CFP (complement factor properdin)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5199
Gene name Gene Name - the full gene name approved by the HGNC.
Complement factor properdin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFP
Synonyms (NCBI Gene) Gene synonyms aliases
BFD, PFC, PFD, PROPERDIN
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300383 8864 ENSG00000126759
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Properdin Deficiency, X-Linked properdin deficiency, x-linked rs132630258, rs28935480, rs132630260 N/A
Properdin Deficiency properdin deficiency, type iii rs132630261 N/A
Show/Hide Text Mining Associations (40)
Associations from Text Mining Disease 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