CFHR3 (complement factor H related 3)

2014-11-01  

Identity

HGNC
LOCATION
1q31.3
LOCUSID
ALIAS
CFHL3,DOWN16,FHR-3,FHR3,HLF4

Other Information

Locus ID:

NCBI: 10878
MIM: 605336
HGNC: 16980
Ensembl: ENSG00000116785

Variants:

dbSNP: 10878
ClinVar: 10878
TCGA: ENSG00000116785
COSMIC: CFHR3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116785ENST00000367425Q02985
ENSG00000116785ENST00000367427Q6NSD3
ENSG00000116785ENST00000391985Q02985
ENSG00000116785ENST00000471440Q6NSD3
ENSG00000116785ENST00000617219A0A087WYK9

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Regulation of Complement cascadeREACTOMER-HSA-977606

References

Pubmed IDYearTitleCitations
169984892006A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.174
169984892006A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.174
173672112007Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.101
198616852010Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.99
206940132010Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.98
180067002008Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency.93
208438252010An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).89
174386732006Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.87
216377842011Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.62
226268202012A hybrid CFHR3-1 gene causes familial C3 glomerulopathy.52

Citation

Dessen P

CFHR3 (complement factor H related 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61772/cfhr3