Frizzled Class Receptor 2

Alternative Names

  • FZD2
  • Frizzled, Drosophila, Homolog of, 2

Associated Diseases

Omodysplasia 2
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OMIM Number

600667

NCBI Gene ID

2535

Uniprot ID

Q14332

Length

3,779 bases

No. of Exons

1

No. of isoforms

1

Protein Name

Frizzled-2

Molecular Mass

63554 Da

Amino Acid Count

565

Genomic Location

chr17:44,557,483-44,561,261

Gene Map Locus
17q21.31

Description

This intronless 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. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001466.3:c.254C>AUnited Arab EmiratesNC_000017.11:g.44557942C>ALikely PathogenicOmodysplasia 2NM_001466.3:c.254C>A; NP_001457.1:p.Ser85Ter
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