CFH (complement factor H)

2003-05-01  

Identity

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

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

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

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
157611222005Complement factor H polymorphism in age-related macular degeneration.1348
157611222005Complement factor H polymorphism in age-related macular degeneration.1348
157611202005Complement factor H variant increases the risk of age-related macular degeneration.835
157611212005Complement factor H polymorphism and age-related macular degeneration.825
157611212005Complement factor H polymorphism and age-related macular degeneration.825
158701992005A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.694
161746432005Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.263
203858192010Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.246
169367322006Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.235
169367322006Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.235

Citation

Dessen P

CFH (complement factor H)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40814/cfh