CFH (complement factor H)

2003-05-01  

Identity

HGNC
CFH
LOCATION
1q31.3
LOCUSID
3075
ALIAS
AHUS1,AMBP1,ARMD4,ARMS1,CFHL3,FH,FHL1,HF,HF1,HF2,HUS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3075
MIM: 134370
HGNC: 4883
Ensembl: ENSG00000000971

Variants:

dbSNP: 3075
ClinVar: 3075
TCGA: ENSG00000000971
COSMIC: CFH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000000971ENST00000359637Q5TFM2
ENSG00000000971ENST00000367429P08603
ENSG00000000971ENST00000367429A0A024R962
ENSG00000000971ENST00000630130A0A0D9SG88

Expression (GTEx)

0
50
100
150
200
250
300
350
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA130232992bevacizumabChemicalClinicalAnnotationassociatedPD22594510, 22840423, 23204795, 23337555, 23559864, 23584701, 23842101, 24070809, 26411831, 26439641
PA134850558Macular DegenerationDiseaseClinicalAnnotation, Literature, MultilinkAnnotationassociatedPD18050121, 18292785, 22594510, 22840423, 23204795, 23337555, 23559864, 23584701, 23842101, 24070809, 24847005, 26411831, 26439641, 26501415, 26780119
PA164746012ranibizumabChemicalClinicalAnnotationassociatedPD22594510, 22840423, 23204795, 23337555, 23559864, 23584701, 23842101, 24070809, 26411831, 26439641
PA164776637eculizumabChemicalMultilinkAnnotationassociated26724167
PA165984462photodynamic therapyChemicalClinicalAnnotationassociatedPD18050121, 18292785, 26780119

References

Pubmed IDYearTitleCitations
378039322024Association of KDR (rs2071559, rs1870377), CFH (rs1061170, rs1410996) genes variants and serum levels with pituitary adenoma.1
383885182024Gliosis-dependent expression of complement factor H truncated variants attenuates retinal neurodegeneration following ischemic injury.0
384645302024Protective role of complement factor H against the development of preeclampsia.1
389332642024Complement-Coagulation Cross-talk: Factor H-mediated regulation of the Complement Classical Pathway activation by fibrin clots.0
378039322024Association of KDR (rs2071559, rs1870377), CFH (rs1061170, rs1410996) genes variants and serum levels with pituitary adenoma.1
383885182024Gliosis-dependent expression of complement factor H truncated variants attenuates retinal neurodegeneration following ischemic injury.0
384645302024Protective role of complement factor H against the development of preeclampsia.1
389332642024Complement-Coagulation Cross-talk: Factor H-mediated regulation of the Complement Classical Pathway activation by fibrin clots.0
366262522023Rare germline complement factor H variants in patients with paroxysmal nocturnal hemoglobinuria.2
367495972023Genetic Variability of Complement Factor H Has Ethnicity-Specific Associations With Choroidal Thickness.0
367551272023CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome.1
371555642023Reduced binding of apoE4 to complement factor H promotes amyloid-β oligomerization and neuroinflammation.3
371567552023Identification of complement factor H variants that predispose to pre-eclampsia: A genetic and functional study.4
376511232023Mesangial C3 Deposition, Complement-Associated Variant, and Disease Progression in IgA Nephropathy.2
379969182023Complement factor H attenuates TNF-α-induced inflammation by upregulating EIF3C in rheumatoid arthritis.0

Citation

Dessen P

CFH (complement factor H)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40814/gene-fusions-explorer/haematological-explorer/cancer-prone-explorer/