Aliases for CFB Gene
Aliases for CFB Gene
External Ids for CFB Gene
- HGNC: 1037
- Entrez Gene: 629
- Ensembl: ENSG00000243649
- OMIM: 138470
- UniProtKB: 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 Complement and coagulation cascades and Complement Pathway. 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 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
- Monarch Initiative
- Search for CFB at DataMed
- Search for CFB at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFB Gene
Genomics for CFB Gene
GeneHancer (GH) Regulatory Elements for CFB Gene
Promoters and enhancers for CFB Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH06J031944 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE | 650.7 | +1.9 | 1888 | 6.8 | HDGF PKNOX1 FOXA2 MLX ARNT ARID4B DMAP1 YY1 SLC30A9 E2F8 | CFB SKIV2L ATF6B CSNK2B DDX39B LY6G5B DXO LSM2 STK19 GPANK1 | |
| GH06J031951 | Promoter | 0.7 | EPDnew | 650.4 | +5.8 | 5770 | 0.1 | POLR2A KLF16 | CFB MIR1236 ENSG00000244255 | |
| GH06J031953 | Promoter | 0.5 | EPDnew | 650.4 | +6.2 | 6226 | 0.1 | CFB MIR1236 ENSG00000244255 | ||
| GH06J031861 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 11.2 | -81.5 | -81534 | 4.5 | MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 | NEU1 LY6G5B DDX39B ATF6B LSM2 GPANK1 SKIV2L MSH5 TCF19 CSNK2B | |
| GH06J032089 | Enhancer | 0.4 | dbSUPER | 10.6 | +144.2 | 144176 | 0.1 | BCOR KDM1A | SKIV2L TNXB ATF6B FKBPL PRRT1 PPT2 EGFL8 RNF5 AGPAT1 CFB |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CFB gene promoter:
-
- STAT1
- C/EBPbeta
- MyoD
- E2F-5
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
Regulatory Element Products
Genomic Locations for CFB Gene
Genomic Locations for CFB Gene
- chr6:31,945,650-31,952,084
- (GRCh38/hg38)
- Size:
- 6,435 bases
- Orientation:
- Plus strand
- chr6:31,895,475-31,919,861
- (GRCh37/hg19)
- 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 Entrez Gene
- 6p21.33 by HGNC
- 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.
Three dimensional structures from OCA and Proteopedia for CFB Gene
Protein Expression for CFB Gene
Post-translational modifications for CFB Gene
Other Protein References for CFB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CFB (Complement Factor B)
- Novus Biologicals Antibodies for CFB
-
Abcam antibodies for CFB
- Invitrogen Antibodies for CFB
- antibodies-online: Search results for 211 available Complement Factor B Antibodies ranked by validation data
- Compare Top Complement Factor B Antibodies
-
Recommended
- 34 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 110 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 10 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 IA Antibodies (anti-human)
- 2 IP Antibodies (anti-human)
- 36 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- GeneTex CFB Antibody for CFB
-
Santa Cruz Biotechnology (SCBT) Antibodies for CFB
Protein Products
-
OriGene Purified Proteins for CFB
- 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
- Search GeneTex for Proteins for CFB
-
ProSci Proteins for CFB
-
Abcam proteins for CFB
Assay Products
- Novus Biologicals ELISA Kits for CFB
- antibodies-online: Search results for 82 available Complement Factor B Elisa Kits ranked by validation data
- Compare Top Complement Factor B Elisa Kits
-
Recommended
- 6 Chicken ELISA Kits
- 3 Cow (Bovine) ELISA Kits
- 2 Dog (Canine) ELISA Kits
- 3 Goat ELISA Kits
- 4 Guinea Pig ELISA Kits
- 1 Horse (Equine) ELISA Kit
- 20 Human ELISA Kits
- 5 Monkey ELISA Kits
- 16 Mouse (Murine) ELISA Kits
- 6 Pig (Porcine) ELISA Kits
- 4 Rabbit ELISA Kits
- 11 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
No data available for DME Specific Peptides for CFB Gene
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CFB Gene
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:
- 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.
