entrez Gene 79728
UniGene Hs.444664
RefSeq NP_078951
OMIM 610355
HPRD 07966
EMBL AC008870 AK025469 AK097533 AL834425 BC044254 CH471145 CR749637
GenPept AAH44254 BAB15140 BAC05090 CAD39086 CAH18431 EAW55813