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

    Gene ID: 233826, updated on 23-Jun-2021

    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
    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
    NEW
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    Genomic context

    See Palb2 in Genome Data Viewer
    Location:
    7; 7 F2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (121706485..121732203, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 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_000073.7Genomic Context describing neighboring genes Neighboring gene glutamyl-tRNA synthetase 2, mitochondrial Neighboring gene ubiquitin family domain containing 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1 Neighboring gene 60S ribosomal protein L27-like Neighboring gene dynactin 5 Neighboring gene predicted gene 15489 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    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
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within animal organ morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to DNA damage stimulus 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 ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within embryonic organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within inner cell mass cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mesoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within post-anal tail morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within somitogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    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.

    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
      ENSMUSP00000095675.4, ENSMUST00000098068.10
      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
      ENSMUSP00000102076.2, ENSMUST00000106468.7
      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
      ENSMUSP00000102077.2, ENSMUST00000106469.8
      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
      ENSMUSP00000063514.7, ENSMUST00000063587.13
      Conserved Domains (1) summary
      pfam16756
      Location:36382
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      121706485..121732203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011241755.4XP_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

    RNA

    1. XR_869708.1 RNA Sequence

    2. XR_003946463.1 RNA Sequence

    3. XR_003946462.1 RNA Sequence

    4. XR_003946461.1 RNA Sequence

    5. XR_003946464.1 RNA Sequence

    6. XR_004934089.1 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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