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CFB complement factor B [ Homo sapiens (human) ]

Gene ID: 629, updated on 27-Oct-2020

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
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

Genomic context

See CFB in Genome Data Viewer
Location:
6p21.33
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31946095..31952084)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31913721..31919861)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 12 Neighboring gene complement C2 Neighboring gene C2 antisense RNA 1 Neighboring gene negative elongation factor complex member E Neighboring gene microRNA 1236 Neighboring gene Ski2 like RNA helicase Neighboring gene decapping exoribonuclease

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Age-related macular degeneration 14
MedGen: C3809653 OMIM: 615489 GeneReviews: Not available
Compare labs
Atypical hemolytic-uremic syndrome 4 Compare labs
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
GeneReviews: Not available
Complement factor B deficiency
MedGen: C3809950 OMIM: 615561 GeneReviews: Not available
Compare labs
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
GeneReviews: Not available
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
GeneReviews: Not available
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
GeneReviews: Not available
Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.
GeneReviews: Not available
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
GeneReviews: Not available
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
GeneReviews: Not available
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
GeneReviews: Not available
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
GeneReviews: Not available
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available
Seven new loci associated with age-related macular degeneration.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: C2

Homology

Clone Names

  • FLJ54899

Gene Ontology Provided by GOA

Function Evidence Code Pubs
complement binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
complement activation TAS
Traceable Author Statement
more info
 
complement activation, alternative pathway NAS
Non-traceable Author Statement
more info
PubMed 
complement activation, alternative pathway TAS
Traceable Author Statement
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of complement activation TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
complement factor B
Names
B-factor, properdin
C3 proaccelerator
C3 proactivator
C3/C5 convertase
glycine-rich beta-glycoprotein
properdin factor B
NP_001701.2

NCBI Reference Sequences (RefSeq)

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

  1. NG_008191.1 RefSeqGene

    Range
    5001..11141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_136

mRNA and Protein(s)

  1. NM_001710.6NP_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
    P00751
    UniProtKB/TrEMBL
    A0A1U9X7H8
    Related
    ENSP00000416561.2, ENST00000425368.7
    Conserved Domains (4) summary
    cd00033
    Location:103158
    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:5583
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00190
    Location:488755
    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:269466
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    31946095..31952084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3423522..3429511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    3193875..3199864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    3251072..3255741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    3288131..3294120
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    3202070..3208059
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    3247284..3253273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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