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FZD6 (frizzled class receptor 6)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8323
Gene nameGene Name - the full gene name approved by the HGNC.
Frizzled class receptor 6
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FZD6
SynonymsGene synonyms aliases
FZ-6, FZ6, HFZ6, NDNC1, NDNC10
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.3
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs151339002 G>A,T Pathogenic Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs151339003 C>T Pathogenic Coding sequence variant, missense variant, intron variant
rs766284226 C>G,T Pathogenic Intron variant, missense variant, coding sequence variant, stop gained
rs769116796 C>T Pathogenic, other Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs786205672 A>G Likely-pathogenic Intron variant, non coding transcript variant, coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT027324 hsa-miR-101-3p Sequencing, PAR-CLIP 20371350
MIRT027324 hsa-miR-101-3p PAR-CLIP 23592263
MIRT027324 hsa-miR-101-3p PAR-CLIP 24398324
MIRT027324 hsa-miR-101-3p PAR-CLIP 21572407
MIRT027324 hsa-miR-101-3p PAR-CLIP 27292025
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding NAS 18234671
GO:0001843 Process Neural tube closure IEA
GO:0001942 Process Hair follicle development IEA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005515 Function Protein binding IPI 1927703, 10347172, 22575959, 30833544
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O60353
Protein name Frizzled-6 (Fz-6) (hFz6)
Protein function Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which 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. Together with FZD3, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01392 Fz
24 → 131
Fz domain
 Domain
PF01534 Frizzled
189 → 510
Frizzled/Smoothened family membrane region
 Family
Sequence
Sequence length 706
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  mTOR signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer 		  Ca2+ pathway
PCP/CE pathway
Regulation of FZD by ubiquitination
RNF mutants show enhanced WNT signaling and proliferation
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Disease name Disease term References
Hydrops Fetalis, Non-Immune
Hypertrophy of nail
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
Autosomal recessive nail dysplasia
Onycholysis

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