PALB2
entrez
79728
canonical
uniprot
Q86YC2
canonical
ensembl
ENSG00000083093
resolver
ensp
ENSP00000261584
resolver
ensp
ENSP00000454703
resolver
ensp
ENSP00000459237
resolver
ensp
ENSP00000513284
resolver
ensp
ENSP00000513285
resolver
ensp
ENSP00000513289
resolver
ensp
ENSP00000519076
resolver
ensp
ENSP00000586308
resolver
ensp
ENSP00000586309
resolver
ensp
ENSP00000640450
resolver
enst
ENST00000261584
resolver
enst
ENST00000566069
resolver
enst
ENST00000568219
resolver
enst
ENST00000697374
resolver
enst
ENST00000697376
resolver
enst
ENST00000697383
resolver
enst
ENST00000713774
resolver
genesymbol
PALB2
resolver
genesymbol_syn
FANCN
resolver
hgnc
HGNC:26144
resolver
uniprot
A0A8V8TLC8
resolver
uniprot
A0A8V8TMK8
resolver
uniprot
A0AAQ5BGU0
resolver
uniprot
A6NIE1
resolver
uniprot
H3BN63
resolver
uniprot
I3L1Z5
resolver
uniprot
I3L3R6
resolver
uniprot
Q8N7Y6
resolver
uniprot
Q8ND31
resolver
uniprot
Q9H6W1
resolver
uniprot_entry
A0A8V8TLC8_HUMAN
resolver
uniprot_entry
A0A8V8TMK8_HUMAN
resolver
uniprot_entry
A0AAQ5BGU0_HUMAN
resolver
uniprot_entry
H3BN63_HUMAN
resolver
uniprot_entry
I3L1Z5_HUMAN
resolver
uniprot_entry
PALB2_HUMAN
resolver
uniprot_sec
A6NIE1
resolver
uniprot_sec
I3L3R6
resolver
uniprot_sec
Q8N7Y6
resolver
uniprot_sec
Q8ND31
resolver
uniprot_sec
Q9H6W1
resolver
amino_acid_sequence
MDEPPGKPLSCEEKEKLKEKLAFLKREYSKTLARLQRAQRAEKIKHSIKKTVEEQDCLSQQDLSPQLKHSEPKNKICVYDKLHIKTHLDEETGEKTSITLDVGPESFNPGDGPGGLPIQRTDDTQEHFPHRVSDPSGEQKQKLPSRRKKQQKRTFISQERDCVFGTDSLRLSGKRLKEQEEISSKNPARSPVTEIRTHLLSLKSELPDSPEPVTEINEDSVLIPPTAQPEKGVDTFLRRPNFTRATTVPLQTLSDSGSSQHLEHIPPKGSSELTTHDLKNIRFTSPVSLEAQGKKMTVSTDNLLVNKAISKSGQLPTSSNLEANISCSLNELTYNNLPANENQNLKEQNQTEKSLKSPSDTLDGRNENLQESEILSQPKSLSLEATSPLSAEKHSCTVPEGLLFPAEYYVRTTRSMSNCQRKVAVEAVIQSHLDVKKKGFKNKNKDASKNLNLSNEETDQSEIRMSGTCTGQPSSRTSQKLLSLTKVSSPAGPTEDNDLSRKAVAQAPGRRYTGKRKSACTPASDHCEPLLPTSSLSIVNRSKEEVTSHKYQHEKLFIQVKGKKSRHQKEDSLSWSNSAYLSLDDDAFTAPFHRDGMLSLKQLLSFLSITDFQLPDEDFGPLKLEKVKSCSEKPVEPFESKMFGERHLKEGSCIFPEELSPKRMDTEMEDLEEDLIVLPGKSHPKRPNSQSQHTKTGLSSSILLYTPLNTVAPDDNDRPTTDMCSPAFPILGTTPAFGPQGSYEKASTEVAGRTCCTPQLAHLKDSVCLASDTKQFDSSGSPAKPHTTLQVSGRQGQPTCDCDSVPPGTPPPIESFTFKENQLCRNTCQELHKHSVEQTETAELPASDSINPGNLQLVSELKNPSGSCSVDVSAMFWERAGCKEPCIITACEDVVSLWKALDAWQWEKLYTWHFAEVPVLQIVPVPDVYNLVCVALGNLEIREIRALFCSSDDESEKQVLLKSGNIKAVLGLTKRRLVSSSGTLSDQQVEVMTFAEDGGGKENQFLMPPEETILTFAEVQGMQEALLGTTIMNNIVIWNLKTGQLLKKMHIDDSYQASVCHKAYSEMGLLFIVLSHPCAKESESLRSPVFQLIVINPKTTLSVGVMLYCLPPGQAGRFLEGDVKDHCAAAILTSGTIAIWDLLLGQCTALLPPVSDQHWSFVKWSGTDSHLLAGQKDGNIFVYHYS
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:17287723, ECO:0000269|PubMed:22241545, ECO:0000269|PubMed:28319063}. Note=Disease susceptibility is associated with variants 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:0000269|PubMed:22241545}.; DISEASE: 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:0000269|PubMed:17200671, ECO:0000269|PubMed:17200672}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:19264984}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Breast-ovarian cancer, familial, 5 (BROVCA5) [MIM:620442]: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. {ECO:0000269|PubMed:17200668, ECO:0000269|PubMed:18053174, ECO:0000269|PubMed:23448497, ECO:0000269|PubMed:24556926, ECO:0000269|PubMed:31841383}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks (PubMed:16793542, PubMed:19369211, PubMed:19423707, PubMed:22941656, PubMed:24141787, PubMed:28319063). 