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Aliases for PALB2 Gene

Aliases for PALB2 Gene

  • Partner And Localizer Of BRCA2 2 3 3 5
  • FANCN 3 4
  • Fanconi Anemia, Complementation Group N 2
  • Mutant Partner And Localizer Of BRCA2 3
  • PNCA3 3

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]

CIViC summary for PALB2 Gene

GeneCards Summary for PALB2 Gene

PALB2 (Partner And Localizer Of BRCA2) is a Protein Coding gene. Diseases associated with PALB2 include Pancreatic Cancer 3 and Fanconi Anemia, Complementation Group N. Among its related pathways are Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) and DNA Double-Strand Break Repair.

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 (PubMed:16793542, PubMed:19423707, PubMed:19369211, 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).

Gene Wiki entry for PALB2 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for PALB2 Gene

Promoters and enhancers for PALB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J023639 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 672 0.0 0 3.2 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 POLR2B DCTN5 PALB2 PLK1 ENSG00000260751 RBBP6 ENSG00000261723 SCNN1B GGA2
GH16J023452 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 27.7 +188.5 188456 1.8 HDGF FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 E2F8 ZNF143 ENSG00000260136 COG7 PALB2 NPIPB5 ENSG00000261723 DCTN5 SCNN1B ENSG00000260751 GGA2 ENSG00000260905
GH16J023508 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 21.1 +131.5 131545 2.6 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A GGA2 PALB2 ENSG00000260905 DCTN5 LOC100419017 ENSG00000260751 COG7 NDUFAB1 UBFD1 PIR42085
GH16J023594 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13 +45.0 44990 2.9 MLX ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC NDUFAB1 DCTN5 RBBP6 PALB2 ENSG00000260751 ENSG00000260905 EARS2 GGA2 ENSG00000261723
GH16J024538 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.5 -899.4 -899370 4.7 CLOCK MLX ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC SSRP1 ZNF610 RBBP6 PALB2 LCMT1-AS2 LOC554206 ENSG00000261669 TNRC6A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PALB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PALB2 gene promoter:
  • FOXD1
  • AML1a
  • NF-kappaB2
  • NF-kappaB1
  • NF-kappaB
  • c-Jun
  • ATF-2
  • CUTL1
  • Arnt
  • AhR

Genomic Locations for PALB2 Gene

Genomic Locations for PALB2 Gene
chr16:23,603,160-23,641,357
(GRCh38/hg38)
Size:
38,198 bases
Orientation:
Minus strand
chr16:23,614,483-23,652,678
(GRCh37/hg19)
Size:
38,196 bases
Orientation:
Minus strand

Genomic View for PALB2 Gene

Genes around PALB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PALB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:19423707, PubMed:28319063). Oligomerization is essential for its focal accumulation at DNA breaks (PubMed:19423707). Part of a BRCA complex containing BRCA1, BRCA2 and PALB2 (PubMed:19369211). Interacts with BRCA1 and this interaction is essential for its function in HRR (PubMed:19369211, PubMed:28319063). Interacts with RAD51AP1 and MORF4L1/MRG15 (PubMed:20332121, PubMed:20871616). 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 (PubMed:28319063, PubMed:16793542, PubMed:19423707, PubMed:19609323, PubMed:20871615, PubMed:20871616, PubMed:24141787). Interacts with POLH; the interaction is direct (PubMed:24485656).
    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

Post-translational modifications for PALB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PALB2 Gene

Domains & Families for PALB2 Gene

Gene Families for PALB2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

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 :
  • Interaction with BRCA2 occurs through a hydrophobic pocket at the crossover between WD repeats 4 and 5.
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.
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 (PubMed:16793542, PubMed:19423707, PubMed:19369211, 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).

Phenotypes From GWAS Catalog for PALB2 Gene

Gene Ontology (GO) - Molecular Function for PALB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA,IEA 20871616
GO:0005515 protein binding IPI 17420451
genes like me logo Genes that share ontologies with PALB2: view
genes like me logo Genes that share phenotypes with PALB2: view

Human Phenotype Ontology for PALB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PALB2 Gene

MGI Knock Outs for PALB2:
  • Palb2 Palb2<tm1.2Dli>
  • Palb2 Palb2<tm1.1(KOMP)Vlcg>

Animal Model Products

miRNA for PALB2 Gene

miRTarBase miRNAs that target PALB2

Clone Products

  • Addgene plasmids for PALB2

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

Localization for PALB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PALB2 Gene