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 | TAS,IEA | -- |
| 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 Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CFB
-
CRISPR Products
-
OriGene CRISPR knockouts for CFB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CFB
- Applied Biological Materials CRISPR for CFB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CFB
- GenScript: Design CRISPR guide RNA sequences for CFB
miRNA for CFB Gene
- miRTarBase miRNAs that target CFB
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- Sino Biological Human cDNA Clone for CFB
- VectorBuilder custom plasmid, inducible vectors for CFB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CFB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CFB
- genomics-online: cdna clones - Search results for 131 available Complement Factor B gene related products
- Overview of 131 available Complement Factor B gene related products
- orf clones - Search results for 131 available Complement Factor B gene related products
- Overview of 131 available Complement Factor B gene related products
- Applied Biological Materials Clones for CFB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| peroxisome | 2 |
| nucleus | 1 |
- Cell Junctions (2)
- Endoplasmic reticulum (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | 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 | ||
| 2 | Immune response Lectin induced complement pathway | ||
| 3 | Creation of C4 and C2 activators | ||
| 4 | Complement and coagulation cascades | ||
| 5 | Innate Immune System |
.61
|
|
Pathways by source for CFB Gene
1 Sino Biological pathway for CFB Gene
2 BioSystems pathways for CFB Gene
7 Reactome pathways for CFB Gene
2 KEGG pathways for CFB Gene
1 GeneGo (Thomson Reuters) pathway for CFB Gene
2 Qiagen pathways for CFB Gene
Interacting Proteins for CFB Gene
Selected Interacting proteins:
ENSP00000416561
P00751-CFAB_HUMAN
for CFB Gene via
STRING
UniProtKB
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 | TAS | -- |
| GO:0006957 | complement activation, alternative pathway | TAS | -- |
| GO:0030449 | regulation of complement activation | TAS | -- |
No data available for SIGNOR curated interactions for CFB Gene
Drugs & Compounds for CFB Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for CFB Gene
mRNA/cDNA for CFB Gene
- (1) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (538) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000475617 586 bps (uc063njp.1)
- ENST00000425368 2862 bps (uc003nyj.5)
- ENST00000472581 1059 bps (uc063njq.1)
- ENST00000460718 768 bps (uc063njr.1)
- ENST00000452035 1866 bps (uc063njs.1)
CRISPR Products
-
OriGene CRISPR knockouts for CFB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CFB
- Applied Biological Materials CRISPR for CFB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CFB
- GenScript: Design CRISPR guide RNA sequences for CFB
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- Sino Biological Human cDNA Clone for CFB
- VectorBuilder custom plasmid, inducible vectors for CFB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CFB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CFB
- genomics-online: cdna clones - Search results for 131 available Complement Factor B gene related products
- Overview of 131 available Complement Factor B gene related products
- orf clones - Search results for 131 available Complement Factor B gene related products
- Overview of 131 available Complement Factor B gene related products
- Applied Biological Materials Clones for CFB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of CFB Gene:
CFBSOURCE GeneReport for Unigene cluster for CFB Gene:
Hs.69771Evidence on tissue expression from TISSUES for CFB Gene
- Liver(4.8)
- Blood(4.5)
- Intestine(4.5)
- Bone marrow(4.3)
- Kidney(2.3)
- Eye(2.2)
- Stomach(2.2)
- Gall bladder(2.1)
- Lung(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
-
OriGene qPCR primer pairs and template standards for CFB
-
OriGene qPCR primer pairs for CFB
Gene Expression Assay Products
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 34 33 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | CFB 33 |
|
||
| -- 34 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Cfb 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Cfb 16 34 33 |
|
||
| Gm20547 34 |
|
ManyToMany | |||
| cow (Bos Taurus) |
Mammalia | CFB 34 33 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100491419 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:158446 34 33 |
|
ManyToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany |
- Species where no ortholog for CFB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
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. The variants His-9 and Gln-32 are associated with a reduced risk of age-related macular degeneration (ARMD) [MIM:603075]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world.
