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Aliases for FZD6 Gene

Aliases for FZD6 Gene

  • Frizzled Class Receptor 6 2 3 5
  • Frizzled 6, Seven Transmembrane Spanning Receptor 2 3
  • Frizzled Family Receptor 6 2 3
  • FZ-6 3 4
  • HFZ6 3 4
  • Seven Transmembrane Helix Receptor 3
  • Frizzled (Drosophila) Homolog 6 2
  • Frizzled Homolog 6 (Drosophila) 2
  • Frizzled Homolog 6 3
  • Frizzled-6 3
  • NDNC10 3
  • FZ6 3

External Ids for FZD6 Gene

Previous GeneCards Identifiers for FZD6 Gene

  • GC08P104379
  • GC08P103979
  • GC08P104267
  • GC08P099511

Summaries for FZD6 Gene

Entrez Gene Summary for FZD6 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]

GeneCards Summary for FZD6 Gene

FZD6 (Frizzled Class Receptor 6) is a Protein Coding gene. Diseases associated with FZD6 include Nail Disorder, Nonsyndromic Congenital, 10 and Nail Disease. Among its related pathways are PI3K-Akt signaling pathway and Gastric cancer. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and ubiquitin protein ligase binding. An important paralog of this gene is FZD3.

UniProtKB/Swiss-Prot for FZD6 Gene

  • 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).

Gene Wiki entry for FZD6 Gene

Additional gene information for FZD6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FZD6 Gene

Genomics for FZD6 Gene

GeneHancer (GH) Regulatory Elements for FZD6 Gene

Promoters and enhancers for FZD6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I103297 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 565.1 +0.7 668 2.6 SIN3A ZBTB7B BRCA1 ZNF48 SP3 MXD4 REST ZNF592 MXD3 SP7 FZD6 BAALC-AS1 LOC105369147 UBR5 CTHRC1 ENSG00000266289 DCAF13 GC08P103328
GH08I103020 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.9 -277.3 -277277 2.2 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ATP6V1C1 ENSG00000254236 UBR5 FZD6 KLF10 SLC25A32 AZIN1
GH08I102650 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 -643.3 -643267 9.3 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D KLF10 LOC101927245 UBR5 FZD6 LOC107986898 RNU6-1224P ATP6V1C1 AZIN1
GH08I103346 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 24.1 +50.3 50277 3.7 JUN HLF DACH1 ZIC2 JUND POLR2A SCRT2 GLIS1 FOS FZD6 CTHRC1 BAALC-AS1 RNU6-1011P LINC01181 DCAF13 ENSG00000266289 ATP6V1C1 AZIN1 SLC25A32
GH08I103413 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.1 +116.8 116763 3.2 CLOCK MLX ZFP64 DMAP1 YY1 E2F8 ZNF143 SP3 MEF2D ZNF610 DCAF13 SLC25A32 FZD6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FZD6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FZD6 gene promoter:

Genomic Locations for FZD6 Gene

Genomic Locations for FZD6 Gene
chr8:103,298,433-103,332,866
(GRCh38/hg38)
Size:
34,434 bases
Orientation:
Plus strand
chr8:104,310,661-104,345,094
(GRCh37/hg19)

Genomic View for FZD6 Gene

Genes around FZD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FZD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FZD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FZD6 Gene

Proteins for FZD6 Gene

  • Protein details for FZD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60353-FZD6_HUMAN
    Recommended name:
    Frizzled-6
    Protein Accession:
    O60353
    Secondary Accessions:
    • B4DRN0
    • Q6N0A5
    • Q6P9C3
    • Q8WXR9

    Protein attributes for FZD6 Gene

    Size:
    706 amino acids
    Molecular mass:
    79292 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FZD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FZD6 Gene

Post-translational modifications for FZD6 Gene

  • Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.
  • Glycosylation at isoforms=238, isoforms=2150, and isoforms=2352

No data available for DME Specific Peptides for FZD6 Gene

Domains & Families for FZD6 Gene

Gene Families for FZD6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for FZD6 Gene

Graphical View of Domain Structure for InterPro Entry

O60353

UniProtKB/Swiss-Prot:

FZD6_HUMAN :
  • Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.
  • Belongs to the G-protein coupled receptor Fz/Smo family.
Domain:
  • Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.
  • The FZ domain is involved in binding with Wnt ligands.
Family:
  • Belongs to the G-protein coupled receptor Fz/Smo family.
genes like me logo Genes that share domains with FZD6: view

Function for FZD6 Gene

Molecular function for FZD6 Gene

GENATLAS Biochemistry:
Drosophila frizzled polarity gene homolog,G protein coupled receptor superfamily,exhibiting characteristics of a WNT receptor,expressed in various normal adult and fetal tissues,involved in signal transduction,activating Dishevelled
UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for FZD6 Gene

Gene Ontology (GO) - Molecular Function for FZD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 NOT amyloid-beta binding NAS 18234671
GO:0004871 signal transducer activity IEA --
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity IBA --
GO:0005515 protein binding IPI 1927703
genes like me logo Genes that share ontologies with FZD6: view
genes like me logo Genes that share phenotypes with FZD6: view

Human Phenotype Ontology for FZD6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FZD6 Gene

MGI Knock Outs for FZD6:

Animal Model Products

miRNA for FZD6 Gene

miRTarBase miRNAs that target FZD6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FZD6 Gene

Localization for FZD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FZD6 Gene

Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cell surface. Apical cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Note=Colocalizes with FZD3 at the apical face of cells (By similarity). {ECO:0000250 UniProtKB:Q61089}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FZD6 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FZD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS 15265686
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with FZD6: view

Pathways & Interactions for FZD6 Gene

genes like me logo Genes that share pathways with FZD6: view

SIGNOR curated interactions for FZD6 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for FZD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0001942 hair follicle development IEA --
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with FZD6: view

Drugs & Compounds for FZD6 Gene

(4) Drugs for FZD6 Gene - From: DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Wnt-3a Pharma Agonist 0
Wnt-4 Pharma Agonist 0
Wnt-5a Pharma Agonist 0
genes like me logo Genes that share compounds with FZD6: view

Transcripts for FZD6 Gene

Unigene Clusters for FZD6 Gene

Frizzled family receptor 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FZD6 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1:
SP2: -
SP3: - -

Relevant External Links for FZD6 Gene

GeneLoc Exon Structure for
FZD6
ECgene alternative splicing isoforms for
FZD6

Expression for FZD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FZD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FZD6 Gene

This gene is overexpressed in Bone (16.6), Pancreas (11.0), Heart (10.8), Prostate (9.6), and Lung (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FZD6 Gene



NURSA nuclear receptor signaling pathways regulating expression of FZD6 Gene:

FZD6

SOURCE GeneReport for Unigene cluster for FZD6 Gene:

Hs.591863

mRNA Expression by UniProt/SwissProt for FZD6 Gene:

O60353-FZD6_HUMAN
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.

Evidence on tissue expression from TISSUES for FZD6 Gene

  • Lung(4.4)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FZD6 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • skin
genes like me logo Genes that share expression patterns with FZD6: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for FZD6 Gene

Orthologs for FZD6 Gene

This gene was present in the common ancestor of animals.

Orthologs for FZD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FZD6 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia FZD6 33 34
  • 91.22 (n)
cow
(Bos Taurus)
Mammalia FZD6 33 34
  • 90.56 (n)
rat
(Rattus norvegicus)
Mammalia Fzd6 33
  • 84.37 (n)
mouse
(Mus musculus)
Mammalia Fzd6 33 16 34
  • 83.4 (n)
oppossum
(Monodelphis domestica)
Mammalia FZD6 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FZD6 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves FZD6 33 34
  • 74.05 (n)
lizard
(Anolis carolinensis)
Reptilia FZD6 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fzd6 33
  • 69.36 (n)
zebrafish
(Danio rerio)
Actinopterygii fzd6 33 34
  • 54.91 (n)
zgc65879 33
fruit fly
(Drosophila melanogaster)
Insecta fz 34
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4359 34
  • 32 (a)
OneToMany
Species where no ortholog for FZD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FZD6 Gene

ENSEMBL:
Gene Tree for FZD6 (if available)
TreeFam:
Gene Tree for FZD6 (if available)

Paralogs for FZD6 Gene

Paralogs for FZD6 Gene

(11) SIMAP similar genes for FZD6 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with FZD6: view

Variants for FZD6 Gene

Sequence variations from dbSNP and Humsavar for FZD6 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs151339002 pathogenic, Nail disorder, nonsyndromic congenital, 10, Nail disease 103,329,863(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs151339003 pathogenic, Nail disorder, nonsyndromic congenital, 10, Nail disease, Nail disorder, non-syndromic congenital, 10 (NDNC10) [MIM:614157] 103,328,406(+) C/T coding_sequence_variant, intron_variant, missense_variant
rs769116796 other 103,318,758(+) C/T coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained
rs786205672 likely-pathogenic, Non-immune hydrops fetalis 103,324,975(+) A/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000011379 -- 103,302,443(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FZD6 Gene

Variant ID Type Subtype PubMed ID
nsv1017326 CNV gain 25217958
nsv523544 CNV loss 19592680
nsv527031 CNV loss 19592680

Variation tolerance for FZD6 Gene

Residual Variation Intolerance Score: 20.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.89; 96.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FZD6 Gene

Human Gene Mutation Database (HGMD)
FZD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FZD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FZD6 Gene

Disorders for FZD6 Gene

MalaCards: The human disease database

(6) MalaCards diseases for FZD6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nail disorder, nonsyndromic congenital, 10
  • ndnc10
nail disease
  • abnormality of the nail
nail disorder, nonsyndromic congenital, 1
  • ndnc1
exudative vitreoretinopathy
  • exudative vitreoretinopathy 1
neural tube defects
  • neural tube defects, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search FZD6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FZD6_HUMAN
  • 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:0000269 PubMed: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.

Additional Disease Information for FZD6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FZD6: view

No data available for Genatlas for FZD6 Gene

Publications for FZD6 Gene

  1. Molecular cloning of human Frizzled-6. (PMID: 9480858) Tokuhara M … Katoh M (Biochemical and biophysical research communications 1998) 2 3 4 22 58
  2. ZNRF3 promotes Wnt receptor turnover in an R-spondin-sensitive manner. (PMID: 22575959) Hao HX … Cong F (Nature 2012) 3 4 58
  3. FZD6 is a novel gene for human neural tube defects. (PMID: 22045688) De Marco P … Capra V (Human mutation 2012) 3 4 58
  4. Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. (PMID: 21665003) Fröjmark AS … Dahl N (American journal of human genetics 2011) 3 4 58
  5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 44 58

Products for FZD6 Gene

Sources for FZD6 Gene

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