Identity
HGNC
LOCATION
1q31.3
LOCUSID
ALIAS
CFHL4,FHR-4,FHR4
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: 10877
MIM: 605337
HGNC: 16979
Ensembl: ENSG00000134365
Variants:
dbSNP: 10877
ClinVar: 10877
TCGA: ENSG00000134365
COSMIC: CFHR4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000134365 | ENST00000251424 | Q92496 |
| ENSG00000134365 | ENST00000367416 | Q92496 |
| ENSG00000134365 | ENST00000367418 | A0A0C4DH21 |
| ENSG00000134365 | ENST00000608469 | Q92496 |
Expression (GTEx)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA162316739 | Maculopapular Exanthema | Disease | ClinicalAnnotation | associated | PD | ||
| PA450947 | phenytoin | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38200010 | 2024 | Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression. | 1 |
| 38200010 | 2024 | Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression. | 1 |
| 35812416 | 2022 | Identification of CFHR4 as a Potential Prognosis Biomarker Associated With lmmune Infiltrates in Hepatocellular Carcinoma. | 5 |
| 36793547 | 2022 | CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome. | 5 |
| 35812416 | 2022 | Identification of CFHR4 as a Potential Prognosis Biomarker Associated With lmmune Infiltrates in Hepatocellular Carcinoma. | 5 |
| 36793547 | 2022 | CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome. | 5 |
| 32034129 | 2020 | Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration. | 50 |
| 32034129 | 2020 | Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration. | 50 |
| 29288229 | 2018 | Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients. | 13 |
| 29317355 | 2018 | Identification of candidate serum biomarkers of childhood-onset growth hormone deficiency using SWATH-MS and feature selection. | 12 |
| 29398083 | 2018 | Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration. | 41 |
| 29288229 | 2018 | Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients. | 13 |
| 29317355 | 2018 | Identification of candidate serum biomarkers of childhood-onset growth hormone deficiency using SWATH-MS and feature selection. | 12 |
| 29398083 | 2018 | Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration. | 41 |
| 27196323 | 2016 | Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk. | 10 |
Citation
Dessen P
CFHR4 (complement factor H related 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61773/cfhr4-(complement-factor-h-related-4)
