Frizzled Class Receptor 4

Alternative Names

  • FZD4
  • Frizzled, Drosophila, Homolog of, 4
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OMIM Number

604579

NCBI Gene ID

8322

Uniprot ID

Q9ULV1

Length

9,717 bases

No. of Exons

2

No. of isoforms

1

Protein Name

Frizzled-4

Molecular Mass

59881 Da

Amino Acid Count

537

Genomic Location

chr11:86,945,678-86,955,394

Gene Map Locus
11q14.2

Description

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. 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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_012193.4:c.762delLebanonchr11:86951994Likely PathogenicExudative Vitreoretinopathy 1NG_011752.1:g.8398del; NM_012193.4:c.762del; NP_036325.2:p.Pro254fs
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