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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 C... See more...
Aliases for CFB Gene
Aliases for CFB Gene
External Ids for CFB Gene
- HGNC: 1037
- NCBI Entrez Gene: 629
- Ensembl: ENSG00000243649
- OMIM®: 138470
- UniProtKB/Swiss-Prot: P00751
Previous HGNC Symbols for CFB Gene
- BFD
- BF
Previous GeneCards Identifiers for CFB Gene
- GC06P032022
- GC06P031917
- GC06P031704
- GC06P031931
Summaries for CFB Gene
-
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]
GeneCards Summary for CFB Gene
CFB (Complement Factor B) is a Protein Coding gene. Diseases associated with CFB include Hemolytic Uremic Syndrome, Atypical 4 and Complement Factor B Deficiency. Among its related pathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and complement binding. An important paralog of this gene is ENSG00000244255.
UniProtKB/Swiss-Prot Summary for CFB Gene
-
Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2 fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5 convertase. It has also been implicated in proliferation and differentiation of preactivated B-lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba inhibits the proliferation of preactivated B-lymphocytes.
Additional gene information for CFB Gene
- HGNC (1037)
- NCBI Entrez Gene (629)
- Ensembl (ENSG00000243649)
- OMIM® (138470)
- UniProtKB/Swiss-Prot (P00751)
- Open Targets Platform(ENSG00000243649)
- Monarch Initiative
- Search for CFB at DataMed
- Search for CFB at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFB Gene
Genomics for CFB Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CFB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CFB on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFB
- Top Transcription factor binding sites by QIAGEN in the CFB gene promoter:
-
- C/EBPbeta
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- MyoD
- STAT1
Genomic Locations for CFB Gene
Latest Assembly
- chr6:31,945,650-31,952,084
- (GRCh38/hg38)
- Size:
- 6,435 bases
- Orientation:
- Plus strand
Previous Assembly
- chr6:31,913,872-31,919,861
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 5,990 bases
- Orientation:
- Plus strand
- chr6:31,895,475-31,919,861
- (GRCh37/hg19 by Ensembl)
- Size:
- 24,387 bases
- Orientation:
- Plus strand
Genomic View for CFB Gene
Genes around CFB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p21.33 by HGNC
- 6p21.33 by Entrez Gene
- 6p21.33 by Ensembl
CFB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CFB Gene
Proteins for CFB Gene
-
Protein details for CFB Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P00751-CFAB_HUMAN
- Recommended name:
- Complement factor B
- Protein Accession:
- P00751
- B0QZQ6
- O15006
- Q29944
- Q53F89
- Q5JP67
- Q5ST50
- Q96HX6
- Q9BTF5
- Q9BX92
Protein attributes for CFB Gene
- Size:
- 764 amino acids
- Molecular mass:
- 85533 Da
- Quaternary structure:
-
- Monomer (PubMed:19574954). Part of the C3-convertase enzyme complex comprised of Complement C3 beta chain (C3b) and Complement factor B Bb fragment (Bb) and CFP (PubMed:28264884, PubMed:31507604). Interacts to C3b; this interaction is dependent on the presence of Mg2+ (PubMed:28264884, PubMed:31507604). Interacts to CFP; this interaction contributes to the stabilization of the active C3-convertase enzyme complex (PubMed:31507604).
