FZD9 frizzled class receptor 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FZD9provided by HGNC
Official Full Name: frizzled class receptor 9provided by HGNC
Primary source: HGNC:HGNC:4047
See related: Ensembl:ENSG00000188763 MIM:601766; AllianceGenome:HGNC:4047
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FZD3; CD349
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]
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (73433778..73436120)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (74634272..74636614)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (72848108..72850450)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-520a-5p regulates Frizzled 9 expression and mediates effects of cigarette smoke and iloprost chemoprevention.
Title: miR-520a-5p regulates Frizzled 9 expression and mediates effects of cigarette smoke and iloprost chemoprevention.
data enforced the evidence that knockdown of c-Fos inhibited cell proliferation, migration, and invasion, and promoted the apoptosis of OS cells accompanied by altered expression of Wnt2 and Fzd9
Title: Involvement of c-Fos in cell proliferation, migration, and invasion in osteosarcoma cells accompanied by altered expression of Wnt2 and Fzd9.
the present study indicated that the methylation profile of the FZD9 gene corresponded to that of a candidate tumorsuppressor gene in acute myeloid leukemia.
Title: Methylation status of the promoter region of the human frizzled 9 gene in acute myeloid leukemia.
The activity of the Sprouty4 promoter is increased by Wnt7A/Fzd9 signaling through peroxisome proliferator-activated receptor gamma in lung cancer cells.
Title: Sprouty-4 inhibits transformed cell growth, migration and invasion, and epithelial-mesenchymal transition, and is regulated by Wnt7A through PPARgamma in non-small cell lung cancer.
The presence of nanog, Oct-4, SSEA-1, and SSEA-4 suggests that periodontal ligament mesenchymal stem cells are less differentiated than bone marrow-derived MSCs, and that the frizzled-9/Wnt pathway is important in proliferation and differentiation.
Title: Expression profile of the embryonic markers nanog, OCT-4, SSEA-1, SSEA-4, and frizzled-9 receptor in human periodontal ligament mesenchymal stem cells.
SiRNA of frizzled-9 suppresses proliferation and motility of hepatoma cells.
Title: SiRNA of frizzled-9 suppresses proliferation and motility of hepatoma cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
The results suggest that WNT2 could act through its receptor FZD9 to regulate the beta-CATENIN pathway in cumulus cells, recruiting beta-CATENIN into plasma membranes and promoting the formation of adherens junctions involving CDH1.
Title: Identification of WNT/beta-CATENIN signaling pathway components in human cumulus cells.
Aberrant DNA methylation of frizzled 9 protein is associated with myelodysplastic syndrome progression to acute myeloid leukemia.
Title: Aberrant DNA methylation is a dominant mechanism in MDS progression to AML.
transfection of Fzd-9 into a Wnt-7a-insensitive NSCLC cell line established Wnt-7a sensitivity
Title: Restoration of Wnt-7a expression reverses non-small cell lung cancer cellular transformation through frizzled-9-mediated growth inhibition and promotion of cell differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Fzd10 (e-PCR), detects polymorphism
- UniSTS:516474

STS-U82169 (e-PCR)
- UniSTS:7560

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables Wnt receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables Wnt receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables Wnt-protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Wnt-protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in bone regeneration	ISS Inferred from Sequence or Structural Similarity more info
involved_in canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in learning or memory	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitochondrial depolarization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of necroptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of skeletal muscle acetylcholine-gated channel clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in non-canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ossification	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neural precursor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of postsynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in regulation of skeletal muscle acetylcholine-gated channel clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in release of cytochrome c from mitochondria	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in filopodium membrane	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: frizzled-9

Names: frizzled 9, seven transmembrane spanning receptor; frizzled family receptor 9; frizzled homolog 9; fz-9; fzE6; hFz9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012028.1 RefSeqGene

Range

5000..7342

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003508.3 → NP_003499.1 frizzled-9 precursor

See identical proteins and their annotated locations for NP_003499.1

Status: REVIEWED

Source sequence(s)

AC005049, U82169

Consensus CDS

CCDS5548.1

UniProtKB/Swiss-Prot

O00144

UniProtKB/TrEMBL

Q8TAN2

Related

ENSP00000345785.3, ENST00000344575.5

Conserved Domains (2) summary

cd15036
Location:221 → 542

7tmF_FZD9; class F frizzled subfamily 9, member of 7-transmembrane G protein-coupled receptors

cl02447
Location:35 → 161

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain