FZD6 frizzled class receptor 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FZD6provided by HGNC
Official Full Name: frizzled class receptor 6provided by HGNC
Primary source: HGNC:HGNC:4044
See related: Ensembl:ENSG00000164930 MIM:603409; AllianceGenome:HGNC:4044
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: FZ6; FZ-6; HFZ6; NDNC1; NDNC10
Summary: This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011]
Expression: Ubiquitous expression in thyroid (RPKM 15.4), lung (RPKM 14.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (103298494..103332866)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (104426440..104460824)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (104310722..104345094)

Chromosome 8 - NC_000008.11 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?

A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family.
Title: A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family.
FZD6 Promotes Melanoma Cell Invasion but Not Proliferation by Regulating Canonical Wnt Signaling and Epithelial-Mesenchymal Transition.
Title: FZD6 Promotes Melanoma Cell Invasion but Not Proliferation by Regulating Canonical Wnt Signaling and Epithelial‒Mesenchymal Transition.
FZD6 triggers Wnt-signalling driven by WNT10B(IVS1) expression and highlights new targets in T-cell acute lymphoblastic leukemia.
Title: FZD6 triggers Wnt-signalling driven by WNT10B(IVS1) expression and highlights new targets in T-cell acute lymphoblastic leukemia.
MiR-302b Suppresses Tumor Metastasis by Targeting Frizzled 6 in OSCC.
Title: MiR-302b Suppresses Tumor Metastasis by Targeting Frizzled 6 in OSCC.
The prognostic role of FZD6 in esophageal squamous cell carcinoma patients.
Title: The prognostic role of FZD6 in esophageal squamous cell carcinoma patients.
Mesenchymal stem cell-derived extracellular vesicles suppress the fibroblast proliferation by downregulating FZD6 expression in fibroblasts via micrRNA-29b-3p in idiopathic pulmonary fibrosis.
Title: Mesenchymal stem cell-derived extracellular vesicles suppress the fibroblast proliferation by downregulating FZD6 expression in fibroblasts via micrRNA-29b-3p in idiopathic pulmonary fibrosis.
Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.
Title: Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.
findings demonstrate that suppression of Wnt signaling by upregulation of FZD6 is a mechanism underlying luteolin-induced inhibition of prostate cancer stemness.
Title: Luteolin attenuates Wnt signaling via upregulation of FZD6 to suppress prostate cancer stemness revealed by comparative proteomics.
Mutations in FZD6 gene were found to be associated with autosomal recessive nail dysplasia.
Title: A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.
Given the key role of FZD6 in planar cell polarity, our results raise the possibility that asymmetric phosphorylation of FZD6 rather than asymmetric protein distribution accounts for polarized receptor signaling
Title: Dishevelled enables casein kinase 1-mediated phosphorylation of Frizzled 6 required for cell membrane localization.

Submit: New GeneRIF Correction See all GeneRIFs (34)

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
Nonsyndromic congenital nail disorder 1 MedGen: C0406443 OMIM: 161050 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of FZD6	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

NoName (e-PCR)
- UniSTS:482500

SHGC-33320 (e-PCR)
- UniSTS:76498

RH78755 (e-PCR)
- UniSTS:15071

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	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	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables Wnt-protein binding	NAS Non-traceable Author Statement more info	PubMed
NOT enables amyloid-beta binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 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 cell proliferation in midbrain	IEA Inferred from Electronic Annotation more info
involved_in embryonic nail plate morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in establishment of body hair planar orientation	IEA Inferred from Electronic Annotation more info
involved_in hair follicle development	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in midbrain morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube closure	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 non-canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet activation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apicolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity 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
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: frizzled-6

Names: frizzled 6, seven transmembrane spanning receptor; frizzled family receptor 6; frizzled homolog 6; seven transmembrane helix receptor

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_028909.2 RefSeqGene

Range

2905..36873

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001164615.2 → NP_001158087.1 frizzled-6 isoform a precursor

See identical proteins and their annotated locations for NP_001158087.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AC025370

Consensus CDS

CCDS6298.1

UniProtKB/Swiss-Prot

B4DRN0, O60353, Q6N0A5, Q6P9C3, Q8WXR9

UniProtKB/TrEMBL

B2R9H9

Related

ENSP00000429055.1, ENST00000522566.5

Conserved Domains (2) summary

cd07450
Location:20 → 146

CRD_FZ6; Cysteine-rich Wnt-binding domain (CRD) of the frizzled 6 (Fz6) receptor

pfam01534
Location:189 → 507

Frizzled; Frizzled/Smoothened family membrane region
NM_001164616.2 → NP_001158088.1 frizzled-6 isoform b

See identical proteins and their annotated locations for NP_001158088.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks a segment of the 5' UTR and 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AC025370

Consensus CDS

CCDS55268.1

UniProtKB/TrEMBL

B7ZB79

Related

ENSP00000429528.1, ENST00000523739.5

Conserved Domains (2) summary

cd07450
Location:1 → 114

CRD_FZ6; Cysteine-rich Wnt-binding domain (CRD) of the frizzled 6 (Fz6) receptor

pfam01534
Location:157 → 475

Frizzled; Frizzled/Smoothened family membrane region
NM_001317796.2 → NP_001304725.1 frizzled-6 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate translation start site and lacks an alternate exon in the 5' coding region compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus compared to isoform a. This isoform (c) lacks a predicted signal peptide compared to isoform a.

Source sequence(s)

AC025370

UniProtKB/TrEMBL

B4DL33

Conserved Domains (1) summary

pfam01534
Location:9 → 202

Frizzled; Frizzled/Smoothened family membrane region
NM_003506.4 → NP_003497.2 frizzled-6 isoform a precursor

See identical proteins and their annotated locations for NP_003497.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform.

Source sequence(s)

AC025370

Consensus CDS

CCDS6298.1

UniProtKB/Swiss-Prot

B4DRN0, O60353, Q6N0A5, Q6P9C3, Q8WXR9

UniProtKB/TrEMBL

B2R9H9

Related

ENSP00000351605.4, ENST00000358755.5

Conserved Domains (2) summary

cd07450
Location:20 → 146

CRD_FZ6; Cysteine-rich Wnt-binding domain (CRD) of the frizzled 6 (Fz6) receptor

pfam01534
Location:189 → 507

Frizzled; Frizzled/Smoothened family membrane region

RNA

NR_133921.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC025370

Related

ENST00000522484.5