Human Gene FZD9 (ENST00000344575.5) from GENCODE V44
  Description: Homo sapiens frizzled class receptor 9 (FZD9), mRNA. (from RefSeq NM_003508)
RefSeq Summary (NM_003508): 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].
Gencode Transcript: ENST00000344575.5
Gencode Gene: ENSG00000188763.5
Transcript (Including UTRs)
   Position: hg38 chr7:73,433,778-73,436,120 Size: 2,343 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg38 chr7:73,434,008-73,435,783 Size: 1,776 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:73,433,778-73,436,120)mRNA (may differ from genome)Protein (591 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Frizzled-9; Short=Fz-9; Short=hFz9; AltName: Full=FzE6; AltName: CD_antigen=CD349; Flags: Precursor;
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.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (By similarity).
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.
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 (By similarity).
DOMAIN: The FZ domain is involved in binding with Wnt ligands (By similarity).
PTM: Ubiquitinated by ZNRF3, leading to its degradation by the proteasome (By similarity).
SIMILARITY: Belongs to the G-protein coupled receptor Fz/Smo family.
SIMILARITY: Contains 1 FZ (frizzled) domain.
CAUTION: Has been first described as FZD3 in litterature.

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: FZD9
Diseases sorted by gene-association score: exudative vitreoretinopathy (5), williams-beuren syndrome (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.03 RPKM in Testis
Total median expression: 43.47 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -145.80230-0.634 Picture PostScript Text
3' UTR -166.50337-0.494 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000539 - Frizzled
IPR015526 - Frizzled/SFRP
IPR020067 - Frizzled_dom
IPR026546 - FZD9
IPR017981 - GPCR_2-like

Pfam Domains:
PF01534 - Frizzled/Smoothened family membrane region
PF01392 - Fz domain

ModBase Predicted Comparative 3D Structure on O00144
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004888 transmembrane signaling receptor activity
GO:0004930 G-protein coupled receptor activity
GO:0017147 Wnt-protein binding
GO:0042803 protein homodimerization activity
GO:0042813 Wnt-activated receptor activity
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0001503 ossification
GO:0001836 release of cytochrome c from mitochondria
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0007405 neuroblast proliferation
GO:0007611 learning or memory
GO:0016055 Wnt signaling pathway
GO:0030183 B cell differentiation
GO:0030501 positive regulation of bone mineralization
GO:0035567 non-canonical Wnt signaling pathway
GO:0043065 positive regulation of apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0051480 regulation of cytosolic calcium ion concentration
GO:0051902 negative regulation of mitochondrial depolarization
GO:0060070 canonical Wnt signaling pathway
GO:0060546 negative regulation of necroptotic process
GO:0071157 negative regulation of cell cycle arrest
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1901029 negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway
GO:1904393 regulation of skeletal muscle acetylcholine-gated channel clustering
GO:1904394 negative regulation of skeletal muscle acetylcholine-gated channel clustering
GO:1990523 bone regeneration
GO:2000179 positive regulation of neural precursor cell proliferation

Cellular Component:
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031527 filopodium membrane
GO:0031966 mitochondrial membrane
GO:0048471 perinuclear region of cytoplasm

-  Descriptions from all associated GenBank mRNAs
  BC026333 - Homo sapiens frizzled homolog 9 (Drosophila), mRNA (cDNA clone MGC:26396 IMAGE:4791657), complete cds.
JD129362 - Sequence 110386 from Patent EP1572962.
U82169 - Human frizzled homolog (FZD3) mRNA, complete cds.
DQ896696 - Synthetic construct Homo sapiens clone IMAGE:100011156; FLH196742.01L; RZPDo839H10155D frizzled homolog 9 (Drosophila) (FZD9) gene, encodes complete protein.
DQ893374 - Synthetic construct clone IMAGE:100006004; FLH196746.01X; RZPDo839H10156D frizzled homolog 9 (Drosophila) (FZD9) gene, encodes complete protein.
JD403112 - Sequence 384136 from Patent EP1572962.
JD405931 - Sequence 386955 from Patent EP1572962.
JD199152 - Sequence 180176 from Patent EP1572962.
JD187638 - Sequence 168662 from Patent EP1572962.
JD511996 - Sequence 493020 from Patent EP1572962.
JD421359 - Sequence 402383 from Patent EP1572962.
JD074190 - Sequence 55214 from Patent EP1572962.
JD183113 - Sequence 164137 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04310 - Wnt signaling pathway
hsa04916 - Melanogenesis
hsa05200 - Pathways in cancer
hsa05217 - Basal cell carcinoma

Reactome (by CSHL, EBI, and GO)

Protein O00144 (Reactome details) participates in the following event(s):

R-HSA-201708 Frizzled receptors bind Wnts
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-500792 GPCR ligand binding
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000344575.1, ENST00000344575.2, ENST00000344575.3, ENST00000344575.4, FZD3, FZD9_HUMAN, NM_003508, O00144, uc003tyb.1, uc003tyb.2, uc003tyb.3, uc003tyb.4, uc003tyb.5
UCSC ID: ENST00000344575.5
RefSeq Accession: NM_003508
Protein: O00144 (aka FZD9_HUMAN)
CCDS: CCDS5548.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.