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Gene

PALB2

partner and localizer of BRCA2

Summary

Cytogenetic location
16p12.2
Coordinates
Chromosome 16: 23,603,165–23,641,310 (GRCh38)
Exons
13 exons across 38.1 kb
Protein
1,186 amino acids
Also known as
FLJ21816, FANCN
MANE Select transcript
ENST00000261584.9NM_024675.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • DNA Repair Disease

    • Autosomal recessive

      A disease that has its basis in the disruption of DNA repair.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

  • Fanconi Anemia

    • Autosomal recessive

      Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      Actionability

      Hematopoietic stem cell transplantation using FA-specific reduced-intensity conditioning; androgens (oxymetholone) as bridge therapy; cancer surveillance for head/neck and gynecological malignancies; gene therapy in clinical trials

  • Breast and Ovarian Cancer Genes Beyond BRCA1/2

    • Hereditary breast cancerAutosomal dominant

      Inherited susceptibility to breast cancer caused by variants in one of several genes.

      • 1 GenCC submitter rates it definitive or strong
      • On the ACMG secondary findings list
      Actionability

      Earlier and more intensive breast screening, including MRI, may be recommended depending on the gene.

  • PALB2 related diseases

    • Fanconi Anemia Complementation Group NAutosomal recessive

      Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
    • Pancreatic Cancer, Susceptibility To, 3Autosomal dominant

      Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.

      • 2 GenCC submitters rate it definitive or strong
    • PALB2-related cancer predispositionAutosomal dominant

      PALB2 variants that raise the risk of breast cancer and, to a lesser degree, pancreatic and ovarian cancer.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      Actionability

      Enhanced breast screening including MRI, with risk-reducing surgery discussed case by case.

How PALB2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 16, with a bracket where PALB2 sits. PALB2 and 13 genes near it on chromosome 16, from 23,122,238 to 24,122,237.Chromosome 1616p12.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.323.2 Mb23.4 Mb23.6 Mb23.8 Mb24 MbUSP31: 23,061,406–23,149,466, reverse strandUSP31SCNN1G: 23,182,677–23,216,883, forward strandSCNN1GSCNN1B: 23,278,231–23,381,299, forward strandSCNN1BCOG7: 23,388,493–23,453,210, reverse strandCOG7GGA2: 23,462,213–23,521,995, reverse strandGGA2EARS2: 23,520,754–23,557,731, reverse strandEARS2UBFD1: 23,557,557–23,574,394, forward strandUBFD1NDUFAB1: 23,580,952–23,596,328, reverse strandNDUFAB1PALB2: 23,603,165–23,641,310, reverse strandPALB2DCTN5: 23,641,380–23,677,472, forward strandDCTN5PLK1: 23,677,656–23,690,372, forward strandPLK1ERN2: 23,688,117–23,713,255, reverse strandERN2CHP2: 23,754,618–23,759,058, forward strandCHP2PRKCB: 23,835,939–24,220,611, forward strandPRKCBDiagram of PALB2: 13 exons on the reverse strand of chromosome 16Exon 13: 49 known disease-causing sitesExon 12: 50 known disease-causing sitesExon 11: 26 known disease-causing sitesExon 10: 31 known disease-causing sitesExon 9: 39 known disease-causing sitesExon 8: 20 known disease-causing sitesExon 7: 41 known disease-causing sitesExon 6: 23 known disease-causing sitesExon 5: 234 known disease-causing sitesExon 4: 436 known disease-causing sitesExon 3: 27 known disease-causing sitesExon 2: 23 known disease-causing sitesExon 1: 23 known disease-causing sitesExon 13: 23,603,165–23,603,669, 505 bases. 24 variants with a page in exon 13. List themExon 12: 23,607,864–23,608,012, 149 bases. 20 variants with a page in exon 12. List themExon 11: 23,614,004–23,614,091, 88 bases. 11 variants with a page in exon 11. List themExon 10: 23,621,362–23,621,478, 117 bases. 18 variants with a page in exon 10. List themExon 9: 23,622,969–23,623,130, 162 bases. 22 variants with a page in exon 9. List themExon 8: 23,624,009–23,624,094, 86 bases. 13 variants with a page in exon 8. List themExon 7: 23,626,236–23,626,397, 162 bases. 26 variants with a page in exon 7. List themExon 6: 23,629,204–23,629,275, 72 bases. 7 variants with a page in exon 6. List themExon 5: 23,629,640–23,630,469, 830 bases. 108 variants with a page in exon 5. List themExon 4: 23,634,862–23,636,334, 1,473 bases. 225 variants with a page in exon 4. List themExon 3: 23,637,850–23,637,952, 103 bases. 9 variants with a page in exon 3. List themExon 2: 23,638,070–23,638,129, 60 bases. 10 variants with a page in exon 2. List themExon 1: 23,641,110–23,641,310, 201 bases. 10 variants with a page in exon 1. List them131210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4 kb of the gene's 38.1 kb; 3,561 of those bases code for the protein.

Sequencing PALB2

1,092

positions in PALB2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 38.1 kb of PALB2, introns included, not only the 4 kb of exons.

Variants with a page (552)

The PALB2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A842Sfs*7c.2524_2535delinsTCAGAExon 623,629,255Pathogenic3 stars out of 4 reviewed by expert panel
c.108+1_108+2insCIntron 223,638,068Likely pathogenic3 stars out of 4 reviewed by expert panel
c.2559C>TExon 623,629,231Likely pathogenic3 stars out of 4 reviewed by expert panel
c.3350+4A>GIntron 1223,607,860Likely pathogenic3 stars out of 4 reviewed by expert panel
c.3549C>AExon 1323,603,471Pathogenic3 stars out of 4 reviewed by expert panel
E3Xc.7G>TExon 123,641,151Pathogenic3 stars out of 4 reviewed by expert panel
E178Nfs*15c.532delExon 423,636,013Pathogenic3 stars out of 4 reviewed by expert panel
G1121Vfs*3c.3362delExon 1323,603,657Likely pathogenic3 stars out of 4 reviewed by expert panel
L531Cfs*30c.1592delExon 423,634,953Pathogenic3 stars out of 4 reviewed by expert panel
N280Tfs*8c.839delExon 423,635,706Pathogenic3 stars out of 4 reviewed by expert panel

See all 552 PALB2 variants →

Genes linked to the same conditions

Traits linked to PALB2

The Human Phenotype Ontology lists these as features of the rare conditions PALB2 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). PALB2 gene: partner and localizer of BRCA2. Retrieved 17 October 2026, from https://dantelabs.com/genes/palb2

Vancouver

Dante Labs. PALB2 gene: partner and localizer of BRCA2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/palb2

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