CFB - complement factor B Gene

Also Known as BF; FB; BFD; GBG; CFAB; CFBD; PBF2; AHUS4; FBI12; H2-Bf; ARMD14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 629

About CFB

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,946,095-31,952,084 (from NCBI)

This gene has 21 transcripts (splice variants), 1 gene allele, 198 orthologues, 39 paralogues and is associated with 5 phenotypes. Biased expression in liver (RPKM 870.3), gall bladder (RPKM 108.2) and 2 other tissues.

Summary

This gene encodes Complement Factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement Factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for Complement Component 2. [provided by RefSeq, Jul 2008]

CFB Products (1)

mRNA	Protein	Name
NM_001710.6	NP_001701.2	complement factor B preproprotein

CFB Protein Structure

Sushi

VWA

Trypsin

Sushi

VWA

Trypsin

0
200
400
600
800
1000
1200
1266 a.a.

Protein Preferred Names	Protein Names
complement factor B	B-factor, properdin

CFB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	CFB	P00751	CFHR4	Homo sapiens	Q92496-1	ELISA	22518841
Intra	CFB	P00751	CFHR4	Homo sapiens	Q92496-3	ELISA	22518841
Intra	CFB	P00751	C3	Homo sapiens	P01024	SPR	19255449

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CFB Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P7813	Complement Factor B/CFB Protein, Human (HEK293, His)	AAH04143.1 (T26-L764)	≥ 90%, as determined by reducing SDS-PAGE.

CFB Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P83239	Complement factor B Antibody (YA2984)	WB	Human

