CFB - complement factor B Gene

Homo sapiens

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

Gene ID: 629 | Gene type: protein coding

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
1266 a.a.

Protein Preferred Names

Protein Names

complement factor B

B-factor, properdin

CFB Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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.	Product Name	Accession	Purity
HY-P7813	Complement Factor B/CFB Protein, Human (HEK293, His)	AAH04143.1 (T26-L764)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-148370	IONIS-FB-LRx	Inhibitor	/	Phase 2

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-148370A	IONIS-FB-LRx sodium	Inhibitor	93.90%	Unkown
HY-RS02557	CFB Human Pre-designed siRNA Set A	Pre-designed Sets	/	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