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

Summary

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: mouse all
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Genomic context

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_000017.11 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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	Compare labs

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

D17S2172 (e-PCR)
- UniSTS:473925

PMC16008P1 (e-PCR)
- UniSTS:271446

RH66817 (e-PCR)
- UniSTS:31831

L18426 (e-PCR)
- UniSTS:34648

FZD2_3980 (e-PCR)
- UniSTS:462204

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 more info	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)

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