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) (PubMed:20871615). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51 (PubMed:20871616). Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination (PubMed:19369211). 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 (PubMed:24141787). Essential partner of BRCA2 that promotes the localization and stability of BRCA2 (PubMed:16793542). Also enables its recombinational repair and checkpoint functions of BRCA2 (PubMed:16793542). May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation (PubMed:16793542). Binds DNA with high affinity for D loop, which comprises single-stranded, double-stranded and branched DNA structures (PubMed:20871616). 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 (PubMed:24485656). {ECO:0000269|PubMed:16793542, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:19423707, ECO:0000269|PubMed:20871615, ECO:0000269|PubMed:20871616, ECO:0000269|PubMed:22941656, ECO:0000269|PubMed:24141787, ECO:0000269|PubMed:24485656, ECO:0000269|PubMed:28319063}.
uniprot
proteins
mass_dalton
131295
uniprot
proteins
mutagenesis
MUTAGEN 14; /note="K->A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2."; /evidence="ECO:0000269|PubMed:19369211"; MUTAGEN 21; /note="L->A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2."; /evidence="ECO:0000269|PubMed:19369211"; MUTAGEN 28; /note="Y->A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2."; /evidence="ECO:0000269|PubMed:19369211"; MUTAGEN 35; /note="L->A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2."; /evidence="ECO:0000269|PubMed:19369211"; MUTAGEN 42; /note="E->A: Loss of interaction with BRCA1 but no effect on interaction with BRCA2."; /evidence="ECO:0000269|PubMed:19369211"; MUTAGEN 1030; /note="T->I: Unstable and promotes protein degradation; reduces interaction with RAD51C and RAD51."; /evidence="ECO:0000269|PubMed:24141787
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16793542
uniprot
proteins
pubmed
17200668
uniprot
proteins
pubmed
17200671
uniprot
proteins
pubmed
17200672
uniprot
proteins
pubmed
17287723
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18053174
uniprot
proteins
pubmed
18987736
uniprot
proteins
pubmed
19264984
uniprot
proteins
pubmed
19369211
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19423707
uniprot
proteins
pubmed
19609323
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20332121
uniprot
proteins
pubmed
20871615
uniprot
proteins
pubmed
20871616
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21618343
uniprot
proteins
pubmed
22193777
uniprot
proteins
pubmed
22241545
uniprot
proteins
pubmed
22941656
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23448497
uniprot
proteins
pubmed
24141787
uniprot
proteins
pubmed
24485656
uniprot
proteins
pubmed
24556926
uniprot
proteins
pubmed
26833090
uniprot
proteins
pubmed
28319063
uniprot
proteins
pubmed
31841383
uniprot
proteins
sequence_length
1186
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16793542, ECO:0000269|PubMed:26833090, ECO:0000269|PubMed:28319063}. Note=Colocalizes with BRCA2 and BRCA1 in nuclear foci. {ECO:0000269|PubMed:16793542, ECO:0000269|PubMed:28319063}.
uniprot
proteins