1. Gene
  2. CFB - complement factor B Gene

CFB - complement factor B Gene

中文名称:补体因子 B

种属: Homo sapiens

同用名: BF; FB; BFD; GBG; CFAB; CFBD; PBF2; AHUS4; FBI12; H2-Bf; ARMD14

基因 ID: 629 | 基因类型: protein coding

关于 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.

功能概要

该基因编码补体因子 B,补体激活替代途径的一个组成部分。 B 因子作为单链多肽在血液中循环。替代途径激活后,它被补体因子 D 裂解,产生非催化链 Ba 和催化亚基 Bb。活性亚基 Bb 是一种丝氨酸蛋白酶,它与 C3b 结合形成旁路途径 C3 转化酶。 Bb 参与预激活 B 淋巴细胞的增殖,而 Ba 抑制其增殖。该基因定位于 6 号染色体上的主要组织相容性复合体 (MHC) III 类区域。该簇包括几个参与免疫反应调节的基因。该基因的多态性与年龄相关性黄斑变性风险降低有关。该基因的聚腺苷酸化位点距补体成分 2 基因的 5' 端 421 bp。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

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

CFB 蛋白结构

Sushi

Sushi: Sushi repeat (SCR repeat) (89 - 142)

VWA

VWA: von Willebrand factor type A domain (175 - 299)

Trypsin

Trypsin: Trypsin (320 - 524)

Sushi

Sushi: Sushi repeat (SCR repeat) (553 - 586)

Sushi

Sushi: Sushi repeat (SCR repeat) (605 - 657)

Sushi

Sushi: Sushi repeat (SCR repeat) (667 - 720)

VWA

VWA: von Willebrand factor type A domain (772 - 970)

Trypsin

Trypsin: Trypsin (985 - 1244)

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  • 1266 a.a.
蛋白主名 其他名称

complement factor B

B-factor, properdin

重组 CFB 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7813 Complement Factor B/CFB Protein, Human (HEK293, His) AAH04143.1 (T26-L764) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Bos taurus CFB VGNC VGNC:107285
Mus musculus CFB MGD MGI:105975
Rattus norvegicus CFB RGD RGD:2204