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Ask your administrator if you think this is wrong. ======= CFD ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: CFD * **<color #00a2e8>Official Name</color>**: complement factor D * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1675|1675]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P00746|P00746]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CFD&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CFD|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/134350|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]. * **<color #00a2e8>UniProt Summary</color>**: Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway. <button type='primary' 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'> |DUF1986| |Trypsin| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |complement activation, alternative pathway| |serine-type peptidase activity| |platelet alpha granule lumen| |secretory granule lumen| |ficolin-1-rich granule lumen| |Notch signaling pathway| |platelet degranulation| |serine-type endopeptidase activity| |complement activation| |humoral immune response| |neutrophil degranulation| |neutrophil activation involved in immune response| |neutrophil mediated immunity| |neutrophil activation| |granulocyte activation| |leukocyte degranulation| |myeloid leukocyte mediated immunity| |myeloid cell activation involved in immune response| |myeloid leukocyte activation| |leukocyte activation involved in immune response| |cell activation involved in immune response| |activation of immune response| |regulated exocytosis| |innate immune response| |leukocyte mediated immunity| |exocytosis| |positive regulation of immune response| |leukocyte activation| |defense response to other organism| |secretion by cell| |export from cell| |cell activation| |immune effector process| |secretion| |regulation of immune response| |positive regulation of immune system process| |proteolysis| |response to other organism| |response to external biotic stimulus| |response to biotic stimulus| |defense response| |regulation of immune system process| |immune response| |extracellular region| |vesicle-mediated transport| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' 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:exp345|Cidofovir 10μM R07 exp345]]|-1.7| |[[:results:exp23|Nocodazole 0.02μM R00 exp23]]|1.81| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 1/739 ^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|0/17| |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|1/16| |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>**: 5471 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.18 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='CFD Expression in NALM6 Cells: -0.18'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1