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Aliases for PALB2 Gene

Aliases for PALB2 Gene

  • Partner And Localizer Of BRCA2 2 3
  • FANCN 3 4 6
  • PNCA3 3 6
  • Complementation Group N 2
  • Fanconi Anemia 2

External Ids for PALB2 Gene

Previous GeneCards Identifiers for PALB2 Gene

  • GC16M023522
  • GC16M021704

Summaries for PALB2 Gene

Entrez Gene Summary for PALB2 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]

GeneCards Summary for PALB2 Gene

PALB2 (Partner And Localizer Of BRCA2) is a Protein Coding gene. Diseases associated with PALB2 include fanconi anemia, complementation group n and pancreatic cancer 3. Among its related pathways are DNA Repair and Fanconi anemia pathway (KEGG).

UniProtKB/Swiss-Prot for PALB2 Gene

  • 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.

Gene Wiki entry for PALB2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PALB2 Gene

Genomics for PALB2 Gene

Regulatory Elements for PALB2 Gene

Genomic Location for PALB2 Gene

Start:
23,603,160 bp from pter
End:
23,641,357 bp from pter
Size:
38,198 bases
Orientation:
Minus strand

Genomic View for PALB2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PALB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PALB2 Gene

Proteins for PALB2 Gene

  • Protein details for PALB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YC2-PALB2_HUMAN
    Recommended name:
    Partner and localizer of BRCA2
    Protein Accession:
    Q86YC2
    Secondary Accessions:
    • A6NIE1
    • Q8N7Y6
    • Q8ND31
    • Q9H6W1

    Protein attributes for PALB2 Gene

    Size:
    1186 amino acids
    Molecular mass:
    131295 Da
    Quaternary structure:
    • Homooligomer; dissociated upon DNA damage thus allowing association with BRCA1. Oligomerization is essential for its focal accumulation at DNA breaks. Part of a BRCA complex containing BRCA1, BRCA2 and PALB2. Interacts with BRCA1 and this interaction is essential for its function in HRR. Interacts with RAD51AP1 and MORF4L1/MRG15. Interacts with BRCA2, RAD51C, RAD51 and XRCC3; the interactions are direct and it may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3. Interacts with POLH; the interaction is direct.
    SequenceCaution:
    • Sequence=BAB15140.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PALB2 Gene

neXtProt entry for PALB2 Gene

Proteomics data for PALB2 Gene at MOPED

Post-translational modifications for PALB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PALB2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for PALB2 Gene

Domains for PALB2 Gene

Gene Families for PALB2 Gene

HGNC:
  • FANC :Fanconi anemia, complementation groups

Protein Domains for PALB2 Gene

Suggested Antigen Peptide Sequences for PALB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86YC2

UniProtKB/Swiss-Prot:

PALB2_HUMAN :
  • Q86YC2
Domain:
  • Interaction with BRCA2 occurs through a hydrophobic pocket at the crossover between WD repeats 4 and 5.
  • The coiled coil domain mediates self-association.
  • The chromatin-association motif (ChAM) mediates association with chromatin, probably through nucleosome core particles, independently from binding to D loop, ssDNA or dsDNA structures.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with PALB2: view

Function for PALB2 Gene

Molecular function for PALB2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for PALB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 20871616
GO:0005515 protein binding IPI 19369211
genes like me logo Genes that share ontologies with PALB2: view
genes like me logo Genes that share phenotypes with PALB2: view

Animal Models for PALB2 Gene

MGI Knock Outs for PALB2:

miRNA for PALB2 Gene

miRTarBase miRNAs that target PALB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PALB2 Gene

Localization for PALB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PALB2 Gene

Nucleus. Note=Colocalizes with BRCA2 in nuclear foci.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PALB2 Gene COMPARTMENTS Subcellular localization image for PALB2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PALB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with PALB2: view

Pathways for PALB2 Gene

genes like me logo Genes that share pathways with PALB2: view

Pathways by source for PALB2 Gene

2 Reactome pathways for PALB2 Gene
1 KEGG pathway for PALB2 Gene

Gene Ontology (GO) - Biological Process for PALB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IDA 19369211
GO:0001756 somitogenesis IEA --
GO:0001833 inner cell mass cell proliferation IEA --
GO:0006281 DNA repair TAS --
GO:0007498 mesoderm development IEA --
genes like me logo Genes that share ontologies with PALB2: view

