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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/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Transcription Androgen Receptor nuclear signaling. 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 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

No data available for CIViC summary , 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
GH07G073736 2.1 FANTOM5 Ensembl ENCODE dbSUPER 1.2 +306.9 306946 7.8 CREB3L1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 MCM3 SP3 METTL27 ABHD11-AS1 MIR590 ABHD11 CLDN4 STX1A MLXIPL CLDN3 TBL2 BAZ1B
GH07G073435 1.1 Ensembl ENCODE 0.7 +3.6 3572 4.7 CTCF TFAP4 AGO1 ZIC2 RAD21 RFX5 HIC1 ZNF121 ZFHX2 GLIS2 ENSG00000202035 RNU6-1198P RNU6-1080P MLXIPL BCL7B POM121B NSUN5P2 FZD9 GC07P073471
GH07G073433 1 ENCODE 0.7 +0.1 129 0.9 ATF1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 GLIS2 ZNF143 KLF7 BCL7B METTL27 BAZ1B PMS2P7 FZD9 GC07P073471
GH07G073420 1.2 Ensembl ENCODE 0.4 -13.4 -13359 0.8 HDGF PKNOX1 ATF1 FOXA2 ARID4B MCM3 SP5 YY2 MIER3 MAFF GTF2IP4 POM121B GC07P073419 FZD9
GH07G073429 0.6 ENCODE 0.7 -4.4 -4354 0.2 ZFHX2 RFX1 RFX3 REST BMI1 EZH2 EGR2 FZD9 GC07P073419
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000213459 -78 1000 ATF1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 GLIS2 ZNF143 KLF7

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
    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 isoforms=53 and isoforms=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 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

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 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 Ontology (GO) - Molecular Function for FZD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity 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

Clone Products

  • Applied Biological Materials Clones for FZD9

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
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 19038973
GO:0009986 cell surface IDA 20458727
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: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

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

  • Applied Biological Materials Clones for FZD9

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, 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. 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

Primer Products

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 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia FZD9 34 35
  • 93.12 (n)
cow
(Bos Taurus)
Mammalia FZD9 34 35
  • 92.3 (n)
oppossum
(Monodelphis domestica)
Mammalia FZD9 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fzd9 34 16 35
  • 87.54 (n)
rat
(Rattus norvegicus)
Mammalia Fzd9 34
  • 87.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FZD9 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves FZD9 34
  • 80.3 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia fzd9 34
  • 67.67 (n)
zebrafish
(Danio rerio)
Actinopterygii fzd9b 34 35
  • 71.22 (n)
fzd9a 35
  • 70 (a)
OneToMany
-- 34
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

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
rs1001342807 -- 73,432,704(+) GAACT(A/G)TTGAT upstream-variant-2KB
rs1003019704 -- 73,435,552(+) ATTTT(A/C)ATGTC reference, missense
rs1005658496 -- 73,436,286(+) TGTGC(A/G)TGTTT downstream-variant-500B
rs1007825283 -- 73,433,297(+) CCAAA(A/G)TGGTG upstream-variant-2KB
rs1007903090 -- 73,432,845(+) CCACA(C/T)GTGGG upstream-variant-2KB

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 64
  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 64
  3. A human neurodevelopmental model for Williams syndrome. (PMID: 27509850) Chailangkarn T. … Muotri A.R. (Nature 2016) 3 4 64
  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. (J Psychiatr Res 2010) 3 46 64
  5. 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 64

Products for FZD9 Gene

Sources for FZD9 Gene

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