CFI (complement factor I)

2007-07-01  

Identity

HGNC
CFI
LOCATION
4q25
LOCUSID
3426
ALIAS
AHUS3,ARMD13,C3BINA,C3b-INA,FI,IF,KAF
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381343782024CNS Inflammation as the First Sign of Complement Factor I Deficiency: A Severe Myelitis Treated With Intense Immunotherapy and Eculizumab.1
383953902024Elevated expression of complement factor I in lung cancer cells associates with shorter survival-Potentially via non-canonical mechanism.0
384231592024Hot Spot of Complement Factor I Rare Variant p.Ile357Met in Patients With Hemolytic Uremic Syndrome.0
381343782024CNS Inflammation as the First Sign of Complement Factor I Deficiency: A Severe Myelitis Treated With Intense Immunotherapy and Eculizumab.1
383953902024Elevated expression of complement factor I in lung cancer cells associates with shorter survival-Potentially via non-canonical mechanism.0
384231592024Hot Spot of Complement Factor I Rare Variant p.Ile357Met in Patients With Hemolytic Uremic Syndrome.0
373638242023Mutations in atypical hemolytic uremic syndrome provide evidence for the role of calcium in complement factor I.0
374786872023Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.4
373638242023Mutations in atypical hemolytic uremic syndrome provide evidence for the role of calcium in complement factor I.0
374786872023Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.4
355319922022Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration.5
360671622022An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.1
366439202022A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration.3
355319922022Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration.5
360671622022An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.1

Citation

Dessen P

CFI (complement factor I)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

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