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CFD (complement factor D)
Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1675
Gene nameGene Name - the full gene name approved by the HGNC.
Complement factor D
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CFD
SynonymsGene synonyms aliases
ADIPSIN, ADN, DF, PFD
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs104894667 C>A,T Pathogenic, uncertain-significance Coding sequence variant, missense variant, stop gained
rs267606720 T>G Pathogenic Missense variant, coding sequence variant
rs267606721 T>C Pathogenic Missense variant, coding sequence variant
rs1021715434 G>C Likely-pathogenic Splice acceptor variant
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0002576 Process Platelet degranulation TAS
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005576 Component Extracellular region TAS
GO:0006508 Process Proteolysis IEA
GO:0006956 Process Complement activation TAS 1374388
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P00746
Protein name Complement factor D (EC 3.4.21.46) (Adipsin) (C3 convertase activator) (Properdin factor D)
Protein function 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.
PDB 1BIO , 1DFP , 1DIC , 1DST , 1DSU , 1FDP , 1HFD , 2XW9 , 2XWA , 2XWB , 4CBN , 4CBO , 4D9R , 5FBE , 5FBI , 5FCK , 5MT0 , 5MT4 , 5NAR , 5NAT , 5NAW , 5NB6 , 5NB7 , 5NBA , 5TCA , 5TCC , 6FTY , 6FTZ , 6FUG , 6FUH , 6FUI , 6FUJ , 6FUT , 6QMR , 6QMT , 6VMJ , 6VMK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin
26 → 248
Trypsin
 Domain
Sequence
Sequence length 253
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Complement and coagulation cascades
Staphylococcus aureus infection
Coronavirus disease - COVID-19 		  Platelet degranulation
Alternative complement activation
Neutrophil degranulation
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Glomerulonephritis Glomerulonephritis rs778043831 14675043
Myocardial infarction Myocardial Failure rs12316150, rs41303970, rs909253, rs7291467, rs2234693 26670611
Pulmonary fibrosis Pulmonary Fibrosis rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578 22832039
Complement component deficiency Complement Factor D Deficiency, Complement deficiency disease rs387906509, rs1467298230, rs1022194067, rs-1, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814 16527897, 29522842
Unknown
Disease name Disease term dbSNP ID References
Heart failure Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741 26670611
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 26670611
Endometriosis Endometriosis rs1800629, rs-1, rs1143634 21063030
Alveolitis Alveolitis, Fibrosing 22832039

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