PALB2 [The Human Chemical-Genetic Interaction Map Project]

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======= PALB2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PALB2
  * **<color #00a2e8>Official Name</color>**: partner and localizer of BRCA2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79728|79728]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q86YC2|Q86YC2]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PALB2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PALB2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610355|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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}.

<button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|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|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp441|GSK-J4 1.5μM R08 exp441]]|-1.76|
|[[:results:exp237|NN-Diethyl-meta-toluamide 100μM R05 exp237]]|1.75|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^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|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1429
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.18 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PALB2 Expression in NALM6 Cells: 5.18'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>