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1048709 | benign, Atypical hemolytic uremic syndrome, Complement component 2 deficiency, Macular degeneration | 31,947,158(+) | A/G | coding_sequence_variant, synonymous_variant | |
| rs1057516209 | uncertain-significance, Atypical hemolytic-uremic syndrome 4 | 31,949,291(+) | G/A | coding_sequence_variant, missense_variant | |
| rs113197809 | likely-benign, Macular degeneration, Complement component 2 deficiency, Atypical hemolytic uremic syndrome | 31,947,463(+) | C/G/T | coding_sequence_variant, synonymous_variant | |
| rs116928087 | likely-benign, Atypical hemolytic uremic syndrome, Macular degeneration | 31,951,565(+) | C/A/T | coding_sequence_variant, synonymous_variant | |
| rs117314762 | likely-benign, Atypical hemolytic uremic syndrome, Macular degeneration, Complement component 2 deficiency | 31,946,529(+) | G/A | coding_sequence_variant, missense_variant |
| 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 Assay Products
Disorders for CFB Gene
(20) MalaCards diseases for CFB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hemolytic uremic syndrome, atypical 4 |
|
|
| complement factor b deficiency |
|
|
| macular degeneration, age-related, 14 |
|
|
| hemolytic-uremic syndrome |
|
|
| multifocal choroiditis |
|
|
Search CFB in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CFAB_HUMAN- 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 variations 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 mutations affecting the gene represented in this entry.
Additional Disease Information for CFB
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 44 58
- 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 22 44 58
- 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 22 44 58
- Multilocus analysis of age-related macular degeneration. (PMID: 19259132) Bergeron-Sawitzke J … Dean M (European journal of human genetics : EJHG 2009) 3 22 44 58
- 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 22 44 58
Products for CFB Gene
- R&D Systems Antibodies for CFB (Complement Factor B)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for CFB
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CFB
- Search Origene for MassSpec and Protein Over-expression Lysates for CFB
- Origene Custom Protein Services for CFB
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CFB
- Browse OriGene Inhibitory RNA Products For CFB
- OriGene qPCR primer pairs and template standards for CFB
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- OriGene CRISPR knockouts for CFB
- OriGene ORF clones in human for CFB
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CFB
- GenScript: Next-day shipping of latest version cDNA ORF clones for CFB in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CFB
- GenScript Custom Assay Services for CFB
- GenScript Custom overexpressing Cell Line Services for CFB
- GenScript: Design CRISPR guide RNA sequences for CFB
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
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- Sino Biological Human cDNA Clone for CFB
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- Browse Recombinant Proteins
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CFB
- Novus Biologicals lysates and proteins for CFB
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- Novus Biologicals
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- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for CFB
- Abcam proteins for CFB
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for CFB
- VectorBuilder custom plasmid, inducible vectors for CFB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CFB
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 211 available Complement Factor B Antibodies ranked by validation data
- Compare Top Complement Factor B Antibodies
- Recommended
- 34 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 110 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 10 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 IA Antibodies (anti-human)
- 2 IP Antibodies (anti-human)
- 36 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- antibodies-online: Search results for 82 available Complement Factor B Elisa Kits ranked by validation data
- Compare Top Complement Factor B Elisa Kits
- Recommended
- 6 Chicken ELISA Kits
- 3 Cow (Bovine) ELISA Kits
- 2 Dog (Canine) ELISA Kits
- 3 Goat ELISA Kits
- 4 Guinea Pig ELISA Kits
- 1 Horse (Equine) ELISA Kit
- 20 Human ELISA Kits
- 5 Monkey ELISA Kits
- 16 Mouse (Murine) ELISA Kits
- 6 Pig (Porcine) ELISA Kits
- 4 Rabbit ELISA Kits
- 11 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- antibodies-online: Search results for 39 available Complement Factor B Proteins ranked by validation data
- Compare Top Complement Factor B Proteins
- GeneTex CFB Antibody for CFB
- Search GeneTex for Proteins for CFB
- Santa Cruz Biotechnology (SCBT) Antibodies for CFB
- Search Santa Cruz Biotechnology (SCBT) for CFB siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CFB
- Search for CFB Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for CFB
- Horizon Cell Lines for CFB
- genomics-online: cdna clones - Search results for 131 available Complement Factor B gene related products
- Overview of 131 available Complement Factor B gene related products
- orf clones - Search results for 131 available Complement Factor B gene related products
- Overview of 131 available Complement Factor B gene related products
- genomics-online: gRNA clones - Search results for 131 available Complement Factor B gene related products
- Overview of 131 available Complement Factor B gene related products
- genomics-online: primer clones - Search results for 131 available Complement Factor B gene related products
- Overview of 131 available Complement Factor B gene related products
- genomics-online: shRNA clones - Search results for 131 available Complement Factor B gene related products
- Overview of 131 available Complement Factor B gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CFB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CFB
- GeneCopoeia miRNA 3'UTR Target clone products for CFB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFB
Sources for CFB Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt