Property Summary

NCBI Gene PubMed Count 57
PubMed Score 92.50
PubTator Score 70.19

Knowledge Summary

Patent (14,667)


  Differential Expression (11)

Disease log2 FC p
psoriasis -1.300 2.7e-04
osteosarcoma -1.802 1.5e-03
non-small cell lung carcinoma -1.500 6.3e-33
intraductal papillary-mucinous neoplasm ... -1.100 2.4e-02
lung cancer -1.100 3.3e-03
breast carcinoma -1.900 9.2e-04
fibroadenoma -2.000 2.0e-02
lung adenocarcinoma -2.300 1.6e-13
lung carcinoma -1.300 1.7e-07
ductal carcinoma in situ -2.100 9.1e-04
invasive ductal carcinoma -2.500 8.9e-03

 CSPA Cell Line (1)

Gene RIF (40)

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.
22574936 Genetic analysis revealed that all affected family members of one pedigree carried an exon 2 mutation of COL2A1, and in the second pedigree, all affected members carried an FZD4 mutation.
22057916 miR-493 is a new tumor suppressor miRNA in bladder cancer and inhibits cell motility through downregulation of RhoC and FZD4.
21363911 Frizzled 4 is a member of the Wnt signaling family that governs both stemness and invasiveness of glioma stem cells, and that it may be a major cause of GBM recurrence and poor prognosis.
21097938 FZD4 mutation screening can be a useful tool especially in mild or atypical cases of familial exudative vitreoretinopathy & Germ-line mutations in FZD4 do not appear to be a common cause of Coats disease.
20938005 The profile of the mutations obtained in FZD4 further illustrates the complexity of familial exudative vitreoretinopathy (FEVR)and provides a better understanding of the genotype-phenotype correlations.
20938005 Observational study of gene-disease association. (HuGE Navigator)
20819778 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20713528 Results provide mechanistic insights to ERG oncogenesis in prostate cancer, involving activation of WNT signaling through FZD4, leading to cancer-promoting phenotypic effects, including EMT and loss of cell adhesion.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20340138 Studies report 21 novel variants for FZD4, LRP5, and NDP.
20141357 Mutations in the FZD4 gene in this group of premature infants supports a role for the FZD4 pathway in the development of severe retinopathy of prematurity.
20008721 Mutations occurring in the FZD4 gene affect patients diagnosed with both autosomal-dominant familial exudative vitreoretinopathy (AdFEVR) or retinopathy of prematurity (ROP)
20008721 Observational study of gene-disease association. (HuGE Navigator)
19453261 Observational study of gene-disease association. (HuGE Navigator)
19172507 The clinical features in the three children and their relatives with a documented FZD4 mutation support the previous reports of a high degree of intrafamilial and interfamilial variability in familial exudative vitreoretinopathy (FEVR).
19020754 Report activation of Wnt signalling in acute myeloid leukemia by induction of Frizzled-4.
18976975 Knockdown of frizzled family receptor 4 (FZD4) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells
18787502 Observational study of gene-disease association. (HuGE Navigator)
18161623 Homozygous state for the FZD4 gene is possibly involved in the severity of the familial exudative vitreoretinopathy phenotype
18156211 sFRP-1 can interact with Wnt receptors Frizzled 4 and 7 on endothelial cells to transduce downstream to cellular machineries requiring Rac-1 activity in cooperation with GSK-3beta
17386109 Fz4 expression may play a critical role in responses to Wnt signaling in the tumor microenvironment.
17093393 Mutations in FZD4 were observed in 5.6% of studied clinically diagnosed familial exudative vitreoretinopathy in Indian population. Could play vital role in pathogenesis and provide greater insight in to genotype/phenotypic functions of FZD4 gene.
15981244 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15981244 mutations in the LRP5 and/or FZD4 genes may have roles in familial exudative vitreoretinopathy
15488808 A novel missense mutation in the FZD4 gene was identified in Japanese patients with FEVR (familial exudative vitreoretinopathy).
15370539 FZD4 mutations are associated with autosomal dominant familial exudative vitreoretinopathy
15223780 Eight mutations have been identified in the FZD4 gene in a cohort of 40 unrelated patients with FEVR (familial exudative vitreoretinopathy)
15024691 Familial exudative vitreoretinopathy has mutations in a second gene at the EVR1 locus, low-density-lipoprotein receptor-related protein 5 (LRP5), a Wnt coreceptor
14737064 High-resolution genotyping and haplotype analysis excluded FZD4 as the defective gene in a family previously linked to the EVR1 locus.
12172548 Functions in retinal angiogenesis. Mutations disrupts angiogenesis in vitreoretinopathy.

