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

    Gene ID: 79728, updated on 19-Jul-2021

    Summary

    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
    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]
    Expression
    Ubiquitous expression in testis (RPKM 4.0), esophagus (RPKM 2.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PALB2 in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (23603162..23641337, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23614486..23652631, 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Familial cancer of breast Compare labs
    Fanconi anemia, complementation group N Compare labs
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    GeneReviews: Not available
    Hereditary cancer-predisposing syndrome
    MedGen: C0027672 GeneReviews: Not available
    Compare labs
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    GeneReviews: Not available
    Pancreatic cancer 3
    MedGen: C3150547 OMIM: 613348 GeneReviews: Not available
    Compare labs
    Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21816, DKFZp667I166, DKFZp686E1054

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic organ development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner cell mass cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-anal tail morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    partner and localizer of BRCA2
    Names
    mutant partner and localizer of BRCA2
    truncated partner and localizer of BRCA2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_024675.4NP_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
      Consensus CDS
      CCDS32406.1
      UniProtKB/Swiss-Prot
      Q86YC2
      Related
      ENSP00000261584.4, ENST00000261584.9
      Conserved Domains (1) summary
      pfam16756
      Location:8371184
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      23603162..23641337 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023672.2XP_016879161.1  partner and localizer of BRCA2 isoform X3

    2. XM_017023673.2XP_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, ENST00000568219.5
      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
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