FZD8

frizzled class receptor 8, the group of G protein-coupled receptors, Class F frizzled|MicroRNA protein coding host genes

Basic information

Region (hg38): 10:35638246-35642296

Links

ENSG00000177283 ∙ NCBI:8325 ∙ OMIM:606146 ∙ HGNC:4046 ∙ Uniprot:Q9H461 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FZD8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FZD8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			39	1		40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	3	0

Variants in FZD8

This is a list of pathogenic ClinVar variants found in the FZD8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-35639391-G-C		not specified	Uncertain significance (Apr 12, 2022)
10-35639394-G-A		not specified	Uncertain significance (Nov 04, 2022)
10-35639466-C-A		not specified	Uncertain significance (Oct 06, 2023)
10-35639485-C-G		not specified	Uncertain significance (Apr 07, 2023)
10-35639493-C-T		not specified	Likely benign (Mar 11, 2022)
10-35639524-T-C		not specified	Uncertain significance (Sep 27, 2022)
10-35639539-C-T		not specified	Uncertain significance (Feb 09, 2023)
10-35639544-A-C		not specified	Uncertain significance (Sep 12, 2023)
10-35639547-G-A		not specified	Uncertain significance (May 24, 2024)
10-35639705-G-A			Likely benign (Oct 01, 2022)
10-35639708-C-A		not specified	Uncertain significance (Jun 30, 2022)
10-35639751-C-T		not specified	Uncertain significance (Dec 21, 2021)
10-35639925-G-A		not specified	Uncertain significance (Dec 03, 2021)
10-35639936-C-T		not specified	Uncertain significance (Apr 09, 2024)
10-35639991-T-C		not specified	Uncertain significance (Mar 19, 2024)
10-35640132-G-A		not specified	Uncertain significance (Sep 29, 2022)
10-35640202-T-C		not specified	Uncertain significance (Mar 01, 2024)
10-35640220-A-T		not specified	Uncertain significance (Aug 10, 2021)
10-35640322-G-C		not specified	Uncertain significance (Nov 06, 2023)
10-35640330-G-A		not specified	Uncertain significance (Jun 05, 2023)
10-35640337-C-G		not specified	Uncertain significance (Nov 30, 2022)
10-35640342-G-A		not specified	Uncertain significance (Sep 28, 2022)
10-35640342-G-C		not specified	Uncertain significance (Nov 30, 2022)
10-35640613-C-T		not specified	Uncertain significance (Nov 30, 2022)
10-35640637-G-A		not specified	Uncertain significance (Jan 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FZD8	protein_coding	protein_coding	ENST00000374694	1	3186

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.790	0.210	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.17	189	357	0.529	0.0000168	4370
Missense in Polyphen		42	132.7	0.31649		1503
Synonymous	-3.55	221	163	1.35	0.00000825	1513
Loss of Function	3.32	3	18.3	0.164	7.91e-7	185

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for Wnt proteins. Component of the Wnt-Fzd- LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome- sized signalosomes. The beta-catenin canonical signaling pathway leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Coreceptor along with RYK of Wnt proteins, such as WNT1. {ECO:0000269|PubMed:11448771}.
• Pathway: Gastric cancer - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Breast cancer - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Basal cell carcinoma - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);Melanogenesis - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);WNT-Core;Mesodermal Commitment Pathway;Ectoderm Differentiation;Regulation of Wnt-B-catenin Signaling by Small Molecule Compounds;Association Between Physico-Chemical Features and Toxicity Associated Pathways;ESC Pluripotency Pathways;Wnt Signaling Pathway and Pluripotency;Wnt Signaling in Kidney Disease;EMT transition in Colorectal Cancer;Wnt Signaling Pathway;Signaling by GPCR;Signaling by WNT;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Regulation of FZD by ubiquitination;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Asymmetric localization of PCP proteins;PCP/CE pathway;Beta-catenin independent WNT signaling;GPCR signaling-G alpha i;Wnt;Wnt Canonical;Wnt signaling network;TCF dependent signaling in response to WNT;Wnt Mammals (Consensus)

Recessive Scores

• pRec: 0.221

Intolerance Scores

• loftool: 0.120
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.4

Haploinsufficiency Scores

• pHI: 0.274
• ghis: 0.604

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.938

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fzd8
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; renal/urinary system phenotype

Zebrafish Information Network

• Gene name: fzd8a
• Affected structure: ceratobranchial cartilage
• Phenotype tag: abnormal
• Phenotype quality: malformed

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;angiogenesis;G protein-coupled receptor signaling pathway;neuron differentiation;T cell differentiation in thymus;non-canonical Wnt signaling pathway;positive regulation of JUN kinase activity;positive regulation of transcription by RNA polymerase II;canonical Wnt signaling pathway
• Cellular component: Golgi apparatus;plasma membrane;integral component of membrane;Wnt-Frizzled-LRP5/6 complex
• Molecular function: G protein-coupled receptor activity;signaling receptor binding;protein binding;Wnt-protein binding;PDZ domain binding;ubiquitin protein ligase binding;Wnt-activated receptor activity