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Index > Protein center > FZD4(Gene name) > Human
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  • FZD4 (Gene name),
  • Frizzled-4 (Protein name ),  FZD4_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    FZD4;
    Protein name:
    Frizzled-4(Fz-4;hFz4);
    Alternative:
    FzE4;
    CD:
    CD344;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interacts with MAGI3 and norrin (NDP). Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP).
    Function:
    Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP). In retina, it can be both activated by Wnt protein-binding, but also by a Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accumulation and stimulation of LEF/TCF-mediated transcriptional programs. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.
    Subcellular Location:
    Membrane Multi-pass membrane protein Cell membrane Multi-pass membrane protein
    Protein Attributes:
    Sequence length:
    537
    Sequence:
    50:
    MAWRGAGPSV | PGAPGGVGLS | LGLLLQLLLL | LGPARGFGDE | EERRCDPIRI | 
    100:
    SMCQNLGYNV | TKMPNLVGHE | LQTDAELQLT | TFTPLIQYGC | SSQLQFFLCS | 
    150:
    VYVPMCTEKI | NIPIGPCGGM | CLSVKRRCEP | VLKEFGFAWP | ESLNCSKFPP | 
    200:
    QNDHNHMCME | GPGDEEVPLP | HKTPIQPGEE | CHSVGTNSDQ | YIWVKRSLNC | 
    250:
    VLKCGYDAGL | YSRSAKEFTD | IWMAVWASLC | FISTAFTVLT | FLIDSSRFSY | 
    300:
    PERPIIFLSM | CYNIYSIAYI | VRLTVGRERI | SCDFEEAAEP | VLIQEGLKNT | 
    350:
    GCAIIFLLMY | FFGMASSIWW | VILTLTWFLA | AGLKWGHEAI | EMHSSYFHIA | 
    400:
    AWAIPAVKTI | VILIMRLVDA | DELTGLCYVG | NQNLDALTGF | VVAPLFTYLV | 
    450:
    IGTLFIAAGL | VALFKIRSNL | QKDGTKTDKL | ERLMVKIGVF | SVLYTVPATC | 
    500:
    VIACYFYEIS | NWALFRYSAD | DSNMAVEMLK | IFMSLLVGIT | SGMWIWSAKT | 
    537:
    LHTWQKCSNR | LVNSGKVKRE | KRGNGWVKPG | KGSETVV
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    KEGG:
    UniGene:
    SMR:
    MIM:
    Pfam:
    String:
    Uniprot:
     
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    Polyclonal Antibody for Human Fz-4
    Polyclonal Antibody for Human Fz-4
    Monoclonal Antibody for Human Fz-4
    Monoclonal Antibody for Human Fz-4
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    Monoclonal Antibody for Human Fz-4
    Protein for Human Fz-4
    Protein for Human Fz-4
    Protein for Human Fz-4
    Protein for Human Fz-4

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    References
    1. 1.
      "Molecular cloning and characterization of human frizzled-4 on chromosome 11q14-q21."
      Kirikoshi H. , Sagara N. , Koike J. , Tanaka K. , Sekihara H. , Hirai M. , Katoh M.
      Biochem. Biophys. Res. Commun.264:955-961(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
      tissue: Fetal lung.
    2. 2.
      "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
      Kopatz S.A. , Aronstam R.S. , Sharma S.V.
      Submitted (2003-11) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Heart.
    3. 3.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Trachea.
    4. 4.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    5. 5.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
    6. 6.
      "A novel frizzled gene identified in human esophageal carcinoma mediates APC/beta-catenin signals."
      Tanaka S. , Akiyoshi T. , Mori M. , Wands J.R. , Sugimachi K.
      Proc. Natl. Acad. Sci. U.S.A.95:10164-10169(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 257-318
      tissue: Esophageal carcinoma.
    7. 7.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: UBIQUITINATION BY ZNRF3
    8. 8.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EVR1 493-MET-TRP-494 DEL;CHARACTERIZATION OF VARIANT EVR1 493-MET-TRP-494 DEL
    9. 9.
