CFB complement factor B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFBprovided by HGNC
Official Full Name: complement factor Bprovided by HGNC
Primary source: HGNC:HGNC:1037
See related: Ensembl:ENSG00000243649 MIM:138470; AllianceGenome:HGNC:1037
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BF; FB; BFD; GBG; CFAB; CFBD; PBF2; AHUS4; FBI12; H2-Bf; ARMD14
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]
Expression: Biased expression in liver (RPKM 870.3), gall bladder (RPKM 108.2) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (31946095..31952084)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (31799300..31805289)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (31913872..31919861)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Defective microbial sensing and clearance in perianal Crohn's disease: a role for complement factor B.
Title: Defective microbial sensing and clearance in perianal Crohn's disease: a role for complement factor B.
Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohn's disease and leads to impaired CFB cleavage and phagocytosis.
Title: Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohn's disease and leads to impaired CFB cleavage and phagocytosis.
Targeted genotyping of COVID-19 patients reveals a signature of complement C3 and factor B coding SNPs associated with severe infection.
Title: Targeted genotyping of COVID-19 patients reveals a signature of complement C3 and factor B coding SNPs associated with severe infection.
Functional variant rs12614 in CFB confers a low risk of IgA nephropathy by attenuating complement alternative pathway activation in Han Chinese.
Title: Functional variant rs12614 in CFB confers a low risk of IgA nephropathy by attenuating complement alternative pathway activation in Han Chinese.
Serum complement factor B is associated with disease activity and progression of idiopathic membranous nephropathy concomitant with IgA nephropathy.
Title: Serum complement factor B is associated with disease activity and progression of idiopathic membranous nephropathy concomitant with IgA nephropathy.
The prognostic value of plasma complement factor B (CFB) in thyroid carcinoma.
Title: The prognostic value of plasma complement factor B (CFB) in thyroid carcinoma.
A small fragment of factor B as a potential inhibitor of complement alternative pathway activity.
Title: A small fragment of factor B as a potential inhibitor of complement alternative pathway activity.
Inherited Kidney Complement Diseases.
Title: Inherited Kidney Complement Diseases.
Complement factor B regulates cellular senescence and is associated with poor prognosis in pancreatic cancer.
Title: Complement factor B regulates cellular senescence and is associated with poor prognosis in pancreatic cancer.
Association of genetic variants rs641153 (CFB), rs2230199 (C3), and rs1410996 (CFH) with age-related macular degeneration in a Brazilian population.
Title: Association of genetic variants rs641153 (CFB), rs2230199 (C3), and rs1410996 (CFH) with age-related macular degeneration in a Brazilian population.

Submit: New GeneRIF Correction See all GeneRIFs (108)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Age related macular degeneration 14 MedGen: C3809653 OMIM: 615489 GeneReviews: Not available	Compare labs
Atypical hemolytic-uremic syndrome with B factor anomaly MedGen: C2752038 OMIM: 612924 GeneReviews: Genetic Atypical Hemolytic-Uremic Syndrome	Compare labs
Complement factor b deficiency MedGen: C3809950 OMIM: 615561 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. EBI GWAS Catalog EBI GWAS CatalogPubMed
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seven new loci associated with age-related macular degeneration. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of complement factor B (CFB) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46865 (e-PCR)
- UniSTS:13369

SHGC-12705 (e-PCR)
- UniSTS:38784

SGC32658 (e-PCR)
- UniSTS:45443

C2_3011 (e-PCR)
- UniSTS:280470

WI-8686 (e-PCR)
- UniSTS:73117

RH15801 (e-PCR)
- UniSTS:30386

RH18075 (e-PCR)
- UniSTS:72393

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables complement binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in complement activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation, alternative pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in complement activation, alternative pathway	TAS Traceable Author Statement more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: complement factor B

Names: B-factor, properdin; C3 proaccelerator; C3 proactivator; C3/C5 convertase; glycine-rich beta-glycoprotein; properdin B; properdin factor B

NP_001701.2

EC 3.4.21.47

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008191.1 RefSeqGene

Range

5001..11141

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_136

mRNA and Protein(s)

NM_001710.6 → NP_001701.2 complement factor B preproprotein

See identical proteins and their annotated locations for NP_001701.2

Status: REVIEWED

Source sequence(s)

BC004143, CD689714, DC368322

Consensus CDS

CCDS4729.1

UniProtKB/Swiss-Prot

B0QZQ6, O15006, P00751, Q29944, Q53F89, Q5JP67, Q5ST50, Q96HX6, Q9BTF5, Q9BX92

UniProtKB/TrEMBL

A0A1U9X7H2, A0A1U9X7H5, A0A1U9X7H6, A0A1U9X7H7, A0A1U9X7H8, A0A1U9X7I0

Related

ENSP00000416561.2, ENST00000425368.7

Conserved Domains (4) summary

cd00033
Location:103 → 158

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

smart00032
Location:55 → 83

CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

cd00190
Location:488 → 755

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

cd01470
Location:269 → 466

vWA_complement_factors; Complement factors B and C2 are two critical proteases for complement activation. They both contain three CCP or Sushi domains, a trypsin-type serine protease domain and a single VWA domain with a conserved metal ion dependent adhesion site referred ...