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

    Gene ID: 79728, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:26144
    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; BROVCA5
    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
    mouse all
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    Genomic context

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    See PALB2 in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (23603165..23641310, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (23878974..23917118, complement)
    RS_2024_09 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 H3K27ac hESC enhancer GRCh37_chr16:23568645-23569289 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23569290-23569933 Neighboring gene ubiquitin family domain containing 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:23605373-23605549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7281 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:23651698-23651932 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23653060-23653849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10585 Neighboring gene dynactin subunit 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23698309-23698810 Neighboring gene polo like kinase 1 Neighboring gene endoplasmic reticulum to nucleus signaling 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.
      Title: Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.
    2. PALB2-mutated human mammary cells display a broad spectrum of morphological and functional abnormalities induced by increased TGFbeta signaling.
      Title: PALB2-mutated human mammary cells display a broad spectrum of morphological and functional abnormalities induced by increased TGFβ signaling.
    3. Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations.
      Title: Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations.
    4. Factors that differentiate cancer risk management decisions among females with pathogenic/likely pathogenic variants in PALB2, CHEK2, and ATM.
      Title: Factors that differentiate cancer risk management decisions among females with pathogenic/likely pathogenic variants in PALB2, CHEK2, and ATM.
    5. Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2.
      Title: Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2.
    6. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
      Title: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
    7. Low Expression of PALB2 is Associated With Poor Survival in Chinese Women With Primary Breast Cancer.
      Title: Low Expression of PALB2 is Associated With Poor Survival in Chinese Women With Primary Breast Cancer.
    8. PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients.
      Title: PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients.
    9. UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
      Title: UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
    10. Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population.
      Title: Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population.
    Submit: New GeneRIF Correction See all GeneRIFs (216)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Breast-ovarian cancer, familial, susceptibility to, 5
    MedGen: C5830615 OMIM: 620442 GeneReviews: Not available
    		not available
    Fanconi anemia complementation group N
    MedGen: C1835817 OMIM: 610832 GeneReviews: Fanconi Anemia
    		not available
    Hereditary cancer-predisposing syndrome
    MedGen: C0027672 GeneReviews: Not available
    		not available
    Pancreatic cancer, susceptibility to, 3
    MedGen: C3150547 OMIM: 613348 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog
    Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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 apoptotic process 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
    		  
    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
    part_of DNA repair complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001407296.1 → NP_001394225.1  partner and localizer of BRCA2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588

    2. NM_001407297.1 → NP_001394226.1  partner and localizer of BRCA2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588

    3. NM_001407298.1 → NP_001394227.1  partner and localizer of BRCA2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588
      Related
      ENSP00000513286.2, ENST00000697377.2

    4. NM_001407299.1 → NP_001394228.1  partner and localizer of BRCA2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC008870
      UniProtKB/TrEMBL
      A0AAQ5BGU0
      Related
      ENSP00000519076.1, ENST00000713774.1

    5. NM_001407300.1 → NP_001394229.1  partner and localizer of BRCA2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588

    6. NM_001407301.1 → NP_001394230.1  partner and localizer of BRCA2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588
      UniProtKB/TrEMBL
      I3L1Z5
      Related
      ENSP00000459237.2, ENST00000566069.6

    7. NM_001407302.1 → NP_001394231.1  partner and localizer of BRCA2 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588

    8. NM_001407304.1 → NP_001394233.1  partner and localizer of BRCA2 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588
      UniProtKB/TrEMBL
      H3BN63, I3L3R6
      Related
      ENSP00000513284.1, ENST00000697374.1

    9. NM_001407305.1 → NP_001394234.1  partner and localizer of BRCA2 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588
      Consensus CDS
      CCDS92128.1
      UniProtKB/TrEMBL
      H3BN63, I3L3R6

    10. NM_001407306.1 → NP_001394235.1  partner and localizer of BRCA2 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588
      UniProtKB/TrEMBL
      H3BN63, I3L3R6
      Related
      ENSP00000454703.2, ENST00000568219.5

    11. NM_001407307.1 → NP_001394236.1  partner and localizer of BRCA2 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588

    12. NM_001407308.1 → NP_001394237.1  partner and localizer of BRCA2 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC008870

    13. NM_001407309.1 → NP_001394238.1  partner and localizer of BRCA2 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC008870

    14. NM_001407310.1 → NP_001394239.1  partner and localizer of BRCA2 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588
      UniProtKB/TrEMBL
      A0A8V8TMK8

    15. NM_001407311.1 → NP_001394240.1  partner and localizer of BRCA2 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588
      UniProtKB/TrEMBL
      A0A8V8TMK8
      Related
      ENSP00000513285.1, ENST00000697376.1

    16. NM_001407312.1 → NP_001394241.1  partner and localizer of BRCA2 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588

    17. NM_001407313.1 → NP_001394242.1  partner and localizer of BRCA2 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588

    18. NM_001407314.1 → NP_001394243.1  partner and localizer of BRCA2 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC008870, KC877588
      UniProtKB/TrEMBL
      A0A8V8TLC8
      Related
      ENSP00000513289.1, ENST00000697383.1

    19. NM_024675.4 → NP_078951.2  partner and localizer of BRCA2 isoform 1

      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
      A6NIE1, Q86YC2, Q8N7Y6, Q8ND31, Q9H6W1
      UniProtKB/TrEMBL
      A0AA52I2C1
      Related
      ENSP00000261584.4, ENST00000261584.9
      Conserved Domains (1) summary
      pfam16756
      Location:837 → 1184
      PALB2_WD40; Partner and localizer of BRCA2 WD40 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      23603165..23641310 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      23878974..23917118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YC2.1 GenPept UniProtKB/Swiss-Prot:Q86YC2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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