======= PALB2 ======= == Gene Information == * **Official Symbol**: PALB2 * **Official Name**: partner and localizer of BRCA2 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79728|79728]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q86YC2|Q86YC2]] * **Interactions**: [[https://thebiogrid.org/search.php?search=PALB2&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PALB2|Open PubMed]] * **OMIM**: [[https://omim.org/entry/610355|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: 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 with RAD51AP1 in promoting of D-loop formation by RAD51 (PubMed:20871616). Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination (PubMed:19369211). Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair (PubMed:24141787). Essential partner of BRCA2 that promotes the localization and stability of BRCA2 (PubMed:16793542). Also enables its recombinational repair and checkpoint functions of BRCA2 (PubMed:16793542). May act by promoting stable association of BRCA2 with nuclear structures, allowing BRCA2 to escape the effects of proteasome-mediated degradation (PubMed:16793542). Binds DNA with high affinity for D loop, which comprises single- stranded, double-stranded and branched DNA structures (PubMed:20871616). May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with BRCA2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity (PubMed:24485656). {ECO:0000269|PubMed:16793542, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:19423707, ECO:0000269|PubMed:20871615, ECO:0000269|PubMed:20871616, ECO:0000269|PubMed:22941656, ECO:0000269|PubMed:24141787, ECO:0000269|PubMed:24485656, ECO:0000269|PubMed:28319063}. No Pfam Domain information is available for this gene. |inner cell mass cell proliferation| |blastocyst growth| |post-anal tail morphogenesis| |somitogenesis| |somite development| |multicellular organism growth| |segmentation| |blastocyst development| |double-strand break repair via homologous recombination| |recombinational repair| |mesoderm development| |double-strand break repair| |anterior/posterior pattern specification| |DNA recombination| |regionalization| |in utero embryonic development| |developmental growth| |growth| |embryonic organ development| |pattern specification process| |DNA repair| |cell population proliferation| |chordate embryonic development| |embryo development ending in birth or egg hatching| |DNA metabolic process| |cellular response to DNA damage stimulus| |negative regulation of apoptotic process| |anatomical structure formation involved in morphogenesis| |negative regulation of programmed cell death| |animal organ morphogenesis| |embryo development| |negative regulation of cell death| |epithelium development| |DNA binding| |regulation of apoptotic process| |regulation of programmed cell death| |regulation of cell death| |cellular response to stress| |tissue development| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp441|GSK-J4 1.5μM R08 exp441]]|-1.76| |[[:results:exp237|NN-Diethyl-meta-toluamide 100μM R05 exp237]]|1.75| ^Gene^Correlation^ |[[:human genes:a:apc2|APC2]]|0.444| |[[:human genes:f:fam86b2|FAM86B2]]|0.415| |[[:human genes:h:hap1|HAP1]]|0.412| |[[:human genes:t:tbc1d3l|TBC1D3L]]|0.408| |[[:human genes:a:aqr|AQR]]|0.408| |[[:human genes:t:tbc1d3k|TBC1D3K]]|0.407| |[[:human genes:t:tbc1d3e|TBC1D3E]]|0.406| |[[:human genes:t:tbc1d3i|TBC1D3I]]|0.406| |[[:human genes:t:tbc1d3g|TBC1D3G]]|0.405| |[[:human genes:t:tbc1d3c|TBC1D3C]]|0.404| |[[:human genes:r:rbbp5|RBBP5]]|0.404| Global Fraction of Cell Lines Where Essential: 12/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|2/56| |cervix|0/4| |colorectal|1/17| |esophagus|1/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|1/20| |lung|1/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|2/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|1/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 1429 * **Expression level (log2 read counts)**: 5.18 {{:chemogenomics:nalm6 dist.png?nolink |}}