PALB2 |
Gene Facts External Data Attribution
- HGNC Symbol
- PALB2 (HGNC:26144) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- partner and localizer of BRCA2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ21816, FANCN
- %HI
- 58.94(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.01(Read more about gnomAD LOEUF score)
- Cytoband
- 16p12.2
- Genomic Coordinates
-
GRCh37/hg19: chr16:23614486-23652631 NCBI Ensembl UCSC GRCh38/hg38: chr16:23603165-23641310 NCBI Ensembl UCSC - MANE Select Transcript
- NM_024675.4 ENST00000261584.9 (Read more about MANE Select)
- Function
- Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks (PubMed:16793542, PubMed:19423707, PubMed:19369211, PubMed:22941656, PubMed:24141787, PubMed:28319063). Strongly stimulates the DNA strand- invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA) (PubMed:20871615). Functionally cooperates wi... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-27675
Curation Status:
Under Group Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)