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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
  • 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
  • Frizzled-9 3
  • 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 Exudative Vitreoretinopathy and Williams-Beuren Syndrome. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/PCP Signaling Pathways and Reelin Pathway (Cajal-Retzius cells). 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 for FZD9 Gene

  • Receptor for Wnt proteins. Most of frizzled receptors are 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. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.

Gene Wiki entry for FZD9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FZD9 Gene

Genomics for FZD9 Gene

Regulatory Elements for FZD9 Gene

Enhancers for FZD9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around FZD9 on UCSC Golden Path with GeneCards custom track

Promoters for FZD9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for FZD9 Gene

Chromosome:
7
Start:
73,433,779 bp from pter
End:
73,436,120 bp from pter
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

neXtProt entry for FZD9 Gene

Post-translational modifications for FZD9 Gene

  • Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.
  • Glycosylation at Asn 53 and Asn 158
  • 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

Protein Domains for FZD9 Gene

Suggested Antigen Peptide Sequences for FZD9 Gene

GenScript: Design optimal peptide antigens:

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 doman 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 doman 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.
  • Contains 1 FZ (frizzled) domain.
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

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
UniProtKB/Swiss-Prot Function:
Receptor for Wnt proteins. Most of frizzled receptors are 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. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.

Gene Ontology (GO) - Molecular Function for FZD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IBA --
GO:0017147 Wnt-protein binding IPI 19038973
GO:0042803 protein homodimerization activity IPI 14688793
GO:0042813 Wnt-activated receptor activity IEA --
GO:0046982 protein heterodimerization 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

Clone Products

Flow Cytometry 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FZD9 Gene COMPARTMENTS Subcellular localization image for FZD9 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for FZD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19038973
GO:0005886 plasma membrane IEA,IDA 19038973
GO:0009986 cell surface IDA 20458727
GO:0016021 integral component of membrane IEA --
GO:0031527 filopodium membrane IEA --
genes like me logo Genes that share ontologies with FZD9: view

Pathways & Interactions for FZD9 Gene

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

Gene Ontology (GO) - Biological Process for FZD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007399 nervous system development TAS 9147651
GO:0007405 neuroblast proliferation IEA --
GO:0007611 learning or memory IEA --
GO:0016055 Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with FZD9: view

No data available for SIGNOR curated interactions for FZD9 Gene

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 Nutra 0
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 where relevant :

Unigene Clusters for FZD9 Gene

Frizzled family receptor 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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, PaxDb, 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.
genes like me logo Genes that share expression patterns with FZD9: view

Primer Products

Orthologs for FZD9 Gene

This gene was present in the common ancestor of animals.

Orthologs for FZD9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FZD9 34
  • 92.3 (n)
  • 96.1 (a)
FZD9 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FZD9 34
  • 93.12 (n)
  • 96.79 (a)
FZD9 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fzd9 34
  • 87.54 (n)
  • 95.77 (a)
Fzd9 16
Fzd9 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FZD9 34
  • 99.61 (n)
  • 100 (a)
FZD9 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fzd9 34
  • 87.48 (n)
  • 95.94 (a)
oppossum
(Monodelphis domestica)
Mammalia FZD9 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FZD9 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves FZD9 34
  • 80.3 (n)
  • 79.73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fzd9 34
  • 67.67 (n)
  • 72.82 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 34
fzd9b 34
  • 71.22 (n)
  • 75.36 (a)
fzd9a 35
  • 70 (a)
OneToMany
fzd9b 35
  • 74 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta fz2 35
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for FZD9 Gene

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

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 Sequence Context AA Info Type
rs42120 -- 73,432,532(-) ggtgc(C/G)atctt upstream-variant-2KB
rs55668598 -- 73,433,874(+) GCCCA(G/T)GGCGC utr-variant-5-prime
rs1178945 -- 73,436,497(-) GGAGG(C/G)GGTCC downstream-variant-500B
rs1178946 -- 73,435,965(-) ATTAG(A/G)GGAGA utr-variant-3-prime
rs1178947 -- 73,435,848(-) AGGGG(A/G)TGCAG utr-variant-3-prime

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)

Relevant External Links for FZD9 Gene

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

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
exudative vitreoretinopathy
  • exudative vitreoretinopathy 1
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FZD9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FZD9

Genetic Association Database (GAD)
FZD9
Human Genome Epidemiology (HuGE) Navigator
FZD9
Tumor Gene Database (TGDB):
FZD9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FZD9
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 Y.-K. … Francke U. (Hum. Mol. Genet. 1997) 2 3 4 22 65
  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 Y.K. … Francke U. (Genomics 1999) 2 3 22 65
  3. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E. … Estivill X. (J Psychiatr Res 2010) 3 46 65
  4. Identification of WNT/beta-CATENIN signaling pathway components in human cumulus cells. (PMID: 19038973) Wang H.X. … Kidder G.M. (Mol. Hum. Reprod. 2009) 3 22 65
  5. Non-association between polymorphisms of the frizzled receptor genes and bone mineral density in postmenopausal Korean women. (PMID: 19543507) Kim J.G. … Moon S.Y. (J. Korean Med. Sci. 2009) 3 46 65

Products for FZD9 Gene

Sources for FZD9 Gene

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