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

Gene ID: 79728, updated on 29-Mar-2023

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
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
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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_2023_03 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (23603165..23641310, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (23878974..23917118, complement)
105.20220307 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_chr16:23569290-23569933 Neighboring gene ubiquitin family domain containing 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23653060-23653849 Neighboring gene dynactin subunit 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23698309-23698810 Neighboring gene polo like kinase 1

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
  • 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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Related articles in PubMed

  1. Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan. Muhammad N, et al. HPB (Oxford), 2022 Dec. PMID 36175305
  2. PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina. Gonzalez A, et al. Breast Cancer Res Treat, 2022 Jul. PMID 35610400
  3. Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing. Li N, et al. J Med Genet, 2023 Feb. PMID 35396271
  4. Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data. Eyries M, et al. Eur J Hum Genet, 2022 Oct. PMID 35277653,
  5. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants. Valenzuela-Palomo A, et al. J Pathol, 2022 Mar. PMID 34846068, Free PMC Article

See all (269) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
    Title: Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
  3. Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan.
    Title: Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan.
  4. Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data.
    Title: Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data.
  5. Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
    Title: Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
  6. Germline mutations in Chinese ovarian cancer with or without breast cancer.
    Title: Germline mutations in Chinese ovarian cancer with or without breast cancer.
  7. Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
    Title: Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
  8. PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
    Title: PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
  9. Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.
    Title: Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.
  10. Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
    Title: Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
Submit: New GeneRIF Correction See all GeneRIFs (207)

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

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)

Genotypes

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
 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 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
 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
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
 PubMed 
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

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

    Status: REVIEWED

    Source sequence(s)
    AC008870

  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

  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
    I3L3R6

  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
    I3L3R6

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

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
    UniProtKB/TrEMBL
    I3L3R6

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

    Status: REVIEWED

    Source sequence(s)
    AC008870, KC877588
    UniProtKB/TrEMBL
    A0A8V8TKZ4

  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

  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

  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
    Q86YC2, Q9H6W1
    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_2023_03

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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