Related Diseases

Diseases	Alias
Hemolytic Uremic Syndrome, Atypical 4	AHUS4 Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 Atypical Hemolytic-Uremic Syndrome With B Factor Anomaly Ahus 4 Ahus, Susceptibility To, 4 Hemolytic Uremic Syndrome Atypical 4 Atypical Hemolytic Uremic Syndrome With B Factor Anomaly
Complement Factor B Deficiency	CFBD Factor B Deficiency Deficiency, Complement Factor B
Macular Degeneration, Age-Related, 14	Age Related Macular Degeneration 14 ARMD14 Macular Degeneration, Age-Related, 14, Reduced Risk Of Macular Degeneration, Age-Related, Type 14
Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality	Atypical Hus With Complement Gene Abnormality Ahus With Complement Gene Abnormality
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome Haemolytic-Uraemic Syndrome Hus Acute Renal Failure, Thrombocytopenia, And Microangiopathic Hemolytic Anemia Associated With Distorted Erythrocytes Typical Haemolytic Uraemic Syndrome Gasser Syndrome Hus - [Haemolytic Uraemic Syndrome]
Retinal Drusen
Choroiditis	Posterior Uveitis
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Cicatricial Pemphigoid	Mucous Membrane Pemphigoid Ocular Pemphigoid Benign Mucous Membrane Pemphigoid Benign Mucous Membrane Pemphigoid With Ocular Involvement Benign Mucosal Pemphigoid Pemphigoid, Benign Mucous Membrane Cicatricial Pemphigoid With Ocular Involvement Ocular Pemphigus Cicatricial Pemphigoid Disease Mucosal Pemphigoid Mucosynechial Pemphigoid Pemphigoid Cicatricial Cicatricial Pemphigoid Involving The Eye Ocular Cicatricial Pemphigoid
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Basal Laminar Drusen	Drusen Of Bruch Membrane Drusen, Cuticular Drusen, Early Adult-Onset, Grouped Cuticular Drusen Early Adult-Onset Grouped Drusen BLD Drusen Cuticular Drusen Early Adult-Onset Grouped
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Complement Deficiency	Complement Deficiency Disease Hereditary Complement Deficiency Diseases
Hemolytic Uremic Syndrome, Atypical 1	Atypical Hemolytic-Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To Ahus AHUS1 Hemolytic-Uremic Syndrome Ahus 1 Ahus, Susceptibility To, 1 Hemolytic Uremic Syndrome, Atypical Non-Shiga-Like Toxin-Associated Hus Non-Stx-Hus Nonenteropathic Hus Atypical Hus Shiga Toxin-Associated Hemolytic Uremic Syndrome D+ Hus Ehec-Hus Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli Hemolytic Uremic Syndrome With Diarrhea Stec-Hus Shiga-Like Toxin-Associated Hus Stx-Hus Typical Hus Typical Hemolytic Uremic Syndrome Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies Atypical Hus With Anti-Factor H Antibodies Ahus With Anti-Factor H Antibodies Ahus With Neutralizing Autoantibodies Against Factor H Hemolytic Uremic Syndrome Atypical 1 Atypical Hemolytic Uremic Syndrome With H Factor Anomaly D Hus Hemolytic-Uremic Syndrome Without Diarrhea Hemolytic-Uremic Syndrome, Atypical, Type 1 Hemolytic Uremic Syndrome, Typical
Middle Lobe Syndrome
Kuhnt-Junius Degeneration	Neovascular Age-Related Macular Degeneration Exudative Senile Macular Degeneration Of Retina Senile Macular Degeneration, Wet Wet Senile Macular Retinal Degeneration Exudative Age-Related Macular Degeneration Exudative Macular Degeneration
Vulvar Angiokeratoma	Fordyce Angiokeratoma Of Vulva Angiokeratoma Of Vulva
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Methylmalonic Aciduria And Homocystinuria, Cblc Type	MAHCC Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic Methylmalonic Aciduria And Homocystinuria Type Cblc Cobalamin C Disease Methylmalonic Acidemia With Homocystinuria Cblc Methylmalonic Acidemia And Homocystinuria, Cblc Type Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive Cobalamin C Deficiency Methylmalonic Acidemia With Homocystinuria, Type Cblc Cblc Defect Cobalamin C Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc Methylmalonic Aciduria With Homocystinuria, Type Cblc Methylmalonic Acidemia And Homocystinuria Cblc Type Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive Aciduria, Methylmalonic, And Homocystinuria, Cblc Type Methylmalonic Acidemia With Homocystinuria
Kidney Cortex Necrosis	Renal Cortical Necrosis
Membranoproliferative Glomerulonephritis	Mesangiocapillary Glomerulonephritis Dense Deposit Disease Membranoproliferative Glomerulonephritis Type 2 Primary Membranoproliferative Glomerulonephritis Mesangiocapillary Glomerulonephritis, Type Ii Glomerulonephritis, Membranoproliferative Chronic Glomerulonephritis, Lobular Lobular Glomerulonephritis Ddd Glomerulonephritis Membranoproliferative Type 2 Mpgn 2 Membranoproliferative Glomerulonephritis Type Ii Mesangiocapillary Glomerulonephritis Type 2 Mpgn Primary Mpgn Glomerulonephritis Membranoproliferative Membranoproliferative Glomerulonephritis, Type Ii
Malignant Hypertension	Hypertension, Malignant Hypertension Malignant
Autosomal Dominant Intellectual Developmental Disorder 8	Autosomal Dominant Non-Syndromic Intellectual Disability 8 Mental Retardation, Autosomal Dominant 8 Autosomal Dominant Mental Retardation 8 Mrd8
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Complement Component 2 Deficiency	C2D C2 Deficiency Complement 2 Deficiency Complement Component-2
Acute Poststreptococcal Glomerulonephritis	Post-Streptococcal Glomerulonephritis Acute Post-Streptococcal Glomerulonephritis
Eye Degenerative Disease
Macular Degeneration, Age-Related, 4	Age Related Macular Degeneration 4 ARMD4 Macular Degeneration, Age-Related, Type 4
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Phase
HY-148370A	Sefaxersen sodium	Inhibitor	99.46%	Phase 2

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-148370	Sefaxersen	Inhibitor	99.46%	Unkown
HY-174913	Factor B-IN-5	Inhibitor	/	Unkown
HY-RS02557	CFB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17438	Cfb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23894	Cfb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CFB	VGNC	VGNC:107285
Mus musculus	CFB	MGD	MGI:105975
Rattus norvegicus	CFB	RGD	RGD:2204