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FZD2 frizzled class receptor 2 [ Homo sapiens (human) ]

Gene ID: 2535, updated on 2-Nov-2024

Summary

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Official Symbol
FZD2provided by HGNC
Official Full Name
frizzled class receptor 2provided by HGNC
Primary source
HGNC:HGNC:4040
See related
Ensembl:ENSG00000180340 MIM:600667; AllianceGenome:HGNC:4040
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
Fz2; fz-2; fzE2; hFz2; OMOD2
Summary
This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]
Orthologs
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Genomic context

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See FZD2 in Genome Data Viewer
Location:
17q21.31
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44557484..44561262)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45411390..45415168)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42634852..42638630)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene G-patch domain containing 8 Neighboring gene RNA, 7SL, cytoplasmic 258, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42498551-42499524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8593 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:42588763-42589328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8594 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8595 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42610782-42611286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42611287-42611790 Neighboring gene uncharacterized LOC105371791 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42617132-42618126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42625431-42625978 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:42633347-42634116 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:42634117-42634884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42635102-42636062 Neighboring gene MPRA-validated peak2866 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:42664661-42665226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42675147-42675724 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42684805-42685416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8599 Neighboring gene long intergenic non-protein coding RNA 1180 Neighboring gene single-pass membrane protein with coiled-coil domains 4 pseudogene 1 Neighboring gene meiosis specific with coiled-coil domain

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A human homologue of the Drosophila polarity gene frizzled has been identified and mapped to 17q21.1. Zhao Z, et al. Genomics, 1995 May 20. PMID 7558010
  2. Suppression of hepatocellular carcinoma cell proliferation by short hairpin RNA of frizzled 2 with Sonazoid-enhanced irradiation. Tomizawa M, et al. Int J Oncol, 2016 Jan. PMID 26648389
  3. Frizzled2 signaling regulates growth of high-risk neuroblastomas by interfering with β-catenin-dependent and β-catenin-independent signaling pathways. Zins K, et al. Oncotarget, 2016 Jul 19. PMID 27323822, Free PMC Article
  4. Promotion of epithelial-mesenchymal transition by Frizzled2 is involved in the metastasis of endometrial cancer. Bian Y, et al. Oncol Rep, 2016 Aug. PMID 27373314
  5. A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. Saal HM, et al. Hum Mol Genet, 2015 Jun 15. PMID 25759469, Free PMC Article

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome.
    Title: Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome.
  2. Integrated weighted gene coexpression network analysis identifies Frizzled 2 (FZD2) as a key gene in invasive malignant pleomorphic adenoma.
    Title: Integrated weighted gene coexpression network analysis identifies Frizzled 2 (FZD2) as a key gene in invasive malignant pleomorphic adenoma.
  3. FZD2 acts as an oncogene in tongue cancer, promoting cell growth, invasion and migration.
    Title: FZD2 regulates cell proliferation and invasion in tongue squamous cell carcinoma.
  4. Fz2 and Wnt5a, might be involved in human Amyotrophic lateral sclerosis pathology.
    Title: Wnt Signaling Alterations in the Human Spinal Cord of Amyotrophic Lateral Sclerosis Cases: Spotlight on Fz2 and Wnt5a.
  5. FZD2 could promote clinically relevant EMT, CD44(+) stem-like properties, and the VM phenotype in HCC involving a potential Hippo signaling pathway-dependent mechanism, and should be considered as a promising therapeutic target for the treatment of HCC.
    Title: Frizzled 2-induced epithelial-mesenchymal transition correlates with vasculogenic mimicry, stemness, and Hippo signaling in hepatocellular carcinoma.
  6. The results indicate that OMOD2 or Robinow syndome-like phenotype can be caused by a heterozygous nonsense FZD2 mutation impairing Wnt signaling.
    Title: Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.
  7. Down-regulation of miR-30a-3p/5p promotes esophageal squamous cell carcinoma cell proliferation by activating the Wnt signaling pathway through inhibition of Wnt2 and Fzd2.
    Title: Down-regulation of miR-30a-3p/5p promotes esophageal squamous cell carcinoma cell proliferation by activating the Wnt signaling pathway.
  8. this study presents the crystal structure of a TcdB fragment in complex with the cysteine-rich domain of human FZD2 at 2.5-angstrom resolution, which reveals an endogenous FZD-bound fatty acid acting as a co-receptor for TcdB binding.
    Title: Structural basis for recognition of frizzled proteins by Clostridium difficile toxin B.
  9. our study suggests a role for FZD2 in high-risk neuroblastoma cell growth
    Title: Frizzled2 signaling regulates growth of high-risk neuroblastomas by interfering with β-catenin-dependent and β-catenin-independent signaling pathways.
  10. Treatment of the cell lines with Fzd2 siRNA resulted in significantly reduced migration and invasiveness but did not affect proliferation.Patients with high Fzd2 expression had significantly poorer recurrencefree survival than those with low expression
    Title: Clinical implication of Frizzled 2 expression and its association with epithelial-to-mesenchymal transition in hepatocellular carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (25)

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

Associated conditions

Description Tests
Autosomal dominant omodysplasia
MedGen: C2750355 OMIM: 164745 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables PDZ domain binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables Wnt receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Wnt receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables Wnt receptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables Wnt-protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Wnt-protein binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in Wnt signaling pathway, planar cell polarity pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell-cell signaling IEA
Inferred from Electronic Annotation
more info
  
involved_in cochlea morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in hard palate development IEA
Inferred from Electronic Annotation
more info
  
involved_in inner ear receptor cell development IEA
Inferred from Electronic Annotation
more info
  
involved_in membranous septum morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in muscular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in non-canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sensory perception of smell IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in focal adhesion HDA PubMed 
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 plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
frizzled-2
Names
frizzled 2, seven transmembrane spanning receptor
frizzled family receptor 2
frizzled homolog 2

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.

mRNA and Protein(s)

  1. NM_001466.4 → NP_001457.1  frizzled-2 precursor

    See identical proteins and their annotated locations for NP_001457.1

    Status: REVIEWED

    Source sequence(s)
    AC103703, AI376463, AW023425, BC052266
    Consensus CDS
    CCDS11484.1
    UniProtKB/Swiss-Prot
    Q0VG82, Q14332
    UniProtKB/TrEMBL
    Q86UZ8
    Related
    ENSP00000323901.3, ENST00000315323.5
    Conserved Domains (2) summary
    cd07464
    Location:35 → 161
    CRD_FZ2; Cysteine-rich Wnt-binding domain (CRD) of the frizzled 2 (Fz2) receptor
    cd15245
    Location:234 → 563
    7tmF_FZD2; class F frizzled subfamily 2, member of 7-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    44557484..44561262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    45411390..45415168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14332.1 GenPept UniProtKB/Swiss-Prot:Q14332

Gene LinkOut

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