Transcripts for PALB2 Gene

Unigene Clusters for PALB2 Gene

Partner and localizer of BRCA2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PALB2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1:
SP2: -
SP3: - -
SP4: -
SP5: -

Relevant External Links for PALB2 Gene

GeneLoc Exon Structure for
PALB2
ECgene alternative splicing isoforms for
PALB2

Expression for PALB2 Gene

mRNA expression in normal human tissues for PALB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PALB2 Gene

SOURCE GeneReport for Unigene cluster for PALB2 Gene Hs.444664

genes like me logo Genes that share expressions with PALB2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PALB2 Gene

Orthologs for PALB2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PALB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PALB2 35
  • 99.44 (n)
  • 98.99 (a)
PALB2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PALB2 35
  • 79.92 (n)
  • 68.39 (a)
PALB2 36
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PALB2 35
  • 82.45 (n)
  • 72.7 (a)
PALB2 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Palb2 35
  • 76.25 (n)
  • 63.69 (a)
Palb2 16
Palb2 36
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PALB2 36
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PALB2 36
  • 40 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Palb2 35
  • 76.68 (n)
  • 63.35 (a)
chicken
(Gallus gallus)
Aves PALB2 35
  • 52.79 (n)
  • 40.43 (a)
PALB2 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 52 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii palb2 36
  • 18 (a)
OneToOne
Species with no ortholog for PALB2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PALB2 Gene

ENSEMBL:
Gene Tree for PALB2 (if available)
TreeFam:
Gene Tree for PALB2 (if available)

Paralogs for PALB2 Gene

Pseudogenes.org Pseudogenes for PALB2 Gene

genes like me logo Genes that share paralogs with PALB2: view

No data available for Paralogs for PALB2 Gene

Variants for PALB2 Gene

Sequence variations from dbSNP and Humsavar for PALB2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs152451 untested, - 23,634,870(-) TATTC(A/G/T)AGTGA reference, missense
rs168737 -- 23,612,953(+) tcacc(A/G)tattg intron-variant
rs173640 -- 23,632,439(-) tgaga(A/T)ggagt intron-variant
rs173773 -- 23,632,416(+) tccag(C/T)ctggg intron-variant
rs185130 -- 23,632,390(-) cttgg(C/T)tcact intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PALB2 Gene

Variant ID Type Subtype PubMed ID
nsv819281 CNV Loss 19587683

Relevant External Links for PALB2 Gene

HapMap Linkage Disequilibrium report
PALB2
Human Gene Mutation Database (HGMD)
PALB2
Locus Specific Mutation Databases (LSDB)
PALB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PALB2 Gene

Disorders for PALB2 Gene

(3) OMIM Diseases for PALB2 Gene (610355)

UniProtKB/Swiss-Prot

PALB2_HUMAN
  • 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}. 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:0000269 PubMed: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:0000269 PubMed: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:0000269 PubMed:19264984}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PALB2 Gene

Relevant External Links for PALB2

GeneTests
PALB2
GeneReviews
PALB2
Genetic Association Database (GAD)
PALB2
Human Genome Epidemiology (HuGE) Navigator
PALB2
genes like me logo Genes that share disorders with PALB2: view

Publications for PALB2 Gene

  1. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. (PMID: 16793542) Xia B. … Livingston D.M. (Mol. Cell 2006) 2 3 4
  2. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. (PMID: 17200672) Xia B. … de Winter J.P. (Nat. Genet. 2007) 2 3 4
  3. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. (PMID: 19264984) Jones S. … Klein A.P. (Science 2009) 3 4 48
  4. The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. (PMID: 19536649) Barroso E. … Ribas G. (Breast Cancer Res. Treat. 2009) 3 48
  5. Structural basis for recruitment of BRCA2 by PALB2. (PMID: 19609323) Oliver A.W. … Pearl L.H. (EMBO Rep. 2009) 3 4

Products for PALB2 Gene

Sources for PALB2 Gene

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