FZD4

Frizzled-4 is a protein that in humans is encoded by the FZD4 gene.[5][6][7] FZD4 has also been designated as CD344 (cluster of differentiation 344).

FZD4
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFZD4, CD344, EVR1, FEVR, FZD4S, Fz-4, Fz4, FzE4, GPCR, hFz4, frizzled class receptor 4
External IDsOMIM: 604579 MGI: 108520 HomoloGene: 7325 GeneCards: FZD4
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q14.2Start86,945,679 bp[1]
End86,955,395 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8322

14366

Ensembl

ENSG00000174804

ENSMUSG00000049791

UniProt

Q9ULV1

Q61088

RefSeq (mRNA)

NM_012193

NM_008055

RefSeq (protein)

NP_036325

NP_032081

Location (UCSC)Chr 11: 86.95 – 86.96 MbChr 7: 89.4 – 89.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000174804 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000049791 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Kirikoshi H, Sagara N, Koike J, Tanaka K, Sekihara H, Hirai M, Katoh M (Nov 1999). "Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21". Biochemical and Biophysical Research Communications. 264 (3): 955–61. doi:10.1006/bbrc.1999.1612. PMID 10544037.
  6. Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF (Apr 2004). "Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q". American Journal of Human Genetics. 74 (4): 721–30. doi:10.1086/383202. PMC 1181948. PMID 15024691.
  7. "Entrez Gene: FZD4 frizzled homolog 4 (Drosophila)".
  8. Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J (March 2004). "Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair". Cell. 116 (6): 883–895. doi:10.1016/S0092-8674(04)00216-8. PMID 15035989. S2CID 18687651.


Further reading


This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.