• Gene id: 629

Gene Summary

• Gene Symbol: CFB   Gene   UCSC   Ensembl
• Aliases: AHUS4, ARMD14, BF, BFD, CFAB, CFBD, FB, FBI12, GBG, H2-Bf, PBF2
• Gene name: complement factor B
• Alternate names: complement factor B, B-factor, properdin, C3 proaccelerator, C3 proactivator, C3/C5 convertase, glycine-rich beta-glycoprotein, properdin factor B,
• Gene location: 6p21.33 (31946094: 31952083)     Exons: 7     NC_000006.12
• Gene summary(Entrez): 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 yieldi
• OMIM: 138470

Protein Summary

• Protein general information: P00751  
  • Name: Complement factor B (EC 3.4.21.47) (C3/C5 convertase) (Glycine rich beta glycoprotein) (GBG) (PBF2) (Properdin factor B) [Cleaved into: Complement factor B Ba fragment; Complement factor B Bb fragment]
  • Length: 764  
  • Mass: 85533
• Sequence:

  MGSNLSPQLCLMPFILGLLSGGVTTTPWSLARPQGSCSLEGVEIKGGSFRLLQEGQALEYVCPSGFYPYPVQTRT
  CRSTGSWSTLKTQDQKTVRKAECRAIHCPRPHDFENGEYWPRSPYYNVSDEISFHCYDGYTLRGSANRTCQVNGR
  WSGQTAICDNGAGYCSNPGIPIGTRKVGSQYRLEDSVTYHCSRGLTLRGSQRRTCQEGGSWSGTEPSCQDSFMYD
  TPQEVAEAFLSSLTETIEGVDAEDGHGPGEQQKRKIVLDPSGSMNIYLVLDGSDSIGASNFTGAKKCLVNLIEKV
  ASYGVKPRYGLVTYATYPKIWVKVSEADSSNADWVTKQLNEINYEDHKLKSGTNTKKALQAVYSMMSWPDDVPPE
  GWNRTRHVIILMTDGLHNMGGDPITVIDEIRDLLYIGKDRKNPREDYLDVYVFGVGPLVNQVNINALASKKDNEQ
  HVFKVKDMENLEDVFYQMIDESQSLSLCGMVWEHRKGTDYHKQPWQAKISVIRPSKGHESCMGAVVSEYFVLTAA
  HCFTVDDKEHSIKVSVGGEKRDLEIEVVLFHPNYNINGKKEAGIPEFYDYDVALIKLKNKLKYGQTIRPICLPCT
  EGTTRALRLPPTTTCQQQKEELLPAQDIKALFVSEEEKKLTRKEVYIKNGDKKGSCERDAQYAPGYDKVKDISEV
  VTPRFLCTGGVSPYADPNTCRGDSGGPLIVHKRSRFIQVGVISWGVVDVCKNQKRQKQVPAHARDFHINLFQVLP
  WLKEKLQDEDLGFL

• Structural information:
  • Protein Domains: (35..10-)
    (/note="Sushi-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (101..16-)
    (/note="Sushi-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (163..22-)
    (/note="Sushi-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302"-)
  • Interpro: IPR011360  IPR028341  IPR009003  IPR001314  IPR035976   IPR000436  IPR001254  IPR018114  IPR033116  IPR002035  IPR036465  
  • Prosite: PS50923 PS50240 PS00134 PS00135 PS50234
  • CDD: cd00033 cd00190
  • PDB: 1DLE 1Q0P 1RRK 1RS0 1RTK 2OK5 2WIN 2XWB 2XWJ 3HRZ 3HS0 6QSW 6QSX 6RAV 6RUR 6RUV
  • PDBsum: 1DLE 1Q0P 1RRK 1RS0 1RTK 2OK5 2WIN 2XWB 2XWJ 3HRZ 3HS0 6QSW 6QSX 6RAV 6RUR 6RUV
  • DIP: 38319
  • STRING: ENSP00000416561
• Other Databases: GeneCards:  CFB  Malacards:  CFB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006956	complement activation	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006957	complement activation, alternative pathway	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0006956	complement activation	TAS	biological process
GO:0006957	complement activation, alternative pathway	TAS	biological process
GO:0030449	regulation of complement activation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0006957	complement activation, alternative pathway	NAS	biological process
GO:0001848	complement binding	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05150	Staphylococcus aureus infection
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Age-related macular degeneration	KEGG:H00821
Atypical hemolytic uremic syndrome	KEGG:H01434
Age-related macular degeneration	KEGG:H00821
Atypical hemolytic uremic syndrome	KEGG:H01434
Lupus nephritis	PMID:21893562
Atypical hemolytic-uremic syndrome	PMID:17182750
Atypical hemolytic-uremic syndrome	PMID:20513133
Sickle cell anemia	PMID:10440069
Sickle cell anemia	PMID:12793071
factor VIII deficiency	PMID:6912882
Beta thalassemia	PMID:6914868
Behcet's disease	PMID:6900632
Breast cancer	PMID:15274022
systemic scleroderma	PMID:2803327
macular degeneration	PMID:23112567
Psoriasis	PMID:6559061
Diabetic retinopathy	PMID:23864767
autosomal dominant polycystic kidney disease	PMID:24494798
type 1 diabetes mellitus	PMID:3907907
type 1 diabetes mellitus	PMID:19000152
acute lymphocytic leukemia	PMID:6958349
Hypospermatogenesis	MIK: 28361989
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R