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PALB2 Gene

protein-coding   GIFtS: 62
GCID: GC16M023614

Partner And Localizer Of BRCA2

  See PALB2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Partner And Localizer Of BRCA21 2
FANCN2 3 5
PNCA32 5
Complementation Group N1
Fanconi Anemia1

External Ids:    HGNC: 261441   Entrez Gene: 797282   Ensembl: ENSG000000830937   OMIM: 6103555   UniProtKB: Q86YC23   

Export aliases for PALB2 gene to outside databases

Previous GC identifers: GC16M023522 GC16M021704


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 susceptibility 3.

UniProtKB/Swiss-Prot: PALB2_HUMAN, Q86YC2
Function: Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and
RAD51 to DNA breaks. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is
essential for homologous recombination. 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. 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

Gene Wiki entry for PALB2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_187260.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the PALB2 gene promoter:
         AhR   AML1a   ATF-2   FOXD1   CUTL1   NF-kappaB   Arnt   NF-kappaB2   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPALB2 promoter sequence
   Search Chromatin IP Primers for PALB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PALB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.2   Ensembl cytogenetic band:  16p12.2   HGNC cytogenetic band: 16p12.1

PALB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PALB2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M023614:  view genomic region     (about GC identifiers)

Start:
23,614,483 bp from pter      End:
23,652,678 bp from pter
Size:
38,196 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PALB2_HUMAN, Q86YC2 (See protein sequence)
Recommended Name: Partner and localizer of BRCA2  
Size: 1186 amino acids; 131295 Da
Subunit: Homooligomer. Oligomerization is essential for its focal accumulation at DNA breaks. Part of a trimeric
complex containing BRCA1, BRCA2 and PALB2. Interacts with BRCA1 and this interaction is essential for its
function in HRR. Interacts with RAD51, BRCA2, RAD51AP1 and MORF4L1/MRG15
Sequence caution: Sequence=BAB15140.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for PALB2:
2W18 (3D)        3EU7 (3D)    
Secondary accessions: A6NIE1 Q8N7Y6 Q8ND31 Q9H6W1

Explore the universe of human proteins at neXtProt for PALB2: NX_Q86YC2

Explore proteomics data for PALB2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PALB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_078951.2  
    ENSEMBL proteins: 
     ENSP00000459237   ENSP00000454703   ENSP00000261584   ENSP00000459882   ENSP00000455524  
     ENSP00000460666  
    Reactome Protein details: Q86YC2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FANC: Fanconi anemia, complementation groups

    2 InterPro protein domains:
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q86YC2

    ProtoNet protein and cluster: 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
    Similarity: Contains 7 WD repeats


    Find genes that share domains with PALB2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PALB2_HUMAN, Q86YC2
    Function: Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and
    RAD51 to DNA breaks. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is
    essential for homologous recombination. 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. 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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA--
    GO:0005515protein binding IPI19369211
         
    Find genes that share ontologies with PALB2           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for PALB2:
     Decreased viability with pacli  Downregulation of NF-kappaB pa  Increased S DNA content  Increased gamma-H2AX phosphory 

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Palb2):
     cardiovascular system  cellular  embryogenesis  growth/size/body  integument 
     limbs/digits/tail  mortality/aging  nervous system  tumorigenesis 

    Find genes that share phenotypes with PALB2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PALB2: Palb2tm1.2Dli Palb2tm1(KOMP)Vlcg

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PALB2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PALB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PALB2

    miRNA
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    miRTarBase miRNAs that target PALB2:
    hsa-mir-221-3p (MIRT046846)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PALB2_HUMAN, Q86YC2: Nucleus. Note=Colocalizes with BRCA2 in nuclear foci
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with PALB2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PALB2 About    
    See pathways by source

    SuperPathContained pathways About
    1DNA Repair
    DNA Repair0.45
    2Fanconi Anemia pathway (REACTOME)
    Fanconi Anemia pathway
    3Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway


    Find genes that share SuperPaths with PALB2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PALB2
        Fanconi Anemia pathway


    1 Kegg Pathway  (Kegg details for PALB2):
        Fanconi anemia pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PALB2
    Interactions:

