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    Palb2 partner and localizer of BRCA2 [ Mus musculus (house mouse) ]

    Gene ID: 233826, updated on 5-Aug-2018

    Summary

    Official Symbol
    Palb2provided by MGI
    Official Full Name
    partner and localizer of BRCA2provided by MGI
    Primary source
    MGI:MGI:3040695
    See related
    Ensembl:ENSMUSG00000044702 Vega:OTTMUSG00000022651
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    BC066140
    Expression
    Broad expression in CNS E11.5 (RPKM 3.4), liver E14 (RPKM 3.4) and 26 other tissues See more
    Orthologs

    Genomic context

    See Palb2 in Genome Data Viewer
    Location:
    7; 7 F2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 7 NC_000073.6 (122107262..122132980, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (129250779..129276460, complement)

    Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene ubiquitin family domain containing 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1 Neighboring gene predicted gene 16326 Neighboring gene dynactin 5 Neighboring gene polo like kinase 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • 4732427B05

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    animal organ morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
     
    embryonic organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner cell mass cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mesoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    post-anal tail morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somitogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    partner and localizer of BRCA2

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001081238.2NP_001074707.1  partner and localizer of BRCA2 isoform 1

      See identical proteins and their annotated locations for NP_001074707.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC124379, BB061170, BC066139, BC066140, BQ560264
      Consensus CDS
      CCDS40117.1
      UniProtKB/Swiss-Prot
      Q3U0P1
      Related
      ENSMUSP00000095675.3, OTTMUSP00000025884, ENSMUST00000098068.9, OTTMUST00000054269
      Conserved Domains (1) summary
      pfam16756
      Location:7551102
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain
    2. NM_001289842.1NP_001276771.1  partner and localizer of BRCA2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC124379, BB757034, BC066139, BC066140, BQ560264
      Consensus CDS
      CCDS80797.1
      UniProtKB/Swiss-Prot
      Q3U0P1
      UniProtKB/TrEMBL
      D3YVU6
      Related
      ENSMUSP00000102076.1, OTTMUSP00000025887, ENSMUST00000106468.6, OTTMUST00000054272
      Conserved Domains (1) summary
      pfam16756
      Location:755984
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain
    3. NM_001289843.1NP_001276772.1  partner and localizer of BRCA2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, initiates translation at a downstream start codon and contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC124379, BB757034, BC066139, BC066140, BQ560264
      UniProtKB/Swiss-Prot
      Q3U0P1
      Conserved Domains (1) summary
      pfam16756
      Location:471700
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain
    4. NM_001289844.1NP_001276773.1  partner and localizer of BRCA2 isoform 4

      See identical proteins and their annotated locations for NP_001276773.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 4, which lacks an internal segment and is shorter, compared to isoform 1.
      Source sequence(s)
      BB061170, BC066139, BC066140, BQ560264
      Consensus CDS
      CCDS72035.1
      UniProtKB/Swiss-Prot
      Q3U0P1
      Related
      ENSMUSP00000102077.1, OTTMUSP00000025885, ENSMUST00000106469.7, OTTMUST00000054270
      Conserved Domains (1) summary
      pfam16756
      Location:392739
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain
    5. NM_001289845.1NP_001276774.1  partner and localizer of BRCA2 isoform 5

      See identical proteins and their annotated locations for NP_001276774.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks three consecutive exons in the coding region, compared to variant 1. It encodes isoform 5, which lacks an internal in-frame segment and is shorter, compared to isoform 1.
      Source sequence(s)
      BB061170, BC066139, BC066140, BQ560264
      Consensus CDS
      CCDS80796.1
      UniProtKB/Swiss-Prot
      Q3U0P1
      Related
      ENSMUSP00000063514.6, OTTMUSP00000025886, ENSMUST00000063587.12, OTTMUST00000054271
      Conserved Domains (1) summary
      pfam16756
      Location:36382
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000073.6 Reference GRCm38.p4 C57BL/6J

      Range
      122107262..122132980 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011241755.2XP_011240057.1  partner and localizer of BRCA2 isoform X1

      Conserved Domains (1) summary
      pfam16756
      Location:471818
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain
    2. XM_011241756.1XP_011240058.1  partner and localizer of BRCA2 isoform X2

      Conserved Domains (1) summary
      pfam16756
      Location:755834
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain

    RNA

    1. XR_869708.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172744.1: Suppressed sequence

      Description
      NM_172744.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
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