AA Sequence


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.
23077402 2012 Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.
22575959 2012 ZNRF3 promotes Wnt receptor turnover in an R-spondin-sensitive manner.
22574936 2012 Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
22057916 2012 Tumor suppressor microRNA-493 decreases cell motility and migration ability in human bladder cancer cells by downregulating RhoC and FZD4.
21363911 2011 Frizzled 4 regulates stemness and invasiveness of migrating glioma cells established by serial intracranial transplantation.
21097938 2011 The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.
20938005 2010 Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.
20819778 2010 MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
20802536 2011 Direct interaction between NHERF1 and Frizzled regulates ?-catenin signaling.
20713528 2010 FZD4 as a mediator of ERG oncogene-induced WNT signaling and epithelial-to-mesenchymal transition in human prostate cancer cells.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20340138 2010 Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
20141357 2010 Severe retinopathy of prematurity associated with FZD4 mutations.
20008721 2009 Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene.
19837033 2009 TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.
19643732 2009 A coated vesicle-associated kinase of 104 kDa (CVAK104) induces lysosomal degradation of frizzled 5 (Fzd5).
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19388021 2009 Sequence requirement and subtype specificity in the high-affinity interaction between human frizzled and dishevelled proteins.
19324841 2009 Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.
19277043 2009 Secreted Frizzled-related protein-1 is a negative regulator of androgen receptor activity in prostate cancer.
19172507 2009 Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.
19020754 2008 Activation of Wnt signalling in acute myeloid leukemia by induction of Frizzled-4.
18787502 2009 Genetic contributions to the development of retinopathy of prematurity.
18161623 2007 Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene.
18156211 2008 Regulation of endothelial cell cytoskeletal reorganization by a secreted frizzled-related protein-1 and frizzled 4- and frizzled 7-dependent pathway: role in neovessel formation.
17955262 2008 Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
17386109 2007 Regulation of norrin receptor frizzled-4 by Wnt2 in colon-derived cells.
17093393 2006 Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15981244 2005 Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
15733276 2005 Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15488808 2004 Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.
15370539 2004 Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).
15223780 2004 Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
15195140 2004 MAGI-3 is involved in the regulation of the JNK signaling pathway as a scaffold protein for frizzled and Ltap.
15035989 2004 Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.
15024691 2004 Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
14737064 2004 Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14688793 2004 Mutant Frizzled 4 associated with vitreoretinopathy traps wild-type Frizzled in the endoplasmic reticulum by oligomerization.
14507768 2003 Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.
12958364 2003 Dishevelled 2 recruits beta-arrestin 2 to mediate Wnt5A-stimulated endocytosis of Frizzled 4.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12172548 2002 Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.
12067714 2002 Direct interaction of Frizzled-1, -2, -4, and -7 with PDZ domains of PSD-95.
12044878 2002 Identification of G protein-coupled receptor genes from the human genome sequence.
11401527 2001 FZD4S, a splicing variant of frizzled-4, encodes a soluble-type positive regulator of the WNT signaling pathway.
10544037 1999 Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21.
9707618 1998 A novel frizzled gene identified in human esophageal carcinoma mediates APC/beta-catenin signals.
1598965 1992 The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11.