Identity
HGNC
LOCATION
1q31.3
LOCUSID
ALIAS
AHUS1,AMBP1,ARMD4,ARMS1,CFHL3,FH,FHL1,HF,HF1,HF2,HUS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3075
MIM: 134370
HGNC: 4883
Ensembl: ENSG00000000971
Variants:
dbSNP: 3075
ClinVar: 3075
TCGA: ENSG00000000971
COSMIC: CFH
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000000971 | ENST00000359637 | Q5TFM2 |
| ENSG00000000971 | ENST00000367429 | P08603 |
| ENSG00000000971 | ENST00000367429 | A0A024R962 |
| ENSG00000000971 | ENST00000630130 | A0A0D9SG88 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA130232992 | bevacizumab | Chemical | ClinicalAnnotation | associated | PD | 22594510, 22840423, 23204795, 23337555, 23559864, 23584701, 23842101, 24070809, 26411831, 26439641 | |
| PA134850558 | Macular Degeneration | Disease | ClinicalAnnotation, Literature, MultilinkAnnotation | associated | PD | 18050121, 18292785, 22594510, 22840423, 23204795, 23337555, 23559864, 23584701, 23842101, 24070809, 24847005, 26411831, 26439641, 26501415, 26780119 | |
| PA164746012 | ranibizumab | Chemical | ClinicalAnnotation | associated | PD | 22594510, 22840423, 23204795, 23337555, 23559864, 23584701, 23842101, 24070809, 26411831, 26439641 | |
| PA164776637 | eculizumab | Chemical | MultilinkAnnotation | associated | 26724167 | ||
| PA165984462 | photodynamic therapy | Chemical | ClinicalAnnotation | associated | PD | 18050121, 18292785, 26780119 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37803932 | 2024 | Association of KDR (rs2071559, rs1870377), CFH (rs1061170, rs1410996) genes variants and serum levels with pituitary adenoma. | 1 |
| 38388518 | 2024 | Gliosis-dependent expression of complement factor H truncated variants attenuates retinal neurodegeneration following ischemic injury. | 0 |
| 38464530 | 2024 | Protective role of complement factor H against the development of preeclampsia. | 1 |
| 38933264 | 2024 | Complement-Coagulation Cross-talk: Factor H-mediated regulation of the Complement Classical Pathway activation by fibrin clots. | 0 |
| 37803932 | 2024 | Association of KDR (rs2071559, rs1870377), CFH (rs1061170, rs1410996) genes variants and serum levels with pituitary adenoma. | 1 |
| 38388518 | 2024 | Gliosis-dependent expression of complement factor H truncated variants attenuates retinal neurodegeneration following ischemic injury. | 0 |
| 38464530 | 2024 | Protective role of complement factor H against the development of preeclampsia. | 1 |
| 38933264 | 2024 | Complement-Coagulation Cross-talk: Factor H-mediated regulation of the Complement Classical Pathway activation by fibrin clots. | 0 |
| 36626252 | 2023 | Rare germline complement factor H variants in patients with paroxysmal nocturnal hemoglobinuria. | 2 |
| 36749597 | 2023 | Genetic Variability of Complement Factor H Has Ethnicity-Specific Associations With Choroidal Thickness. | 0 |
| 36755127 | 2023 | CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome. | 1 |
| 37155564 | 2023 | Reduced binding of apoE4 to complement factor H promotes amyloid-β oligomerization and neuroinflammation. | 3 |
| 37156755 | 2023 | Identification of complement factor H variants that predispose to pre-eclampsia: A genetic and functional study. | 4 |
| 37651123 | 2023 | Mesangial C3 Deposition, Complement-Associated Variant, and Disease Progression in IgA Nephropathy. | 2 |
| 37996918 | 2023 | Complement 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/cfh
