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 m... See more...

Aliases for FZD9 Gene

Aliases for FZD9 Gene

  • Frizzled Class Receptor 9 2 3 5
  • Frizzled 9, Seven Transmembrane Spanning Receptor 2 3
  • Frizzled Family Receptor 9 2 3
  • Frizzled-9 3 4
  • Fz-9 3 4
  • FzE6 3 4
  • FZD3 3 4
  • HFz9 3 4
  • Frizzled (Drosophila) Homolog 9 2
  • Frizzled Homolog 9 (Drosophila) 2
  • Frizzled Homolog 9 3
  • CD349 Antigen 4
  • CD349 3

External Ids for FZD9 Gene

Previous GeneCards Identifiers for FZD9 Gene

  • GC07P071488
  • GC07P072246
  • GC07P072260
  • GC07P072292
  • GC07P072486
  • GC07P072848
  • GC07P068729

Summaries for FZD9 Gene

Entrez Gene Summary for FZD9 Gene

  • 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]

GeneCards Summary for FZD9 Gene

FZD9 (Frizzled Class Receptor 9) is a Protein Coding gene. Diseases associated with FZD9 include Williams-Beuren Syndrome and Exudative Vitreoretinopathy. Among its related pathways are Transcription Androgen Receptor nuclear signaling and Wnt Signaling Pathway and Pluripotency. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and protein heterodimerization activity. An important paralog of this gene is FZD10.

UniProtKB/Swiss-Prot Summary for FZD9 Gene

  • Receptor for WNT2 that is coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). Plays a role in neuromuscular junction (NMJ) assembly by negatively regulating the clustering of acetylcholine receptors (AChR) through the beta-catenin canonical signaling pathway (By similarity). May play a role in neural progenitor cells (NPCs) viability through the beta-catenin canonical signaling pathway by negatively regulating cell cycle arrest leading to inhibition of neuron apoptotic process (PubMed:27509850). During hippocampal development, regulates neuroblast proliferation and apoptotic cell death. Controls bone formation through non canonical Wnt signaling mediated via ISG15. Positively regulates bone regeneration through non canonical Wnt signaling (By similarity).

Gene Wiki entry for FZD9 Gene

Additional gene information for FZD9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FZD9 Gene

Genomics for FZD9 Gene

GeneHancer (GH) Regulatory Elements for FZD9 Gene

Promoters and enhancers for FZD9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J073433 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 750.6 -0.1 -78 1.4 ZBTB40 SP1 SMARCE1 POLR2A TCF7L2 ZNF362 CC2D1A L3MBTL2 MNT ZFX FZD9 RF00017-6306 POM121B POM121 STAG3L3 NSUN5P2 TBL2 BCL7B MIR590 NSUN5
GH07J073368 Enhancer 0.6 Ensembl 12.6 -64.5 -64478 1 SP5 MNT SCRT2 SAP130 FOXA2 ESRRA HNF4A SMAD4 KDM1A NR2F6 ENSG00000202035 FZD9 RNU6-1080P RNU6-1198P POM121B piR-37750-009 RF00026-1014
GH07J073366 Enhancer 0.5 Ensembl 12.6 -66.4 -66378 2.4 CEBPG CEBPA ZSCAN4 NR2F1 EBF1 ENSG00000202035 FZD9 RNU6-1080P RNU6-1198P POM121B piR-37750-009 RF00026-1014
GH07J073374 Enhancer 0.3 Ensembl 12.6 -59.8 -59778 0.4 EGR1 lnc-FKBP6-2 ENSG00000202035 FZD9 RNU6-1080P RNU6-1198P POM121B piR-42694-152
GH07J073736 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.2 +306.9 306946 7.8 SP1 ZBTB40 SREBF1 ZBTB6 SMARCE1 RBPJ POLR2A USF2 NR2F1 NR2F6 ABHD11 lnc-BUD23-2 lnc-BUD23-3 lnc-STX1A-1 STAG3L3 METTL27 POM121B POM121 BAZ1B NSUN5P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FZD9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FZD9 gene promoter:
  • AhR
  • AML1a
  • ATF
  • Elk-1
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP

Genomic Locations for FZD9 Gene

Genomic Locations for FZD9 Gene
chr7:73,433,779-73,436,120
(GRCh38/hg38)
Size:
2,342 bases
Orientation:
Plus strand
chr7:72,848,109-72,850,450
(GRCh37/hg19)
Size:
2,342 bases
Orientation:
Plus strand

Genomic View for FZD9 Gene

Genes around FZD9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FZD9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FZD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FZD9 Gene

