Property Summary

NCBI Gene PubMed Count 670
Grant Count 253
R01 Count 148
Funding $64,702,403.66
PubMed Score 1330.27
PubTator Score 1692.38

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (56)

Disease Z-score Confidence
Age related macular degeneration 84 7.585 3.8
Kuhnt-Junius degeneration 14 5.631 2.8
Anemia 252 5.322 2.7
Blindness 84 4.89 2.4
Retinal drusen 5 4.404 2.2
Kidney disease 396 4.256 2.1
Thrombocytopenia 105 3.683 1.8
Cancer 2,346 3.631 1.8
Thrombotic thrombocytopenic purpura 14 3.553 1.8
Atopic dermatitis 944
Atypical Hemolytic Uremic Syndrome 9
BASAL LAMINAR DRUSEN (disorder) 1
Becker muscular dystrophy 187
Carcinoma 2,147 1.0
Complement Factor H Deficiency 1
Duchenne muscular dystrophy 602
Exudative age-related macular degenerati... 9 
Glomerulonephritis, Membranoproliferativ... 5 
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUS... 5 
IGA Glomerulonephritis 454
Immunologic Deficiency Syndromes 16
Kidney Diseases 86
MACULAR DEGENERATION, AGE-RELATED, 4 (di... 2 
Macular degeneration 41 3.0
Membranoproliferative Glomerulonephritis... 2 
Membranoproliferative Glomerulonephritis... 2 
Membranoproliferative Glomerulonephritis... 2 
Meningococcal Infections 4
Pick disease 1,893
adrenocortical carcinoma 1,427
autosomal dominant Emery-Dreifuss muscul... 499 
breast carcinoma 1,614
colon cancer 1,475
cystic fibrosis 1,665
ductal carcinoma in situ 1,745
fascioscapulohumeral muscular dystrophy 100
fibroadenoma 557
hemolytic-uremic syndrome 28 4.0
interstitial lung disease 291
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
invasive ductal carcinoma 2,950
juvenile dermatomyositis 1,189
limb girdle muscular dystrophy 2A 156
lung adenocarcinoma 2,713
lung cancer 4,466
lung carcinoma 2,844
malignant mesothelioma 3,162
non-small cell lung cancer 2,798
oligodendroglioma 2,849
ovarian cancer 8,484
pancreatic ductal adenocarcinoma liver m... 1,795 
pilocytic astrocytoma 3,086
pituitary cancer 1,972
psoriasis 6,685
sonic hedgehog group medulloblastoma 1,482

Expression

Synonym

Accession P08603 A5PL14 P78435 Q14570 Q2TAZ5 Q38G77 Q5TFM3 Q8N708 Q9NU86
Symbols FH
HF
HF1
HF2
HUS
FHL1
AHUS1
AMBP1
ARMD4
ARMS1
CFHL3

Gene

CFH

PDB

2WII   2XQW   3OXU   3RJ3   4ONT   4ZH1   1FHC   1HAQ   1HCC   1HFH   1HFI   1KOV   2BZM   2G7I   2IC4   2JGW   2JGX   2KMS   2QFG   2QFH   2RLP   2RLQ   2UWN   2V8E   2W80   2W81   3GAU   3GAV   3GAW   3KXV   3KZJ   3R62   3SW0   4AYD   4AYE   4AYI   4AYM   4B2R   4B2S   4J38   4K12  

Gene RIF (701)

PMID Text
27196323 Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. Expression of the short and long CFH transcripts differed markedly between the retina and liver. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins.
26938503 data indicate that FH has multiple regulatory roles on neutrophil functions
26903516 The inhibitory effect of FH on C3bBb formation is likely the sum of inhibition of C3bB conversion to C3bBb and of C3bBb decay acceleration.
26852301 CFH -543G>A, A473A, -257C>T, and IVS15 polymorphisms might be moderately associated with Macular Degeneration risk (Meta-Analysis)
26826462 we identified 27 (12 novel and 15 previously described) potentially disease-causing mutations in CFH in atypical hemolytic uremic syndrome
26767664 Patients with advanced atrophic AMD carried these rare variants more frequently than patients with neovascular AMD (11 of 93 [11.8%] vs 40 of 835 [4.8%]; P = .04).
26746578 The at-risk polymorphism of the CFH Y402H may contribute to AMD disease process through increased complement and NF-kappaB activation, and the upregulation of IL-18, a product of inflammasome activation.
26728463 study shows that FH and FH19-20 binding to glomerular endothelial cells is differentially mediated by heparan sulfate but not other glycosaminoglycans
26727378 This meta-analysis suggested that CFH rs1061170 and rs1410996 polymorphisms were associated with age-related macular degeneration in an Asian population risk.
26723877 Complement proteins C7 and CFH control the stemness of liver cancer cells via LSF-1 pathway.
More...