Three dimensional structures from OCA and Proteopedia for CFB Gene
Protein Expression for CFB Gene
Selected DME Specific Peptides for CFB Gene
- P00751:
-
- YNINGKK
- NPGIPIGTRKVG
- YVFGVGPLVNQ
- YEDHKLKSGTNTK
- VLTAAHC
- VTYHCSRGL
- ALIKLKNK
- GDSGGPL
- LRGSANRTCQ
- YGLVTYAT
- RPICLPCT
- GIPEFYDYDVAL
- MTDGLHNMGG
- PGEQQKRKIVLDPSGSMNIYLVLDGSDS
- KLKNKLKYGQT
- NINALASKKD
- ALQAVYSMMSW
- CPSGFYPYP
- QYRLEDSVTY
- LTAAHCF
- QVLPWLKEKLQ
- HVFKVKDME
- VFYQMIDE
- RDFHINL
- RPICLPCTEGTTRALRLP
- DFENGEYWPR
- GTRKVGSQYRLED
- LCGMVWEH
- CQEGGSWSGTEPSCQDSFMYD
- SEVVTPRFLCTGGV
- RPSKGHESCMGA
- WNRTRHVII
- IRPICLP
Post-translational modifications for CFB Gene
Other Protein References for CFB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences CFB / Complement Factor B Antibody (LS-B13829) and CFB / Complement Factor B Antibody (LS-B7934)
- NSJ Bioreagents Complement Factor B Antibody / CFB
- Novus Biologicals Antibodies for CFB
-
Abcam antibodies for CFB
- Invitrogen Antibodies for CFB (AFLGC-CFB)
- antibodies-online: Show 93 available Complement Factor B Antibodies ranked by validation data
- Compare Top Complement Factor B Antibodies
-
Recommended
- 149 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 7 IHC Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 4 RIA Antibodies (anti-human)
- 2 EIA Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 IP Antibodies (anti-human)
- 1 IA Antibody (anti-human)
- 41 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 36 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for CFB
-
Santa Cruz Biotechnology (SCBT) Antibodies for CFB
- Sino Biological Antibodies for CFB
Protein products for research
- G Biosciences Human Complement Factor B, Liquid
- Search Origene for MassSpec and Protein Over-expression Lysates for CFB
- Origene Custom Protein Services for CFB
- Sino Biological Recombinant Proteins for CFB
- Sino Biological Cell Lysates for CFB
- ProSpec Recombinant Proteins for CFB
-
ProSci Proteins for CFB
-
Abcam proteins for CFB
Assay products for research
- RayBiotech Custom Human CFB ELISA
- Novus Biologicals ELISA Kits for CFB
- antibodies-online: Show 94 available Complement Factor B Elisa Kits ranked by validation data
- Compare Top Complement Factor B Elisa Kits
-
Quality Products:
- ABIN6730898
- ABIN1114332
- ABIN414993
- ABIN2683797
- ABIN367087
- ABIN4947479
- ABIN1114847
- ABIN1440235
- ABIN5519943
- ABIN1028428
- ABIN1114331
- ABIN6720575
- ABIN415699
- ABIN1568954
- ABIN4947480
- ABIN367713
- ABIN1114846
- ABIN5519944
- ABIN627636
- ABIN5591693
- ABIN6720576
- ABIN1114333
- ABIN416450
- ABIN1568955
- ABIN5519945
- ABIN626814
- ABIN368158
- ABIN5653265
- ABIN2543303
- ABIN2946621
- ABIN1561973
- ABIN2851044
- ABIN1560907
- ABIN1052385
- ABIN4968280
Domains & Families for CFB Gene
Gene Families for CFB Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for CFB Gene
- InterPro:
- Blocks:
-
- Serine protease, trypsin family
- Chymotrypsin serine protease family (S1) signature
- Sushi domain/SCR domain/CCP module
- Von Willebrand factor type A domain signature
- ProtoNet:
Suggested Antigen Peptide Sequences for CFB Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ55673, highly similar to Complement factor B (EC 3.4.21.47) (B4E1Z4_HUMAN)
- Properdin factor B (CFAB_HUMAN)
- Complement factor B (D2KT84_HUMAN)
- Complement factor B preproprotein variant (Q53F89_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P00751UniProtKB/Swiss-Prot:
CFAB_HUMAN :- The unliganded VWA domain has an inactive 'locked' conformation whereby the scissile Arg-259|Lys-260 bond is protected from proteolytic activation.
- Belongs to the peptidase S1 family.
- Domain:
-
- The unliganded VWA domain has an inactive 'locked' conformation whereby the scissile Arg-259|Lys-260 bond is protected from proteolytic activation.
- Family:
-
- Belongs to the peptidase S1 family.
Function for CFB Gene
Molecular function for CFB Gene
- UniProtKB/Swiss-Prot Function:
- Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2 fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5 convertase. It has also been implicated in proliferation and differentiation of preactivated B-lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba inhibits the proliferation of preactivated B-lymphocytes.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=Cleavage of Arg-|-Ser bond in complement component C3 alpha-chain to yield C3a and C3b, and Arg-|-Xaa bond in complement component C5 alpha-chain to yield C5a and C5b.; EC=3.4.21.47;.