        GeneGlobe Interaction Network for PALB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for PALB2 (Q86YC21, 2, 3 ENSP000002615844) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRCA2P515871, 2, 3, ENSP000003694974EBI-1222653,EBI-79792 MINT-8361862 MINT-8385019 MINT-8384999 MINT-8329389 MINT-8329250 MINT-8329289 MINT-8384768 MINT-7262259 MINT-7262208 MINT-8384781 MINT-7262197 MINT-7262227 I2D: score=3 STRING: ENSP00000369497
    RAD51Q066092, 3, ENSP000002678684MINT-8361862 MINT-8385019 MINT-8384999 MINT-8329389 MINT-8384781 MINT-8329250 MINT-8329289 I2D: score=1 STRING: ENSP00000267868
    BRCA1P383982, 3, ENSP000003502834MINT-8361862 MINT-8329389 MINT-8329250 MINT-8329289 I2D: score=1 STRING: ENSP00000350283
    MORF4L1Q9UBU82, 3, ENSP000003313104MINT-8361862 MINT-8329389 MINT-8329250 MINT-8329289 I2D: score=1 STRING: ENSP00000331310
    LMNAP025452MINT-8361862 MINT-8329389 MINT-8329289
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination IDA19369211
    GO:0001756somitogenesis IEA--
    GO:0001833inner cell mass cell proliferation IEA--
    GO:0006281DNA repair TAS--
    GO:0007498mesoderm development IEA--

    Find genes that share ontologies with PALB2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PALB2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PALB2 gene: 
    NM_024675.3  

    Unigene Cluster for PALB2:

    Partner and localizer of BRCA2
    Hs.444664  [show with all ESTs]
    Unigene Representative Sequence: BX647125
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000566069 ENST00000568219 ENST00000261584(uc002dlx.1) ENST00000565038
    ENST00000567003 ENST00000561514
    miRNA
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    Additional mRNA sequence: 

    AK025469.1 AK097533.1 AK299152.1 AL834425.1 BC044254.2 BX647125.1 BX647130.1 CR749637.1 

    6 DOTS entries:

    DT.100740431  DT.311816  DT.92419621  DT.100737924  DT.427922  DT.75190630 

    Selected AceView cDNA sequences (see all 66):

    CA446257 BC044254 AW129312 AA219568 AL834425 BX647130 NM_024675 AA579758 
    CD632201 AK025469 AA233461 CA424379 CR749637 BE670820 BX117589 BQ217294 
    AA251848 CD632199 AA384612 AK097533 BF110755 BQ009434 BX647125 AA428136 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PALB2    About this scheme

    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:                                                                                                        -               


    ECgene alternative splicing isoforms for PALB2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PALB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTTTTAAA
    PALB2 Expression
    About this image


    PALB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    PALB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PALB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444664
        Custom PCR Arrays for PALB2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PALB2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PALB2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Palb21 , 5 partner and localizer of BRCA21, 5 76.25(n)1
    63.69(a)1
      7 (65.42 cM)5
    2338261  NM_001081238.11  NP_001074707.11 
     1221072625 
    chicken
    (Gallus gallus)
    Aves PALB21 partner and localizer of BRCA2 52.79(n)
    40.43(a)
      416572  XM_004945264.1  XP_004945321.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    52(a)
    51(a)
    many → 1
    many → 1
    AAWZ02040774(1117-4700)
    GL343883.1(138983-153681)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA789139.12   -- 75.13(n)    CA789139.1 
    zebrafish
    (Danio rerio)
    Actinopterygii palb26
    partner and localizer of BRCA2
    18(a)
    1 ↔ 1
    1(8201107-8210129) ENSDARG00000076716


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PALB2 gene

    Find genes that share paralogs with PALB2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PALB2
    PGOHUM00000248764


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PALB2 (see all 924)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs454390971,2
    C,Fnon-pathogenic123614846(-) TGGTCG/AGGTAC 2 /S syn12Minor allele frequency- A:0.00NA EU 5871
    rs455161001,2
    C,Fnon-pathogenic123619235(-) ACGACT/GCTCAG 2 /T syn14Minor allele frequency- G:0.03NA EU 5998
    rs2499361,2
    C,Hnon-pathogenic123625463(-) CTGAAA/TACTGG 1 -- int116Minor allele frequency- T:0.00MN NS EA NA WA CSA 743
    rs1801771301,2
    Cnon-pathogenic123632772(-) ATGCCC/TCCTGA 2 P syn11Minor allele frequency- T:0.00EU 1323
    rs1801771281,2
    C,Fnon-pathogenic123634273(-) ATTGAT/CTGATT 1 -- int11Minor allele frequency- C:0.00EU 1323
    rs1801771191,2
    C,Fnon-pathogenic123637756(-) GCACTC/GGAGTG 1 -- int11Minor allele frequency- G:0.00EU 1323
    rs2499541,2
    C,F,O,A,Hnon-pathogenic123640467(-) ATGAAC/TTGAAA 1 -- int125Minor allele frequency- T:0.36EA NA NS WA CSA 2541
    rs743200591,2
    C,Fnon-pathogenic123646154(+) CATCAT/CCATCA 1 -- int13Minor allele frequency- C:0.14WA CSA 122
    rs454724001,2
    C,Fnon-pathogenic123646295(-) GCATCA/GGATCA 2 S syn13Minor allele frequency- G:0.00NA EU 5769
    rs456128371,2
    C,Fnon-pathogenic123646397(-) TCTCCC/TGCTGG 2 P syn12Minor allele frequency- T:0.00NA EU 5865