      "Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity."
      Kondo H. , Hayashi H. , Oshima K. , Tahira T. , Hayashi K.
      Br. J. Ophthalmol.87:1291-1295(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR1 TYR-69; VAL-105; GLN-417 AND ASP-488
    10. 10.
      "Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy."
      Yoshida S. , Arita R. , Yoshida A. , Tada H. , Emori A. , Noda Y. , Nakao S. , Fujisawa K. , Ishibashi T.
      Am. J. Ophthalmol.138:670-671(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EVR1 VAL-342
    11. 11.
      "Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair."
      Xu Q. , Wang Y. , Dabdoub A. , Smallwood P.M. , Williams J. , Woods C. , Kelley M.W. , Jiang L. , Tasman W. , Zhang K. , Nathans J.
      Cell116:883-895(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR1 VAL-105 AND VAL-157;CHARACTERIZATION OF VARIANTS EVR1 VAL-105; VAL-157 AND 493-MET-TRP-494 DEL
    12. 12.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR1 ASP-36; THR-105; VAL-157 AND PHE-497;VARIANT SER-168
    13. 13.
      "Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)."
      Omoto S. , Hayashi T. , Kitahara K. , Takeuchi T. , Ueoka Y.
      Ophthalmic Genet.25:81-90(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR1 TYR-69 AND ARG-181
    14. 14.
      "Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity."
      MacDonald M.L. , Goldberg Y.P. , Macfarlane J. , Samuels M.E. , Trese M.T. , Shastry B.S.
      Clin. Genet.67:363-366(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR1 SER-33 AND VAL-256;VARIANT SER-168
    15. 15.
      "Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes."
      Qin M. , Hayashi H. , Oshima K. , Tahira T. , Hayashi K. , Kondo H.
      Hum. Mutat.26:104-112(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR1 TYR-69; VAL-105; CYS-335; VAL-342; GLN-417 AND ASP-488
    16. 16.
      "Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy."
      Nallathambi J. , Shukla D. , Rajendran A. , Namperumalsamy P. , Muthulakshmi R. , Sundaresan P.
      Mol. Vis.12:1086-1092(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR1 SER-33 AND ARG-204
    17. 17.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-436
    18. 18.
      "Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy."
      Qin M. , Kondo H. , Tahira T. , Hayashi K.
      Hum. Genet.122:615-623(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS EVR1 VAL-105 AND GLN-417;CHARACTERIZATION OF VARIANT TYR-69
    19. 19.
      "Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy."
      Boonstra F.N. , van Nouhuys C.E. , Schuil J. , de Wijs I.J. , van der Donk K.P. , Nikopoulos K. , Mukhopadhyay A. , Scheffer H. , Tilanus M.A.D. , Cremers F.P.M. , Hoefsloot L.H.
      Invest. Ophthalmol. Vis. Sci.50:4379-4385(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR1 SER-33; LYS-223 AND PRO-445;VARIANT SER-168
    20. 20.
      "Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees."
      Robitaille J.M. , Wallace K. , Zheng B. , Beis M.J. , Samuels M. , Hoskin-Mott A. , Guernsey D.L.
      Ophthalmic Genet.30:23-30(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR1 THR-114 AND 493-MET-TRP-494 DEL
    21. 21.
      "Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP."
      Nikopoulos K. , Venselaar H. , Collin R.W.J. , Riveiro-Alvarez R. , Boonstra F.N. , Hooymans J.M. , Mukhopadhyay A. , Shears D. , van Bers M. , de Wijs I.J. , van Essen A.J. , Sijmons R.H. , Tilanus M.A.D. , van Nouhuys C.E. , Ayuso C. , Hoefsloot L.H. , Cremers F.P.M.
      Hum. Mutat.31:656-666(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EVR1 GLN-40; TYR-204 AND ARG-525
    22. 22.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS RETINOPATHY OF PREMATURITY ASN-203 AND GLY-370
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