CFP (complement factor properdin)

Gene

• Entrez ID: 5199
• Gene name: Complement factor properdin
• Gene symbol: CFP
• Synonyms (NCBI Gene): BFD, PFC, PFD, PROPERDIN
• 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 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT016885	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

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
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	8530058
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006955	Process	Immune response	TAS	8530058
GO:0006956	Process	Complement activation	NAS	23901101
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0042742	Process	Defense response to bacterium	TAS	8530058
GO:0045087	Process	Innate immune response	IEA
GO:0045958	Process	Positive regulation of complement activation, alternative pathway	IDA	9748277, 16301317
GO:0050778	Process	Positive regulation of immune response	NAS	23901101
GO:0050821	Process	Protein stabilization	IDA	9748277, 16301317
GO:0098548	Component	Cytoplasmic side of Golgi membrane	IDA	23901101
GO:0098548	Component	Cytoplasmic side of Golgi membrane	NAS	23901101
GO:1903028	Process	Positive regulation of opsonization	NAS	23901101
GO:1904724	Component	Tertiary granule lumen	TAS

Other IDs

• MIM: 300383
• HGNC: 8864
• e!Ensembl: ENSG00000126759

Protein

• 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:

  MITEGAQAPRLLLPPLLLLLTLPATGSDPVLCFTQYEESSGKCKGLLGGGVSVEDCCLNT
  AFAYQKRSGGLCQPCRSPRWSLWSTWAPCSVTCSEGSQLRYRRCVGWNGQCSGKVAPGTL
  EWQLQACEDQQCCPEMGGWSGWGPWEPCSVTCSKGTRTRRRACNHPAPKCGGHCPGQAQE
  SEACDTQQVCPTHGAWATWGPWTPCSASCHGGPHEPKETRSRKCSAPEPSQKPPGKPCPG
  LAYEQRRCTGLPPCPVAGGWGPWGPVSPCPVTCGLGQTMEQRTCNHPVPQHGGPFCAGDA
  TRTHICNTAVPCPVDGEWDSWGEWSPCIRRNMKSISCQEIPGQQSRGRTCRGRKFDGHRC
  AGQQQDIRHCYSIQHCPLKGSWSEWSTWGLCMPPCGPNPTRARQRLCTPLLPKYPPTVSM
  VEGQGEKNVTFWGRPLPRCEELQGQKLVVEEKRPCLHVPACKDPEEEEL

• Sequence length: 469

Pathways

KEGG:

Herpes simplex virus 1 infection

Reactome:

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Properdin deficiency, type III	Pathogenic	rs132630261	RCV000011935	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Properdin deficiency, X-linked	Pathogenic; Likely pathogenic	rs132630258, rs28935480, rs132630260, rs2519716790	RCV000011931 RCV000011933 RCV000011934 RCV003990283	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFP-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Properdin deficiency, type II	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	20122735, 22024702		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	28618657		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26325222, 28190035, 28579485, 29373121		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	26325222, 28190035, 28579485, 29373121		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32389013	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	21596533, 29689282		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30804095		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28544426		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26849056	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30755730		★☆☆☆☆ Found in Text Mining only
C3 glomerulopathy	C3 Glomerulopathy	BEFREE	28139294, 29895552		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33542722	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34813686	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	22140512	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28567697, 30104335, 30210306, 30316555, 30318409		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	34183667	Stimulate	★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	6903190		★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement component deficiency	Pubtator	26432903, 26660535	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	34183667	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28567697, 29524099, 30375498, 31811669		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	31132923		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28652410		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22338105	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31647139		★☆☆☆☆ Found in Text Mining only
Dowling Degos Disease	Dowling degos disease	Pubtator	30487789	Associate	★☆☆☆☆ Found in Text Mining only
Dysphoric mood	Mood Disorder	BEFREE	29549852		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29952700		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	28652410		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	27153925	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32888289	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	22338105	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28544426, 28567697, 30104335, 30316555, 30318409, 30651328		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30199474		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30615602		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	8293722		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	24885016	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30141176		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	15155617, 17005781		★☆☆☆☆ Found in Text Mining only
Leukocyte Disorders	Leukocyte disorders	Pubtator	18791942	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22361279		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	22361279		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	25886501	Associate	★☆☆☆☆ Found in Text Mining only
Lysinuric Protein Intolerance	Lysinuric Protein Intolerance	BEFREE	23940088		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	25734512, 26078197, 27836117, 28944772, 30580237, 30914923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30755730		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17234158		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	2570030, 31391260		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	30383490		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28567697, 29524099, 30375498, 31811669		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29373121, 30651328		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	28487648		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28190035		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32389013	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30755730		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	30487789	Associate	★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	28480349		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	BEFREE	28714806		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29544516		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	8406438		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20206263, 28579485, 30478174		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	29390519		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31772271, 36293087, 36619572	Associate	★☆☆☆☆ Found in Text Mining only
Polyostotic fibrous dysplasia	Polyostotic Fibrous Dysplasia	BEFREE	30383490		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28836726		★☆☆☆☆ Found in Text Mining only
Progressive pseudorheumatoid dysplasia	Progressive Pseudorheumatoid Dysplasia	BEFREE	29312328		★☆☆☆☆ Found in Text Mining only
Properdin deficiency	Properdin Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Properdin deficiency disease	Properdin Deficiency	BEFREE	16337490		★☆☆☆☆ Found in Text Mining only
Properdin deficiency disease	Properdin Deficiency	GENOMICS_ENGLAND_DG	6903190		★☆☆☆☆ Found in Text Mining only
Properdin deficiency disease	Properdin Deficiency	ORPHANET_DG	8871668		★☆☆☆☆ Found in Text Mining only
Properdin Deficiency, Type II	Properdin Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Properdin Deficiency, Type III	Properdin Deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROPERDIN DEFICIENCY, X-LINKED	Properdin Deficiency, X-Linked	CTD_human_DG	10909851, 8530058		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROPERDIN DEFICIENCY, X-LINKED	Properdin Deficiency, X-Linked	UNIPROT_DG	10909851, 28264884, 31507604, 8871668, 9710744		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROPERDIN DEFICIENCY, X-LINKED	Properdin Deficiency, X-Linked	GENOMICS_ENGLAND_DG	26350204		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROPERDIN DEFICIENCY, X-LINKED	Properdin Deficiency, X-Linked	ORPHANET_DG	8871668		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROPERDIN DEFICIENCY, X-LINKED	Properdin Deficiency, X-Linked	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29695737	Stimulate	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	29783158		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28561452		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19566714, 21955727, 27070349, 28089652, 28214898, 28485403, 29973655, 30104335, 30318409		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25064094		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	LHGDN	18791942		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	23677468	Associate	★☆☆☆☆ Found in Text Mining only