CFP (complement factor properdin)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5199
Gene name Complement factor properdin
Gene symbol CFP
Synonyms (NCBI Gene)
BFDPFCPFDPROPERDIN
Chromosome X
Chromosome location Xp11.23
Summary This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes i
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs28935480 C>A Pathogenic Coding sequence variant, missense variant
rs132630258 G>A Pathogenic Coding sequence variant, stop gained
rs132630259 G>A Pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
rs132630260 G>C Pathogenic Coding sequence variant, stop gained
rs132630261 A>C,G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT016885 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 22518841, 24355864, 26984957, 28086806, 28480349, 28533443, 32296183
GO:0005576 Component Extracellular region HDA 20551380
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300383 8864 ENSG00000126759
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27918
Protein name Properdin (Complement factor P)
Protein function A positive regulator of the alternate pathway (AP) of complement (PubMed:16301317, PubMed:20382442, PubMed:28264884, PubMed:9748277). It binds to and stabilizes the C3- and C5-convertase enzyme complexes (PubMed:16301317, PubMed:20382442, PubMed
PDB 1W0R , 1W0S , 6RUR , 6RUS , 6RUV , 6RV6 , 6S08 , 6S0A , 6S0B , 6SEJ , 7B26 , 7NOZ , 8Q6R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18487 TSR 28 → 77 Repeat
PF00090 TSP_1 81 → 133 Thrombospondin type 1 domain Domain
PF00090 TSP_1 140 → 190 Thrombospondin type 1 domain Domain
PF00090 TSP_1 197 → 254 Thrombospondin type 1 domain Domain
PF00090 TSP_1 261 → 312 Thrombospondin type 1 domain Domain
PF00090 TSP_1 319 → 376 Thrombospondin type 1 domain Domain
PF00090 TSP_1 383 → 417 Thrombospondin type 1 domain Domain
Sequence
Sequence length 469
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Herpes simplex virus 1 infection   Alternative complement activation
Activation of C3 and C5
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Neutrophil degranulation
Regulation of Complement cascade
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Properdin deficiency, type III Pathogenic rs132630261 RCV000011935
Properdin deficiency, X-linked Pathogenic; Likely pathogenic rs132630258, rs28935480, rs132630260, rs2519716790 RCV000011931
RCV000011933
RCV000011934
RCV003990283
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CFP-related disorder Benign; Likely benign; Uncertain significance rs374687577, rs768994510, rs185246758, rs138456565, rs371132642, rs761962858, rs138490907, rs61737993 RCV003921104
RCV003426279
RCV003976247
RCV003893124
RCV003913763
RCV003907834
RCV003933884
RCV003950550
Nonpapillary renal cell carcinoma Uncertain significance rs145814387 RCV005932033
Properdin deficiency, type II Uncertain significance rs132630259 RCV000011932
Show/Hide Text Mining Associations (40)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 33542722
Adenocarcinoma of Lung Associate 38204755
Allergic Fungal Sinusitis Associate 16539307
Atrial Fibrillation Associate 32389013
Brain Neoplasms Associate 26849056
Carcinoma Hepatocellular Inhibit 33542722
Carcinoma Hepatocellular Associate 34813686
Cataract Associate 22140512
Colitis Ulcerative Stimulate 34183667
Complement Factor H Deficiency Associate 26432903, 26660535