FANCD2 [The Human Chemical-Genetic Interaction Map Project]

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======= FANCD2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: FANCD2
  * **<color #00a2e8>Official Name</color>**: FA complementation group D2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2177|2177]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9BXW9|Q9BXW9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FANCD2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FANCD2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613984|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching. {ECO:0000269|PubMed:11239453, ECO:0000269|PubMed:11239454, ECO:0000269|PubMed:12086603, ECO:0000269|PubMed:12239151, ECO:0000269|PubMed:14517836, ECO:0000269|PubMed:15115758, ECO:0000269|PubMed:15314022, ECO:0000269|PubMed:15377654, ECO:0000269|PubMed:15454491, ECO:0000269|PubMed:15650050, ECO:0000269|PubMed:15661754, ECO:0000269|PubMed:15671039, ECO:0000269|PubMed:19465921}.

<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'>
|regulation of CD40 signaling pathway|
|DNA polymerase binding|
|neuronal stem cell population maintenance|
|condensed chromosome|
|regulation of regulatory T cell differentiation|
|brain morphogenesis|
|synapsis|
|interstrand cross-link repair|
|response to gamma radiation|
|homologous chromosome segregation|
|chromosome organization involved in meiotic cell cycle|
|meiotic chromosome segregation|
|meiosis I|
|meiosis I cell cycle process|
|stem cell population maintenance|
|maintenance of cell number|
|regulation of T cell differentiation|
|response to ionizing radiation|
|meiotic nuclear division|
|meiotic cell cycle process|
|regulation of lymphocyte differentiation|
|nuclear chromosome segregation|
|meiotic cell cycle|
|cellular response to oxidative stress|
|regulation of leukocyte differentiation|
|chromosome segregation|
|nuclear body|
|nuclear division|
|organelle fission|
|regulation of T cell activation|
|regulation of inflammatory response|
|response to oxidative stress|
|regulation of DNA-binding transcription factor activity|
|response to radiation|
|regulation of hemopoiesis|
|DNA repair|
|regulation of lymphocyte activation|
|regulation of leukocyte activation|
|regulation of cell activation|
|gamete generation|
|brain development|
|DNA metabolic process|
|regulation of defense response|
|cellular response to DNA damage stimulus|
|head development|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|nucleolus|
|animal organ morphogenesis|
|central nervous system development|
|multi-organism reproductive process|
|cell cycle process|
|chromosome organization|
|regulation of response to external stimulus|
|response to abiotic stimulus|
|cell cycle|
|reproductive process|
|reproduction|
|regulation of response to stress|
|regulation of immune system process|
|cellular response to stress|
|regulation of cell differentiation|
</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:exp354|Diepoxybutane 3μM R07 exp354]]|-3.04|
|[[:results:exp2|5-Fluorouracil 20μM R00 exp2]]|-2.06|
|[[:results:exp187|proTAME 5μM R04 exp187]]|-1.95|
|[[:results:exp59|UMK57 1μM R01 exp59]]|-1.9|
|[[:results:exp512|Olaparib 4μM R08 exp512]]|-1.8|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:c:c17orf70|C17orf70]]|0.497|
|[[:human genes:f:fance|FANCE]]|0.493|
|[[:human genes:f:fancg|FANCG]]|0.455|
|[[:human genes:f:fanca|FANCA]]|0.44|
|[[:human genes:g:golga6l1|GOLGA6L1]]|0.428|
|[[:human genes:f:fanci|FANCI]]|0.424|
|[[:human genes:f:fancf|FANCF]]|0.412|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 2/739
^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|0/56|
|cervix|0/4|
|colorectal|1/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 672
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.55 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='FANCD2 Expression in NALM6 Cells: 7.55'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>