Nucleus. Note=Colocalizes with BRCA2 and BRCA1 in nuclear foci. {ECO:0000269 PubMed:16793542, ECO:0000269 PubMed:28319063}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PALB2 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PALB2 Gene

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

Pathways & Interactions for PALB2 Gene

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

SIGNOR curated interactions for PALB2 Gene

Activates:

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 IMP 26323318
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
GO:0001701 in utero embryonic development IEA --
GO:0001756 somitogenesis IEA --
genes like me logo Genes that share ontologies with PALB2: view

Drugs & Compounds for PALB2 Gene

(2) Drugs for PALB2 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rucaparib Approved, Investigational Pharma PARP inhibitor, PARP Inhibitors, Other 23
Poly(ADP-ribose) Polymerase Inhibitors Pharma 389
genes like me logo Genes that share compounds with PALB2: view

Transcripts for PALB2 Gene

Unigene Clusters for PALB2 Gene

Partner and localizer of BRCA2:
Representative Sequences:

Clone Products

  • Addgene plasmids for PALB2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for PALB2 Gene

Protein differential expression in normal tissues from HIPED for PALB2 Gene

This gene is overexpressed in Pancreas (28.9), Serum (12.3), Plasma (11.7), and Lung (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PALB2 Gene



Protein tissue co-expression partners for PALB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PALB2 Gene:

PALB2

SOURCE GeneReport for Unigene cluster for PALB2 Gene:

Hs.444664

Phenotype-based relationships between genes and organs from Gene ORGANizer for PALB2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PALB2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 34 33
  • 99.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PALB2 34 33
  • 82.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PALB2 34 33
  • 79.92 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Palb2 33
  • 76.68 (n)
mouse
(Mus musculus)
Mammalia Palb2 16 34 33
  • 76.25 (n)
oppossum
(Monodelphis domestica)
Mammalia PALB2 34
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PALB2 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves PALB2 34 33
  • 52.79 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 52 (a)
OneToMany
-- 34
  • 51 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii palb2 34
  • 18 (a)
OneToOne
Species where no ortholog for PALB2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PALB2: view image

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 Variation AA Info Type
rs1005933814 uncertain-significance, Familial cancer of breast 23,603,313(-) T/C 3_prime_UTR_variant
rs1019525144 uncertain-significance, Familial cancer of breast, Hereditary cancer-predisposing syndrome 23,630,311(-) G/A/C/T coding_sequence_variant, missense_variant
rs1021662947 pathogenic, Hereditary cancer-predisposing syndrome 23,614,039(-) G/A coding_sequence_variant, intron_variant, stop_gained
rs1032636199 likely-benign, Hereditary cancer-predisposing syndrome 23,629,630(-) T/C intron_variant
rs1038099508 likely-benign, Hereditary cancer-predisposing syndrome 23,641,167(-) G/A 5_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
dgv496e214 CNV loss 21293372
esv3638230 CNV gain 21293372
nsv478939 CNV novel sequence insertion 20440878
nsv819281 CNV loss 19587683

Variation tolerance for PALB2 Gene

Residual Variation Intolerance Score: 17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.68; 57.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PALB2 Gene

Human Gene Mutation Database (HGMD)
PALB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PALB2

SNP Genotyping and Copy Number Assay Products

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

Disorders for PALB2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for PALB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pancreatic cancer 3
  • pancreatic cancer, susceptibility to, 3
fanconi anemia, complementation group n
  • fancn
breast cancer
  • breast cancer, familial
tracheoesophageal fistula
  • tracheoesophageal fistula with or without esophageal atresia
bap1 tumor predisposition syndrome
  • tumor predisposition syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PALB2 in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:28319063}. 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.

Additional Disease Information for PALB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PALB2: view

No data available for Genatlas for PALB2 Gene

Publications for PALB2 Gene

  1. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. (PMID: 19264984) Jones S … Klein AP (Science (New York, N.Y.) 2009) 3 4 44 58
  2. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. (PMID: 17200672) Xia B … de Winter JP (Nature genetics 2007) 2 3 4 58
  3. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. (PMID: 16793542) Xia B … Livingston DM (Molecular cell 2006) 2 3 4 58
  4. Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. (PMID: 28319063) Foo TK … Xia B (Oncogene 2017) 3 4 58
  5. Breast cancer proteins PALB2 and BRCA2 stimulate polymerase η in recombination-associated DNA synthesis at blocked replication forks. (PMID: 24485656) Buisson R … Masson JY (Cell reports 2014) 3 4 58

Products for PALB2 Gene

Sources for PALB2 Gene

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