Cfb complement factor B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfbprovided by MGI
Official Full Name: complement factor Bprovided by MGI
Primary source: MGI:MGI:105975
See related: Ensembl:ENSMUSG00000090231 AllianceGenome:MGI:105975
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bf; C2; Fb; H2-Bf
Summary: Predicted to enable serine-type endopeptidase activity. Acts upstream of or within complement activation, alternative pathway. Predicted to be located in extracellular region. Is expressed in embryo and liver lobe. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; autoimmune disease (multiple); eye disease (multiple); glomerulonephritis (multiple); and sickle cell anemia. Orthologous to human CFB (complement factor B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver E18 (RPKM 279.0), liver adult (RPKM 221.3) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 B1; 17 18.41 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (35075350..35081492, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (34856374..34862514, complement)

Chromosome 17 - NC_000083.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration.
Title: Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration.
Deficiency of CFB attenuates renal tubulointerstitial damage by inhibiting ceramide synthesis in diabetic kidney disease.
Title: Deficiency of CFB attenuates renal tubulointerstitial damage by inhibiting ceramide synthesis in diabetic kidney disease.
Complement factor B in high glucose-induced podocyte injury and diabetic kidney disease.
Title: Complement factor B in high glucose-induced podocyte injury and diabetic kidney disease.
Complement Factor B Mediates Ocular Angiogenesis through Regulating the VEGF Signaling Pathway.
Title: Complement Factor B Mediates Ocular Angiogenesis through Regulating the VEGF Signaling Pathway.
Changes in complement alternative pathway components, factor B and factor H during dengue virus infection in the AG129 mouse.
Title: Changes in complement alternative pathway components, factor B and factor H during dengue virus infection in the AG129 mouse.
Complement component factor B has thrombin-like activity.
Title: Complement component factor B has thrombin-like activity.
Toxoplasma Infection Induces Sustained Up-Regulation of Complement Factor B and C5a Receptor in the Mouse Brain via Microglial Activation: Implication for the Alternative Complement Pathway Activation and Anaphylatoxin Signaling in Cerebral Toxoplasmosis.
Title: Toxoplasma Infection Induces Sustained Up-Regulation of Complement Factor B and C5a Receptor in the Mouse Brain via Microglial Activation: Implication for the Alternative Complement Pathway Activation and Anaphylatoxin Signaling in Cerebral Toxoplasmosis.
These data suggest that properdin insufficiency promotes a tumour environment that helps the tumour evade the immune response
Title: Tumour cell conditioned medium reveals greater M2 skewing of macrophages in the absence of properdin.
CfB plays a crucial role in late-phase of adipocyte differentiation and subsequent lipid droplet formation.
Title: Adipose tissue complement factor B promotes adipocyte maturation.
AP inhibitors not only prevent, but have the potential to accelerate the clearance of complement-mediated ocular injury. Improving our understanding of the regulation of the AP is paramount to developing novel treatment approaches for AMD.
Title: A Targeted Inhibitor of the Alternative Complement Pathway Accelerates Recovery From Smoke-Induced Ocular Injury.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C2 (e-PCR), detects polymorphism
- UniSTS:257036

AI255840 (e-PCR)
- UniSTS:181007

D17916 (e-PCR)
- UniSTS:124740

AI195813 (e-PCR)
- UniSTS:160646

M57891 (e-PCR)
- UniSTS:160651

Cfb (e-PCR), detects polymorphism
- UniSTS:531085

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables serine-type peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within B cell proliferation	TAS Traceable Author Statement more info	PubMed
involved_in complement activation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within complement activation, alternative pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within complement activation, alternative pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within complement activation, alternative pathway	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within immune system process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within innate immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation 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 extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: complement factor B

Names: C3/C5 convertase; Factor B; alternative-complement pathway C3/C5 convertase; complement component 2 (within H-2S); histocompatibility 2, complement component factor B; properdin

NP_001136178.1

EC 3.4.21.47

NP_001389804.1

EC 3.4.21.47

NP_032224.2

EC 3.4.21.47

XP_006523735.1

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.

mRNA and Protein(s)

NM_001142706.2 → NP_001136178.1 complement factor B isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

CT573030

Consensus CDS

CCDS50079.1

UniProtKB/TrEMBL

B8JJM6, F6XQ00

Related

ENSMUSP00000120990.2, ENSMUST00000154526.8

Conserved Domains (4) summary

cd00033
Location:102 → 157

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:54 → 82

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

cd01470
Location:268 → 465

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 ...

cl21584
Location:488 → 599

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 ...
NM_001402875.1 → NP_001389804.1 complement factor B isoform 3 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

CT573030
NM_008198.3 → NP_032224.2 complement factor B isoform 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

CT573030

Consensus CDS

CCDS28663.2

UniProtKB/Swiss-Prot

P04186

UniProtKB/TrEMBL

B8JJM5, Q3UEG8

Related

ENSMUSP00000025229.5, ENSMUST00000025229.11

Conserved Domains (5) summary

cd00033
Location:102 → 157

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:54 → 82

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

cd00190
Location:488 → 754

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:268 → 465

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 ...

pfam00089
Location:490 → 751

Trypsin; Trypsin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

35075350..35081492 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006523672.3 → XP_006523735.1 complement factor B isoform X2

See identical proteins and their annotated locations for XP_006523735.1

UniProtKB/TrEMBL

F6XQ00

Conserved Domains (4) summary

cd00033
Location:102 → 157

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:54 → 82

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

cd01470
Location:268 → 465

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 ...

cl21584
Location:488 → 599

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 ...