1. Gene
  2. FZD9 - frizzled class receptor 9 Gene

FZD9 - frizzled class receptor 9 Gene

Homo sapiens

Also known as FZD3; CD349

Gene ID: 8326 | Gene type: protein coding

About FZD9

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,433,778-73,436,120 (from NCBI)

This gene has 1 transcript (splice variant), 207 orthologues and 15 paralogues.

Summary

Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]

FZD9 Products(1)

mRNA Protein Name
NM_003508.3 NP_003499.1 frizzled-9 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables Wnt-protein binding IPI
IPI: Inferred from physical interaction
19038973 GOA
enables protein heterodimerization activity IPI
IPI: Inferred from physical interaction
14688793 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
14688793 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of neuron apoptotic process IMP
IMP: Inferred from mutant phenotype
27509850 GOA
involved in positive regulation of neural precursor cell proliferation IMP
IMP: Inferred from mutant phenotype
27509850 GOA
involved in regulation of cell cycle IMP
IMP: Inferred from mutant phenotype
27509850 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cell surface IDA
IDA: Inferred from direct assay
20458727 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
19038973 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
19038973 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FZD9 Protein Structure

Fz

Fz: Fz domain (39 - 153)

Frizzled

Frizzled: Frizzled/Smoothened family membrane region (222 - 545)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 591 a.a.
Protein Preferred Names Protein Names

frizzled-9

frizzled 9, seven transmembrane spanning receptor

Related Diseases

Diseases Alias
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Osteopathia Striata With Cranial Sclerosis

Hyperostosis Generalisata With Striations

Robinow-Unger Syndrome

OSCS

Osteopathia Striata Cranial Sclerosis

Osteopathia Striata-Cranial Sclerosis Syndrome

Horan-Beighton Syndrome

Os-Cs

Osteopathia Striata - Cranial Sclerosis

Voorhoeve Disease

Osc

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Fetal Face Syndrome

Robinow Dwarfism

Mesomelic Dwarfism-Small Genitalia Syndrome

Robinow-Silverman-Smith Syndrome

Costovertebral Segmentation Defect With Mesomelia

Covesdem Syndrome

Robinow'S Syndrome

Robinow-Silverman Syndrome

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy

Fevr

Criswick-Schepens Syndrome

Exudative Vitreoretinopathy, Familial

Vitreoretinopathy, Exudative )

Exudative Vitreoretinopathy 1

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus FZD9 VGNC VGNC:62407
Macaca mulatta FZD9 VGNC VGNC:81313
Canis familiaris FZD9 VGNC VGNC:41035
Bos taurus FZD9 VGNC VGNC:29172
Mus musculus FZD9 MGD MGI:1313278
Rattus norvegicus FZD9 RGD RGD:628817
Others FZD9 NCBI