Proteins for FZD9 Gene

  • Protein details for FZD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00144-FZD9_HUMAN
    Recommended name:
    Frizzled-9
    Protein Accession:
    O00144

    Protein attributes for FZD9 Gene

    Size:
    591 amino acids
    Molecular mass:
    64466 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Authors show that FZD9 is responsible for the cellular phenotype found in neural progenitor cells (NPCs) derived from Williams syndrome patients namely increased apoptosis of neural progenitor cells (NPCs).

neXtProt entry for FZD9 Gene

Post-translational modifications for FZD9 Gene

  • Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.
  • Glycosylation at Asn53 and Asn158
  • Modification sites at PhosphoSitePlus

Other Protein References for FZD9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FZD9 Gene

Domains & Families for FZD9 Gene

Gene Families for FZD9 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • G-protein coupled receptors
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for FZD9 Gene

GenScript: Design optimal peptide antigens:
  • FzE6 (FZD9_HUMAN)
  • Frizzled homolog 9 (Drosophila) (Q8TAN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00144

UniProtKB/Swiss-Prot:

FZD9_HUMAN :
  • Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.
  • Belongs to the G-protein coupled receptor Fz/Smo family.
Domain:
  • Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.
  • The FZ domain is involved in binding with Wnt ligands.
Family:
  • Belongs to the G-protein coupled receptor Fz/Smo family.
genes like me logo Genes that share domains with FZD9: view

Function for FZD9 Gene

Molecular function for FZD9 Gene

UniProtKB/Swiss-Prot Function:
Receptor for WNT2 that is coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). Plays a role in neuromuscular junction (NMJ) assembly by negatively regulating the clustering of acetylcholine receptors (AChR) through the beta-catenin canonical signaling pathway (By similarity). May play a role in neural progenitor cells (NPCs) viability through the beta-catenin canonical signaling pathway by negatively regulating cell cycle arrest leading to inhibition of neuron apoptotic process (PubMed:27509850). During hippocampal development, regulates neuroblast proliferation and apoptotic cell death. Controls bone formation through non canonical Wnt signaling mediated via ISG15. Positively regulates bone regeneration through non canonical Wnt signaling (By similarity).
GENATLAS Biochemistry:
Drosophila frizzled polarity gene homolog,G protein coupled receptor superfamily,exhibiting characteristics of a WNT receptor,expressed in brain,testis,eye,skeletal muscle,kidney,involved in signal transduction,activating Dishevelled,located in the WBS1 deletion

Phenotypes From GWAS Catalog for FZD9 Gene

Gene Ontology (GO) - Molecular Function for FZD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G protein-coupled receptor activity IEA --
GO:0005515 protein binding IEA --
GO:0017147 Wnt-protein binding IPI 19038973
GO:0042803 protein homodimerization activity IPI 14688793
genes like me logo Genes that share ontologies with FZD9: view
genes like me logo Genes that share phenotypes with FZD9: view

Animal Models for FZD9 Gene

MGI Knock Outs for FZD9:

Animal Model Products

  • Taconic Biosciences Mouse Models for FZD9

CRISPR Products

miRNA for FZD9 Gene

miRTarBase miRNAs that target FZD9

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FZD9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FZD9 Gene

Localization for FZD9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FZD9 Gene

Cell membrane; Multi-pass membrane protein. Note=Relocalizes DVL1 to the cell membrane leading to phosphorylation of DVL1 and AXIN1 relocalization to the cell membrane. {ECO:0000250 UniProtKB:Q8K4C8}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FZD9 gene
Compartment Confidence
plasma membrane 5
mitochondrion 4
endoplasmic reticulum 4
golgi apparatus 4
extracellular 1
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FZD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19038973
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane IDA,TAS 19038973
GO:0009986 cell surface IDA 20458727
genes like me logo Genes that share ontologies with FZD9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FZD9 Gene

Pathways & Interactions for FZD9 Gene

genes like me logo Genes that share pathways with FZD9: view

Pathways by source for FZD9 Gene

11 Qiagen pathways for FZD9 Gene
  • Colorectal Cancer Metastasis
  • Factors Promoting Cardiogenesis in Vertebrates
  • G12-G13 in Cellular Signaling
  • Glioblastoma Multiforme
  • GSK3 Signaling
2 GeneTex pathways for FZD9 Gene

SIGNOR curated interactions for FZD9 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for FZD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification ISS --
GO:0001836 release of cytochrome c from mitochondria ISS --
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with FZD9: view

Drugs & Compounds for FZD9 Gene

(2) Drugs for FZD9 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773
genes like me logo Genes that share compounds with FZD9: view

Transcripts for FZD9 Gene

mRNA/cDNA for FZD9 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FZD9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FZD9 Gene

No ASD Table

Relevant External Links for FZD9 Gene

GeneLoc Exon Structure for
FZD9
ECgene alternative splicing isoforms for
FZD9

Expression for FZD9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FZD9 Gene

mRNA differential expression in normal tissues according to GTEx for FZD9 Gene

This gene is overexpressed in Muscle - Skeletal (x5.4) and Testis (x4.3).