    HapMap Linkage Disequilibrium report for PALB2 (23614483 - 23652678 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PALB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv819281CNV Loss19587683

    Human Gene Mutation Database (HGMD): PALB2
    Locus Specific Mutation Databases (LSDB): PALB2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PALB2
    DNA2.0 Custom Variant and Variant Library Synthesis for PALB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610355   
    OMIM disorders: 610832  114480  613348  
    UniProtKB/Swiss-Prot: PALB2_HUMAN, Q86YC2
  • 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. 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)
  • 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. 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 17 diseases for PALB2:    
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    fanconi anemia, complementation group n    pancreatic cancer susceptibility 3    palb2-related fanconi anemia    palb2-related cancer susceptibility
    pancreatic cancer 3    chylothorax, congenital    breast cancer    brca1 and brca2 hereditary breast and ovarian cancer
    brca2 hereditary breast and ovarian cancer    familial melanoma    pancreatic cancer    breast-ovarian cancer, familial, 2
    male breast cancer    breast cancer susceptibility    fanconi's anemia    fanconi anemia, complementation group c
    ovarian cancer

    3 diseases from the University of Copenhagen DISEASES database for PALB2:
    Aplastic anemia     Breast cancer     Ovarian cancer

    Find genes that share disorders with PALB2           About GenesLikeMe

    GeneTests: PALB2
    GeneReviews: PALB2
    Genetic Association Database (GAD): PALB2
    Human Genome Epidemiology (HuGE) Navigator: PALB2 (39 documents)

    Export disorders for PALB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PALB2 gene, integrated from 10 sources (see all 107):
    (articles sorted by number of sources associating them with PALB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. (PubMed id 19264984)1, 2, 4 Jones S.... Klein A.P. (Science 2009)
    2. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. (PubMed id 17200672)1, 2, 3 Xia B.... de Winter J.P. (Nat. Genet. 2007)
    3. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. (PubMed id 16793542)1, 2, 3 Xia B.... Livingston D.M. (Mol. Cell 2006)
    4. Rare germline mutations in PALB2 and breast cancer risk: a population-based study. (PubMed id 22241545)1, 2 Tischkowitz M.... Begg C.B. (Hum. Mutat. 2012)
    5. Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. (PubMed id 21618343)1, 2 Hellebrand H.... Meindl A. (Hum. Mutat. 2011)
    6. Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. (PubMed id 21254220)1, 4 Jiang Y. and Zhang H. (Genet. Epidemiol. 2011)
    7. A PALB2 germline mutation associated with hereditary breast cancer in Italy. (PubMed id 19763884)1, 4 Papi L....Palli D. (Fam. Cancer 2010)
    8. PALB2 mutations 1592delT and 229delT are not present in Korean breast cancer patients negative for BRCA1 and BRCA2 mutations. (PubMed id 20213081)1, 4 Kim J.H....Haffty B.G. (Breast Cancer Res. Treat. 2010)
    9. PALB2 mutations in male breast cancer: a population-based study in Central Italy. (PubMed id 20180015)1, 4 Silvestri V....Ottini L. (Breast Cancer Res. Treat. 2010)
    10. Five common single nucleotide polymorphisms in the PALB2 gene and susceptibility to breast cancer in eastern Chinese population. (PubMed id 19921424)1, 4 Cao A.Y....Shao Z.M. (Breast Cancer Res. Treat. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79728 HGNC: 26144 AceView: FLJ21816 Ensembl:ENSG00000083093 euGenes: HUgn79728
    ECgene: PALB2 Kegg: 79728 H-InvDB: PALB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PALB2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PALB2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PALB2 gene:
    Search GeneIP for patents involving PALB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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