CFI (complement factor I)

2007-07-01  

Identity

HGNC
LOCATION
4q25
LOCUSID
ALIAS
AHUS3,ARMD13,C3BINA,C3b-INA,FI,IF,KAF
FUSION GENES

Other Information

Locus ID:

NCBI: 3426
MIM: 217030
HGNC: 5394
Ensembl: ENSG00000205403

Variants:

dbSNP: 3426
ClinVar: 3426
TCGA: ENSG00000205403
COSMIC: CFI

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205403ENST00000394634P05156
ENSG00000205403ENST00000394635E7ETH0
ENSG00000205403ENST00000510800D6R9Z8
ENSG00000205403ENST00000512148G3XAM2
ENSG00000205403ENST00000618244A0A087X0I2

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Regulation of Complement cascadeREACTOMER-HSA-977606

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203858192010Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.246
166219652006Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.169
186855592009Variation near complement factor I is associated with risk of advanced AMD.154
240369522013Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.124
196612362009Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.107
198616852010Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.99
175999742007Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome.93
205131332010Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.88
205131332010Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.88
236857482013A functional variant in the CFI gene confers a high risk of age-related macular degeneration.65

Citation

Dessen P

CFI (complement factor I)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47652/cfi