Property Summary

NCBI Gene PubMed Count 57
Grant Count 27
R01 Count 21
Funding $1,684,366.17
PubMed Score 92.50
PubTator Score 70.19

Knowledge Summary

Patent (14,667)

Expression

  Differential Expression (11)

Disease log2 FC p
psoriasis -1.300 0.000
osteosarcoma -1.802 0.002
non-small cell lung carcinoma -1.500 0.000
intraductal papillary-mucinous neoplasm ... -1.100 0.024
lung cancer -1.100 0.003
breast carcinoma -1.900 0.001
fibroadenoma -2.000 0.020
lung adenocarcinoma -2.300 0.000
lung carcinoma -1.300 0.000
ductal carcinoma in situ -2.100 0.001
invasive ductal carcinoma -2.500 0.009

Gene RIF (40)

PMID Text
26530129 Two were novel mutations: p.E134* and p.T503fs of FZD4 lead to the loss of FZD4 activity.
26277630 Letter: FZD4+ and FZD4- melanocytes were significantly lower in hair follicles of patients with rhododenol-induced leukoderma.
26244290 Mutations of FZD4 accounted for the largest proportion, which could be directly applied to the testing strategy to start with screening for FZD4 mutations.
26158506 These structural, biophysical and cellular data, map Fz4 and putative Lrp5/6 binding sites to distinct patches on Norrin, and reveal a GAG binding site spanning Norrin and Fz4 cysteine-rich domain.
26119001 The relatively high prevalence of the p.[P33S(;)P168S] variant in ROP (retinopathy of prematurity) and intrauterine growth restriction suggests that it also may be a marker for increased risk of developing ROP and preterm birth.
25751279 analysis of allosteric ligands of Frizzled4
24744206 Defective trafficking resulting in haploinsufficiency is a major cellular mechanism for several missense FEVR-causing FZD4 mutants.
24386373 Polymorphisms in several genes involved in the Wnt signaling pathway were associated with hepatic fibrosis or inflammation risk in HCV-infected males.
23441120 Six different nonsynonymous DNA variants are identified in the coding region of either the FZD4 gene (p.H69Y, p.R127H, and p.Y211H) or the LRP5 gene (p.R1219H, p.H1383P, and p.T1540M) in seven patients with advanced retinopathy of prematurity
23077402 Five mutations have been found in the FZD4 gene in six Chinese families with familial exudative vitreoretinopathy.
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AA Sequence

MAWRGAGPSVPGAPGGVGLSLGLLLQLLLLLGPARGFGDEEERRCDPIRISMCQNLGYNVTKMPNLVGHE      1 - 70
LQTDAELQLTTFTPLIQYGCSSQLQFFLCSVYVPMCTEKINIPIGPCGGMCLSVKRRCEPVLKEFGFAWP     71 - 140
ESLNCSKFPPQNDHNHMCMEGPGDEEVPLPHKTPIQPGEECHSVGTNSDQYIWVKRSLNCVLKCGYDAGL    141 - 210
YSRSAKEFTDIWMAVWASLCFISTAFTVLTFLIDSSRFSYPERPIIFLSMCYNIYSIAYIVRLTVGRERI    211 - 280
SCDFEEAAEPVLIQEGLKNTGCAIIFLLMYFFGMASSIWWVILTLTWFLAAGLKWGHEAIEMHSSYFHIA    281 - 350
AWAIPAVKTIVILIMRLVDADELTGLCYVGNQNLDALTGFVVAPLFTYLVIGTLFIAAGLVALFKIRSNL    351 - 420
QKDGTKTDKLERLMVKIGVFSVLYTVPATCVIACYFYEISNWALFRYSADDSNMAVEMLKIFMSLLVGIT    421 - 490
SGMWIWSAKTLHTWQKCSNRLVNSGKVKREKRGNGWVKPGKGSETVV                           491 - 537
//

Text Mined References (62)

PMID Year Title
26530129 2015 Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.
26277630 2015 Immunohistopathological analysis of frizzled-4-positive immature melanocytes from hair follicles of patients with Rhododenol-induced leukoderma.
26244290 2015 Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy.
26158506 2015 Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5/6, and proteoglycan.
26119001 2015 Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation: A Potential Marker for Prematurity and Retinopathy.
25751279 2015 Pharmacological folding chaperones act as allosteric ligands of Frizzled4.
24744206 2014 Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.
24386373 2013 WNT signaling pathway gene polymorphisms and risk of hepatic fibrosis and inflammation in HCV-infected patients.
23441120 2013 Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
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