FZD4 frizzled class receptor 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FZD4provided by HGNC
Official Full Name: frizzled class receptor 4provided by HGNC
Primary source: HGNC:HGNC:4042
See related: Ensembl:ENSG00000174804 MIM:604579; AllianceGenome:HGNC:4042
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: Fz4; EVR1; FEVR; Fz-4; FzE4; GPCR; hFz4; CD344; FZD4S
Summary: This 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. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]
Expression: Broad expression in fat (RPKM 98.6), kidney (RPKM 18.6) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q14.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (86945679..86955395, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (86886525..86896237, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (86656721..86666437, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.
Title: Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.
Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/beta-Catenin Pathway Activation.
Title: Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.
A regulatory circuit of lncRNA NLGN1-AS1 and Wnt signalling controls clear cell renal cell carcinoma phenotypes through FZD4-modulated pathways.
Title: A regulatory circuit of lncRNA NLGN1-AS1 and Wnt signalling controls clear cell renal cell carcinoma phenotypes through FZD4-modulated pathways.
Long non coding RNA, C8orf49, a novel diagnostic and prognostic biomarker, enhances PTEN/FZD4-mediated cell growth and metastasis by sponging miR-1323 in endometriosis.
Title: Long non coding RNA, C8orf49, a novel diagnostic and prognostic biomarker, enhances PTEN/FZD4-mediated cell growth and metastasis by sponging miR-1323 in endometriosis.
Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
Title: Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
Circ_0001955 Acts as a miR-646 Sponge to Promote the Proliferation, Metastasis and Angiogenesis of Hepatocellular Carcinoma.
Title: Circ_0001955 Acts as a miR-646 Sponge to Promote the Proliferation, Metastasis and Angiogenesis of Hepatocellular Carcinoma.
Circ_0088036 facilitates the proliferation and inflammation and inhibits the apoptosis of fibroblast-like synoviocytes through targeting miR-326/FZD4 axis in rheumatoid arthritis.
Title: Circ_0088036 facilitates the proliferation and inflammation and inhibits the apoptosis of fibroblast-like synoviocytes through targeting miR-326/FZD4 axis in rheumatoid arthritis.
FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.
Title: FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.
Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy.
Title: Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy.
Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.
Title: Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.

Submit: New GeneRIF Correction See all GeneRIFs (80)

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
Exudative vitreoretinopathy 1 MedGen: C1851402 OMIM: 133780 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-25) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-01-25) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of frizzled family receptor 4 (FZD4) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48350 (e-PCR)
- UniSTS:18202

FZD4 (e-PCR)
- UniSTS:279366

L18426 (e-PCR)
- UniSTS:34648

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

D11S896 (e-PCR), detects polymorphism
- UniSTS:18829

D11S3114 (e-PCR)
- UniSTS:152207

RH91382 (e-PCR)
- UniSTS:83629

G20766 (e-PCR)
- UniSTS:43186

A006F30 (e-PCR)
- UniSTS:43187

FZD4_7916 (e-PCR)
- UniSTS:468430

STS-R26141 (e-PCR)
- UniSTS:53456

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	IDA Inferred from Direct Assay more info	PubMed
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-protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Wnt-protein binding	TAS Traceable Author Statement more info	PubMed
enables amyloid-beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytokine binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytokine receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables 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
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin protein ligase 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 Norrin signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in Wnt signaling pathway, calcium modulating pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
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 canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in cellular response to retinoic acid	ISS Inferred from Sequence or Structural Similarity more info
involved_in cerebellum vasculature morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in endothelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in establishment of blood-brain barrier	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix-cell signaling	IEA Inferred from Electronic Annotation more info
involved_in locomotion involved in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell-substrate adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
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 non-canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
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 positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dendrite morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron projection arborization	ISS Inferred from Sequence or Structural Similarity more info
involved_in progesterone secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of vascular endothelial growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in retina vasculature morphogenesis in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
involved_in retina vasculature morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinal blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation more info
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in glutamatergic synapse	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	IC Inferred by Curator more info	PubMed
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-4

Names: WNT receptor frizzled-4; frizzled 4, seven transmembrane spanning receptor; frizzled family receptor 4; frizzled homolog 4

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_011752.2 RefSeqGene

Range

5000..14716

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_012193.4 → NP_036325.2 frizzled-4 precursor

See identical proteins and their annotated locations for NP_036325.2

Status: REVIEWED

Source sequence(s)

AP001528

Consensus CDS

CCDS8279.1

UniProtKB/Swiss-Prot

A8K9Q3, Q14C97, Q6S9E4, Q9ULV1

UniProtKB/TrEMBL

Q8TDT8

Related

ENSP00000434034.1, ENST00000531380.2

Conserved Domains (2) summary

cd07448
Location:42 → 167

CRD_FZ4; Cysteine-rich Wnt-binding domain of the frizzled 4 (Fz4) receptor

cd15038
Location:209 → 509

7tmF_FZD4; class F frizzled subfamily 4, member of 7-transmembrane G protein-coupled receptors