About   Help   FAQ
Cfb Gene Detail
Summary
  • Symbol
    Cfb
  • Name
    complement factor B
  • Synonyms
    alternative-complement pathway C3/C5 convertase, B, Bf, Factor B, FB, H2-Bf
  • Feature Type
    protein coding gene
  • IDs
    MGI:105975
    NCBI Gene: 14962
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:35075350-35081492 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 18.41 cM
  • Mapping Data
    16 experiments
Strain
Comparison
more
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105975
 protein coding gene Chr17:35075350-35081494 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023593
 protein coding gene Chr17:34967689-34974331 (-)
A/J MGP_AJ_G0023555
 protein coding gene Chr17:33826582-33832721 (-)
AKR/J MGP_AKRJ_G0023521
 protein coding gene Chr17:34285448-34291594 (-)
BALB/cJ MGP_BALBcJ_G0023560
 protein coding gene Chr17:33956894-33963033 (-)
C3H/HeJ MGP_C3HHeJ_G0023320
 protein coding gene Chr17:34685686-34691832 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024000
 protein coding gene Chr17:36305501-36311641 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021479
 protein coding gene Chr17:31591263-31597411 (-)
CAST/EiJ MGP_CASTEiJ_G0022818
 protein coding gene Chr17:34680559-34686706 (-)
CBA/J MGP_CBAJ_G0023298
 protein coding gene Chr17:37817073-37823213 (-)
DBA/2J MGP_DBA2J_G0023426
 protein coding gene Chr17:33140938-33147077 (-)
FVB/NJ MGP_FVBNJ_G0023393
 protein coding gene Chr17:32971180-32977325 (-)
LP/J MGP_LPJ_G0023503
 protein coding gene Chr17:35279047-35285187 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023416
 protein coding gene Chr17:36745829-36751955 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024042
 protein coding gene Chr17:34515335-34521458 (-)
PWK/PhJ MGP_PWKPhJ_G0022567
 protein coding gene Chr17:31970592-31976714 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022384
 protein coding gene Chr17:32516525-32522653 (-)
WSB/EiJ MGP_WSBEiJ_G0022880
 protein coding gene Chr17:34624074-34630215 (-)



Homology
more
  • Human Ortholog
    CFB, complement factor B
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFB, complement factor B
  • Synonyms
    AHUS4, ARMD14, BF, BFD, CFAB, CFBD, FB, FBI12, GBG, H2-Bf, PBF2
  • Links
    NCBI Gene ID: 629
    neXtProt AC: NX_P00751
    UniProt: P00751

  • Chr Location
    6p21.33; chr6:31945650-31952086 (+)  GRCh38
Human Diseases
more
  • Diseases
    12 with human CFB associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 4 alleles in 6 genetic backgrounds
    3 phenotypes from multigenic genotypes
    111 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations lack the alternative complement pathway, and have reduced overall complement activity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    727
  • Tissues
    2
  • cDNA Data
    17
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14962 NCBI Gene Model | MGI Sequence Detail 6143 C57BL/6J ±  kb
    transcript NM_001402875 RefSeq | MGI Sequence Detail 2465 ZRU/MplStud  
    polypeptide P04186 UniProt | EBI | MGI Sequence Detail 761 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 34
      Genomic 14
      cDNA 17
      Primer pair 1
      Other 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-1540, MGD-MRK-33655, MGI:2146806, MGI:2146810
    References
    more
    • Summaries
      All 181
      Developmental Gene Expression 4
      Gene Ontology 7
      Phenotypes 111
    • Earliest
      J:5602 Womack JE, et al., Mitochondrial malate dehydrogenase (Mor-1) in the mouse: linkage to chromosome 5 markers. Biochem Genet. 1975 Oct;13(9-10):519-25
    • Latest
      J:343011 Crowley MA, et al., 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. Hum Mol Genet. 2023 Jan 6;32(2):204-217
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory