Frizzled-4(Fz-4) is a protein that in humans is encoded by the FZD4 gene. [5] [6] [7] Fz-4 has also been designated as CD344 (cluster of differentiation 344).
This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Frizzled-4 is the only representative of frizzled family members that binds strongly an additional ligand Norrin that is functionally similar but structurally different from Wingless type proteins. [8] FZD4 signaling induced by Norrin regulates vascular development of vertebrate retina and controls important blood vessels in the ear. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [7]
Activin receptor type-2A is a protein that in humans is encoded by the ACVR2A gene. ACVR2A is an activin type 2 receptor.
Frizzled is a family of atypical G protein-coupled receptors that serve as receptors in the Wnt signaling pathway and other signaling pathways. When activated, Frizzled leads to activation of Dishevelled in the cytosol.
Proto-oncogene Wnt-1, or Proto-oncogene Int-1 homolog is a protein that in humans is encoded by the WNT1 gene.
Frizzled-2(Fz-2) is a protein that in humans is encoded by the FZD2 gene.
Frizzled-5(Fz-5) is a protein that in humans is encoded by the FZD5 gene.
Frizzled-3(Fz-3) is a protein that in humans is encoded by the FZD3 gene.
Frizzled-1(Fz-1) is a protein that in humans is encoded by the FZD1 gene.
Frizzled-6(Fz-6) is a protein that in humans is encoded by the FZD6 gene.
Frizzled-7(Fd-7) is a protein that in humans is encoded by the FZD7 gene.
Frizzled-8(Fz-8) is a protein that in humans is encoded by the FZD8 gene.
Frizzled-9(Fz-9) is a protein that in humans is encoded by the FZD9 gene. Fz-9 has also been designated as CD349.
Frizzled-10(Fz-10) is a protein that in humans is encoded by the FZD10 gene. Fz-10 has also been designated as CD350.
Polycystin-2(PC2) is a protein that in humans is encoded by the PKD2 gene.
Low-density lipoprotein receptor-related protein 5 is a protein that in humans is encoded by the LRP5 gene. LRP5 is a key component of the LRP5/LRP6/Frizzled co-receptor group that is involved in canonical Wnt pathway. Mutations in LRP5 can lead to considerable changes in bone mass. A loss-of-function mutation causes osteoporosis pseudoglioma syndrome with a decrease in bone mass, while a gain-of-function mutation causes drastic increases in bone mass.
Leukocyte receptor tyrosine kinase is an enzyme that in humans is encoded by the LTK gene.
Norrin, also known as Norrie disease protein or X-linked exudative vitreoretinopathy 2 protein (EVR2) is a protein that in humans is encoded by the NDP gene. Mutations in the NDP gene are associated with the Norrie disease.
Membrane frizzled-related protein is a protein that in humans is encoded by the MFRP gene.
Wingless-type MMTV integration site family, member 2, also known as WNT2, is a human gene.
Tetraspanin-12 (Tspan-12) also known as tetraspan NET-2 (NET2) or transmembrane 4 superfamily member 12 (TM4SF12) is a tetraspanin protein that in humans is encoded by the TSPAN12 gene. Tetraspanin-12 is found in the membrane of a variety of cells. It has an unusually long C-terminal intracellular tail of approximately 60 amino acids.
Patched 2 is a protein that in humans is encoded by the PTCH2 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.