Enzyme Numbers (IUBMB) for CFB Gene
Phenotypes From GWAS Catalog for CFB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001848 | complement binding | TAS | 11367526 |
| GO:0004252 | serine-type endopeptidase activity | IEA,TAS | -- |
| GO:0005515 | protein binding | IPI | 19255449 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008236 | serine-type peptidase activity | IEA | -- |
Phenotypes for CFB Gene
- MGI mutant phenotypes for CFB:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for CFB:
Animal Models for CFB Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CFB - Starting at $85 >
- * CFB CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CFB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CFB
-
Santa Cruz Biotechnology (SCBT) CRISPR for CFB
miRNA for CFB Gene
- miRTarBase miRNAs that target CFB
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CFB
- Browse OriGene Inhibitory RNA Products For CFB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFB
Clone products for research
- Applied Biological Materials (abm): Clones for CFB - Starting at $45 >
- * CFB as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CFB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CFB
Cell Lines for research
-
Horizon Cell Lines for CFB
No data available for Transcription Factor Targets and HOMER Transcription for CFB Gene
Localization for CFB Gene
Subcellular locations from UniProtKB/Swiss-Prot for CFB Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Cell Junctions (2)
- Endoplasmic reticulum (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA,TAS | -- |
| GO:0005615 | extracellular space | HDA | 16502470 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0070062 | extracellular exosome | HDA | 23533145 |
| GO:0072562 | blood microparticle | HDA | 22516433 |
Pathways & Interactions for CFB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Complement Pathway |
Complement Pathway
.62
|
Alternative Complement Pathway
.01
|
| 2 | Immune response Lectin induced complement pathway |
Immune response Alternative complement pathway
.56
|
|
| 3 | Creation of C4 and C2 activators | ||
| 4 | Complement and coagulation cascades | ||
| 5 | Innate Immune System |
.61
|
|
Pathways by source for CFB Gene
2 BioSystems pathways for CFB Gene
7 Reactome pathways for CFB Gene
3 KEGG pathways for CFB Gene
1 GeneGo (Thomson Reuters) pathway for CFB Gene
- Immune response Alternative complement pathway
2 Qiagen pathways for CFB Gene
- Alternative Complement Pathway
- Complement Pathway
Interacting Proteins for CFB Gene
Selected Interacting proteins:
P00751-CFAB_HUMAN
ENSP00000416561
for CFB Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CFB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002376 | immune system process | IEA | -- |
| GO:0006508 | proteolysis | IEA | -- |
| GO:0006956 | complement activation | IEA,TAS | -- |
| GO:0006957 | complement activation, alternative pathway | TAS | -- |
| GO:0030449 | regulation of complement activation | TAS | -- |
Drugs & Compounds for CFB Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Zinc | Approved, Investigational | Pharma | Target | 1687 | ||
| zinc acetate | Approved, Investigational | Pharma | Target | 0 | ||
| 4-guanidinobenzoic acid | Experimental | Pharma | Target | 0 | ||
| Diisopropylphosphono Group | Experimental | Pharma | Target | 0 | ||
| MLN2222 | Investigational | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug products for research
- G Biosciences Human Complement Factor B, Liquid
Transcripts for CFB Gene
mRNA/cDNA for CFB Gene
- 1 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000425368 2476 nts (view in UCSC)
- ENST00000452035 1866 nts (view in UCSC)
- ENST00000460718 768 nts (view in UCSC)
- ENST00000461483 1277 nts (view in UCSC)
- ENST00000465750 568 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CFB - Starting at $85 >
- * CFB CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CFB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CFB
-
Santa Cruz Biotechnology (SCBT) CRISPR for CFB
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CFB
- Browse OriGene Inhibitory RNA Products For CFB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFB
Clone products for research
- Applied Biological Materials (abm): Clones for CFB - Starting at $45 >
- * CFB as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CFB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CFB
Relevant External Links for CFB Gene
- GeneLoc Exon Structure for
- CFB
Expression for CFB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Liver (Hepatobiliary System)
- Adipose (Muscoskeletal System)
- Epithelial Cells (Uncategorized)
-
Lung (Respiratory System)
mRNA differential expression in normal tissues according to GTEx for CFB Gene
This gene is overexpressed in Liver (x32.6).
This gene is overexpressed in Plasma (14.5), Synovial fluid (13.6), Serum (12.9), and Monocytes (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFB Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFB
SOURCE GeneReport for Unigene cluster for CFB Gene:
Hs.69771Evidence on tissue expression from TISSUES for CFB Gene
- Liver(4.8)
- Intestine(4.6)
- Blood(4.5)
- Bone marrow(4.4)
- Kidney(2.7)
- Eye(2.5)
- Nervous system(2.5)
- Skin(2.5)
- Heart(2.4)
- Stomach(2.4)
- Muscle(2.3)
- Spleen(2.2)
- Lung(2.1)
- Gall bladder(2.1)
- Lymph node(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CFB Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- urinary
Regions:
Head and neck:
- brain
- ear
- head
- meninges
- neck
Thorax:
- heart
- lung
Abdomen:
- abdominal wall
- appendix
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- uterus
General:
- blood
- blood vessel
- coagulation system
- red blood cell
- skin
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for CFB
-
OriGene qPCR primer pairs and template standards for CFB
Gene Expression Assays for research
No data available for mRNA Expression by UniProt/SwissProt for CFB Gene
Orthologs for CFB Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CFB 30 31 |
|
OneToMany | |
| Dog (Canis familiaris) |
Mammalia | CFB 30 |
|
||
| -- 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Cfb 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cfb 30 17 31 |
|
ManyToMany | |
| Gm20547 31 |
|
ManyToMany | |||
| Cow (Bos Taurus) |
Mammalia | CFB 30 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100491419 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | zgc:158446 30 31 |
|
ManyToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany |
- Species where no ortholog for CFB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for CFB Gene
- ENSEMBL:
- Gene Tree for CFB (if available)
- TreeFam:
- Gene Tree for CFB (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CFB: view image
Paralogs for CFB Gene
Paralogs for CFB Gene
(4) SIMAP similar genes for CFB Gene using alignment to 7 proteins:
- CFAB_HUMAN
- B4E1Z4_HUMAN
- C9JRT3_HUMAN
- F8WBL9_HUMAN
- H7C526_HUMAN
- H7C5H1_HUMAN
- Q53F89_HUMAN
Variants for CFB Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for CFB Gene
- CFAB_HUMAN-P00751
- Two major variants, F and S, and 2 minor variants, as well as at least 14 very rare variants, have been identified.
