CFP (complement factor properdin)

2017-08-01  

Identity

HGNC
CFP
LOCATION
Xp11.23
LOCUSID
5199
ALIAS
BFD,PFC,PFD,PROPERDIN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5199
MIM: 300383
HGNC: 8864
Ensembl: ENSG00000126759

Variants:

dbSNP: 5199
ClinVar: 5199
TCGA: ENSG00000126759
COSMIC: CFP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126759ENST00000247153P27918
ENSG00000126759ENST00000247153A0A0S2Z4I5
ENSG00000126759ENST00000377005E9PAQ1
ENSG00000126759ENST00000396992P27918
ENSG00000126759ENST00000396992A0A0S2Z4I5
ENSG00000126759ENST00000469388C9J7V5

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635
Neutrophil degranulationREACTOMER-HSA-6798695

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
185797732008The complement protein properdin binds apoptotic T cells and promotes complement activation and phagocytosis.63
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
184907642008Properdin binds to late apoptotic and necrotic cells independently of C3b and regulates alternative pathway complement activation.56
203824422010Native polymeric forms of properdin selectively bind to targets and promote activation of the alternative pathway of complement.34
187532942008Complement activation by tubular cells is mediated by properdin binding.32
205302622010An evaluation of the role of properdin in alternative pathway activation on Neisseria meningitidis and Neisseria gonorrhoeae.32
236774682013Identification of a novel mode of complement activation on stimulated platelets mediated by properdin and C3(H2O).28
211351102011Identification of tubular heparan sulfate as a docking platform for the alternative complement component properdin in proteinuric renal disease.27
228154892012Factor h and properdin recognize different epitopes on renal tubular epithelial heparan sulfate.22

Citation

Dessen P

CFP (complement factor properdin)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56951/cfp