InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FZD6

Summary

InnateDB Protein

IDBP-31671.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FZD6

Protein Name

frizzled family receptor 6

Synonyms

FZ-6; FZ6; HFZ6; NDNC10;

Species

Homo sapiens

Ensembl Protein

ENSP00000351605

InnateDB Gene

IDBG-31669 (FZD6)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Membrane; Multi-pass membrane protein. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.

Disease Associations

Nail disorder, non-syndromic congenital, 10 (NDNC10) [MIM:614157]: A nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development. {ECO:0000269PubMed:21665003}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Rare non-synonymous variants in FZD6 may contribute to neural tube defects, congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy.

Tissue Specificity

Detected in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, thymus, prostate, testis, ovary, small intestine and colon. In the fetus, expressed in brain, lung, liver and kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004888	transmembrane signaling receptor activity
GO:0004930	G-protein coupled receptor activity
GO:0005515	protein binding
GO:0017147	Wnt-protein binding
GO:0030165	PDZ domain binding
GO:0031625	ubiquitin protein ligase binding
GO:0042813	Wnt-activated receptor activity

Biological Process

GO:0001525	angiogenesis
GO:0001736	establishment of planar polarity
GO:0001843	neural tube closure
GO:0001942	hair follicle development
GO:0007166	cell surface receptor signaling pathway
GO:0007199	G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger
GO:0007409	axonogenesis
GO:0008406	gonad development
GO:0030168	platelet activation
GO:0030901	midbrain development
GO:0033278	cell proliferation in midbrain
GO:0035567	non-canonical Wnt signaling pathway
GO:0035880	embryonic nail plate morphogenesis
GO:0042472	inner ear morphogenesis
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0060071	Wnt signaling pathway, planar cell polarity pathway
GO:0090090	negative regulation of canonical Wnt signaling pathway

Cellular Component

GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016327	apicolateral plasma membrane
GO:0032589	neuron projection membrane
GO:0045177	apical part of cell