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFB Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 903818 | Uncertain Significance: Macular degeneration; Atypical hemolytic-uremic syndrome 4 | 31,949,439(+) |
C/T NM_001710.6(CFB):c.1290C>T (p.Val430=) |
SYNONYMOUS | |
| 903887 | Benign: Macular degeneration; Atypical hemolytic-uremic syndrome 4 | 31,951,241(+) |
T/G NM_001710.6(CFB):c.1953T>G (p.Asp651Glu) |
MISSENSE | |
| 903888 | Conflicting Interpretations: Macular degeneration; Atypical hemolytic-uremic syndrome 4 | 31,951,254(+) |
G/A NM_001710.6(CFB):c.1956+10G>A |
INTRON | |
| 903889 | Uncertain Significance: Macular degeneration; Atypical hemolytic-uremic syndrome 4 | 31,951,453(+) |
C/T NM_001710.6(CFB):c.2069C>T (p.Ala690Val) |
MISSENSE | |
| 904798 | Uncertain Significance: Macular degeneration; Atypical hemolytic-uremic syndrome 4 | 31,946,023(+) |
T/C NC_000006.12:g.31946023T>C |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv10403n54 | CNV | loss | 21841781 |
| dgv10404n54 | CNV | loss | 21841781 |
| dgv10463n54 | CNV | loss | 21841781 |
| esv2759415 | CNV | gain+loss | 17122850 |
| nsv1073969 | CNV | deletion | 25765185 |
| nsv1112900 | CNV | deletion | 24896259 |
| nsv1126749 | CNV | deletion | 24896259 |
| nsv428141 | CNV | gain+loss | 18775914 |
| nsv819433 | CNV | loss | 19587683 |
| nsv830628 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.88;
67.50% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CFB Gene
SNP Genotyping and Copy Number Assays for research
Disorders for CFB Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hemolytic uremic syndrome, atypical 4 |
|
|
| complement factor b deficiency |
|
|
| macular degeneration, age-related, 14 |
|
|
| atypical hemolytic uremic syndrome with complement gene abnormality |
|
|
| hemolytic uremic syndrome, atypical 1 |
|
Search CFB in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CFAB_HUMAN- Macular degeneration, age-related, 14 (ARMD14) [MIM:615489]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:16518403}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. Haplotype analyses have identified a statistically significant common risk haplotype and two protective haplotypes. CFB variant His-9 and C2 variant Asp-318, as well as CFB variant Gln-32 and a variant in intron 10 of C2, confer a significantly reduced risk of AMD. {ECO:0000269 PubMed:16518403}.
- Hemolytic uremic syndrome atypical 4 (AHUS4) [MIM:612924]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. {ECO:0000269 PubMed:17182750, ECO:0000269 PubMed:20513133}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype.
- Complement factor B deficiency (CFBD) [MIM:615561]: An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. {ECO:0000269 PubMed:24152280}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for CFB
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for CFB Gene
Publications for CFB Gene
- Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PMID: 20513133) Maga TK … Smith RJ (Human mutation 2010) 3 4 23 41
- Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort. (PMID: 20157618) McKay GJ … Silvestri G (Molecular vision 2010) 3 23 41
- The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. (PMID: 19696172) Kaur I … Chakrabarti S (Investigative ophthalmology & visual science 2010) 3 23 41
- Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study. (PMID: 20007824) Munch IC … Larsen M (Investigative ophthalmology & visual science 2010) 3 23 41
- Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study. (PMID: 19169232) Farwick A … Hense HW (Eye (London, England) 2009) 3 23 41
ExternalLinks
Products for CFB Gene
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