AA Sequence

MRLLAKIICLMLWAICVAEDCNELPPRRNTEILTGSWSDQTYPEGTQAIYKCRPGYRSLGNVIMVCRKGE      1 - 70
WVALNPLRKCQKRPCGHPGDTPFGTFTLTGGNVFEYGVKAVYTCNEGYQLLGEINYRECDTDGWTNDIPI     71 - 140
CEVVKCLPVTAPENGKIVSSAMEPDREYHFGQAVRFVCNSGYKIEGDEEMHCSDDGFWSKEKPKCVEISC    141 - 210
KSPDVINGSPISQKIIYKENERFQYKCNMGYEYSERGDAVCTESGWRPLPSCEEKSCDNPYIPNGDYSPL    211 - 280
RIKHRTGDEITYQCRNGFYPATRGNTAKCTSTGWIPAPRCTLKPCDYPDIKHGGLYHENMRRPYFPVAVG    281 - 350
KYYSYYCDEHFETPSGSYWDHIHCTQDGWSPAVPCLRKCYFPYLENGYNQNYGRKFVQGKSIDVACHPGY    351 - 420
ALPKAQTTVTCMENGWSPTPRCIRVKTCSKSSIDIENGFISESQYTYALKEKAKYQCKLGYVTADGETSG    421 - 490
SITCGKDGWSAQPTCIKSCDIPVFMNARTKNDFTWFKLNDTLDYECHDGYESNTGSTTGSIVCGYNGWSD    491 - 560
LPICYERECELPKIDVHLVPDRKKDQYKVGEVLKFSCKPGFTIVGPNSVQCYHFGLSPDLPICKEQVQSC    561 - 630
GPPPELLNGNVKEKTKEEYGHSEVVEYYCNPRFLMKGPNKIQCVDGEWTTLPVCIVEESTCGDIPELEHG    631 - 700
WAQLSSPPYYYGDSVEFNCSESFTMIGHRSITCIHGVWTQLPQCVAIDKLKKCKSSNLIILEEHLKNKKE    701 - 770
FDHNSNIRYRCRGKEGWIHTVCINGRWDPEVNCSMAQIQLCPPPPQIPNSHNMTTTLNYRDGEKVSVLCQ    771 - 840
ENYLIQEGEEITCKDGRWQSIPLCVEKIPCSQPPQIEHGTINSSRSSQESYAHGTKLSYTCEGGFRISEE    841 - 910
NETTCYMGKWSSPPQCEGLPCKSPPEISHGVVAHMSDSYQYGEEVTYKCFEGFGIDGPAIAKCLGEKWSH    911 - 980
PPSCIKTDCLSLPSFENAIPMGEKKDVYKAGEQVTYTCATYYKMDGASNVTCINSRWTGRPTCRDTSCVN    981 - 1050
PPTVQNAYIVSRQMSKYPSGERVRYQCRSPYEMFGDEEVMCLNGNWTEPPQCKDSTGKCGPPPPIDNGDI   1051 - 1120
TSFPLSVYAPASSVEYQCQNLYQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENYNIALRWTAKQKLY   1121 - 1190
SRTGESVEFVCKRGYRLSSRSHTLRTTCWDGKLEYPTCAKR                                1191 - 1231
//

Text Mined References (676)

PMID Year Title
27196323 2016 Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
26938503 2016 Complement factor H modulates the activation of human neutrophil granulocytes and the generation of neutrophil extracellular traps.
26903516 2016 Insights into the Effects of Complement Factor H on the Assembly and Decay of the Alternative Pathway C3 Proconvertase and C3 Convertase.
26852301 Four complement factor H gene polymorphisms in association with AMD: A meta-analysis.
26826462 2016 Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.
26767664 2016 Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.
26746578 2016 CFH Y402H polymorphism and the complement activation product C5a: effects on NF-?B activation and inflammasome gene regulation.
26728463 2016 Mutations in Complement Factor H Impair Alternative Pathway Regulation on Mouse Glomerular Endothelial Cells in Vitro.
26727378 2016 Association of Two Polymorphisms, rs1061170 and rs1410996, in Complement Factor H with Age-Related Macular Degeneration in an Asian Population: A Meta-Analysis.
26723877 2016 Complement proteins C7 and CFH control the stemness of liver cancer cells via LSF-1.
More...