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    PALB2 partner and localizer of BRCA2 [ Homo sapiens (human) ]

    Gene ID: 79728, updated on 13-Aug-2017
    Official Symbol
    PALB2provided by HGNC
    Official Full Name
    partner and localizer of BRCA2provided by HGNC
    Primary source
    HGNC:HGNC:26144
    See related
    Ensembl:ENSG00000083093 MIM:610355; Vega:OTTHUMG00000177097
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FANCN; PNCA3
    Summary
    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]
    Orthologs
    Location:
    16p12.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (23603162..23641357, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23614481..23652678, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ubiquitin family domain containing 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1 Neighboring gene dynactin subunit 5 Neighboring gene polo like kinase 1 Neighboring gene endoplasmic reticulum to nucleus signaling 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    NHGRI GWA Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    NHGRI GWA Catalog
    Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
    NHGRI GWA Catalog
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
      Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
    • Homologous recombination, organism-specific biosystem (from KEGG)
      Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homologous recombination, conserved biosystem (from KEGG)
      Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
      Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
    • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
    • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ21816, DKFZp667I166, DKFZp686E1054

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA synthesis involved in DNA repair TAS
    Traceable Author Statement
    more info
     
    animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic organ development IEA
    Inferred from Electronic Annotation
    more info
     
    inner cell mass cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    post-anal tail morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    strand displacement TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    partner and localizer of BRCA2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007406.1 RefSeqGene

      Range
      5001..43196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_308

    mRNA and Protein(s)

    1. NM_024675.3NP_078951.2  partner and localizer of BRCA2

      See identical proteins and their annotated locations for NP_078951.2

      Status: REVIEWED

      Source sequence(s)
      BE670820, BX647130, DA192828
      Consensus CDS
      CCDS32406.1
      UniProtKB/Swiss-Prot
      Q86YC2
      Related
      ENSP00000261584.4, OTTHUMP00000255811, ENST00000261584.8, OTTHUMT00000435287
      Conserved Domains (1) summary
      pfam16756
      Location:8371184
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      23603162..23641357 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023672.1XP_016879161.1  partner and localizer of BRCA2 isoform X3

    2. XM_017023673.1XP_016879162.1  partner and localizer of BRCA2 isoform X5

    3. XM_011545948.2XP_011544250.1  partner and localizer of BRCA2 isoform X6

      See identical proteins and their annotated locations for XP_011544250.1

      UniProtKB/TrEMBL
      H3BN63
      Related
      ENSP00000454703.2, OTTHUMP00000255810, ENST00000568219.5, OTTHUMT00000435286
      Conserved Domains (1) summary
      pfam16756
      Location:542889
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain
    4. XM_011545946.2XP_011544248.1  partner and localizer of BRCA2 isoform X1

      See identical proteins and their annotated locations for XP_011544248.1

      Conserved Domains (1) summary
      pfam16756
      Location:8391186
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain
    5. XM_017023671.1XP_016879160.1  partner and localizer of BRCA2 isoform X2

    6. XM_011545947.2XP_011544249.1  partner and localizer of BRCA2 isoform X4

      Conserved Domains (1) summary
      pfam16756
      Location:8391069
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      24626195..24664406 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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