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

Gene ID: 79728, updated on 27-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
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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
  • 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. PALB2 and the risks for cancer: implications for clinical care. Smith EC. Oncol Nurs Forum, 2015 Jan. PMID 25542327
  2. Development and validation of molecular methodologies to assess PALB2 expression in sporadic breast cancer. Poumpouridou N, et al. Clin Biochem, 2016 Feb. PMID 26526077
  3. PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China. Li YT, et al. Eur J Med Res, 2015 Oct 21. PMID 26489409, Free PMC Article
  4. Analysis of PALB2 mutations in 155 Japanese patients with breast and/or ovarian cancer. Nakagomi H, et al. Int J Clin Oncol, 2016 Apr. PMID 26411315
  5. Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. Thompson ER, et al. Breast Cancer Res, 2015 Aug 19. PMID 26283626, Free PMC Article

See all (283) citations in PubMed

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
Compare labs
Hereditary cancer-predisposing syndrome
MedGen: C0027672 GeneReviews: Not available
Compare labs
Pancreatic cancer, susceptibility to, 3
MedGen: C3150547 OMIM: 613348 GeneReviews: Not available
Compare labs

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.

Chemical Information
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