Protein differential expression in normal tissues from HIPED for FZD9 Gene

This gene is overexpressed in Lung (44.0), Monocytes (16.3), and Heart (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FZD9 Gene



Protein tissue co-expression partners for FZD9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FZD9 Gene:

FZD9

SOURCE GeneReport for Unigene cluster for FZD9 Gene:

Hs.647029

mRNA Expression by UniProt/SwissProt for FZD9 Gene:

O00144-FZD9_HUMAN
Tissue specificity: Expressed predominantly in adult and fetal brain, testis, eye, skeletal muscle and kidney. Moderately expressed in pancreas, thyroid, adrenal cortex, small intestine and stomach. Detected in fetal liver and kidney. Expressed in neural progenitor cells (PubMed:27509850).

Evidence on tissue expression from TISSUES for FZD9 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with FZD9: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FZD9 Gene

Orthologs for FZD9 Gene

This gene was present in the common ancestor of animals.

Orthologs for FZD9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FZD9 33 32
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FZD9 33 32
  • 93.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FZD9 33 32
  • 92.3 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FZD9 33
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fzd9 17 33 32
  • 87.54 (n)
rat
(Rattus norvegicus)
Mammalia Fzd9 32
  • 87.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FZD9 33
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves FZD9 32
  • 80.3 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia fzd9 32
  • 67.67 (n)
zebrafish
(Danio rerio)
Actinopterygii fzd9b 33 32
  • 71.22 (n)
OneToMany
fzd9a 33
  • 70 (a)
OneToMany
-- 32
fruit fly
(Drosophila melanogaster)
Insecta fz2 33
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 45 (a)
OneToMany
Species where no ortholog for FZD9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FZD9 Gene

ENSEMBL:
Gene Tree for FZD9 (if available)
TreeFam:
Gene Tree for FZD9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FZD9: view image

Paralogs for FZD9 Gene

Paralogs for FZD9 Gene

(10) SIMAP similar genes for FZD9 Gene using alignment to 2 proteins:

  • FZD9_HUMAN
  • Q8TAN2_HUMAN
genes like me logo Genes that share paralogs with FZD9: view

Variants for FZD9 Gene

Sequence variations from dbSNP and Humsavar for FZD9 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1001342807 -- 73,432,704(+) G/A upstream_transcript_variant
rs1003019704 -- 73,435,552(+) C/A coding_sequence_variant, missense_variant
rs1005658496 -- 73,436,286(+) G/A downstream_transcript_variant
rs1007825283 -- 73,433,297(+) A/G upstream_transcript_variant
rs1007903090 -- 73,432,845(+) C/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FZD9 Gene

Variant ID Type Subtype PubMed ID
dgv6467n100 CNV gain 25217958
esv2759537 CNV gain+loss 17122850
nsv831027 CNV loss 17160897

Variation tolerance for FZD9 Gene

Residual Variation Intolerance Score: 4.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FZD9 Gene

Human Gene Mutation Database (HGMD)
FZD9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FZD9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FZD9 Gene

Disorders for FZD9 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FZD9 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
exudative vitreoretinopathy
  • exudative vitreoretinopathy 1
- elite association - COSMIC cancer census association via MalaCards
Search FZD9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FZD9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FZD9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FZD9 Gene

Publications for FZD9 Gene

  1. A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. (PMID: 9147651) Wang YK … Francke U (Human molecular genetics 1997) 2 3 4 23 56
  2. Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome. (PMID: 10198163) Wang YK … Francke U (Genomics 1999) 2 3 23 56
  3. A human neurodevelopmental model for Williams syndrome. (PMID: 27509850) Chailangkarn T … Muotri AR (Nature 2016) 3 4 56
  4. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E … Estivill X (Journal of psychiatric research 2010) 3 43 56
  5. Identification of WNT/beta-CATENIN signaling pathway components in human cumulus cells. (PMID: 19038973) Wang HX … Kidder GM (Molecular human reproduction 2009) 3 23 56

Products for FZD9 Gene

Sources for FZD9 Gene