FZD6 (frizzled class receptor 6)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8323
Gene name Frizzled class receptor 6
Gene symbol FZD6
Synonyms (NCBI Gene)
FZ-6FZ6HFZ6NDNC1NDNC10
Chromosome 8
Chromosome location 8q22.3
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-t
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
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
miRNA miRNA information provided by mirtarbase database.
1149
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1149)
miRTarBase ID miRNA Experiments Reference
MIRT027324 hsa-miR-101-3p Sequencing 20371350
MIRT223696 hsa-miR-497-5p HITS-CLIP 23313552
MIRT223695 hsa-miR-424-5p HITS-CLIP 23313552
MIRT223682 hsa-miR-16-5p HITS-CLIP 23313552
MIRT223691 hsa-miR-15b-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (52)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 14747478
GO:0001540 Function Amyloid-beta binding NAS 18234671
GO:0001736 Process Establishment of planar polarity IEA
GO:0001843 Process Neural tube closure IEA
GO:0001942 Process Hair follicle development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603409 4044 ENSG00000164930
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 activat
PDB 8JH7 , 8JHB
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
Tissue specificity 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.
Sequence
Sequence length 706
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nail disease Pathogenic rs151339002, rs151339003 RCV000077802
RCV000077801
Nephroblastoma Pathogenic rs769116796 RCV000505681
Nonsyndromic congenital nail disorder 1 Pathogenic; Likely pathogenic rs151339002, rs151339003, rs766284226, rs1371244150, rs1815013208 RCV000023300
RCV000023301
RCV001027646
RCV001027648
RCV001283828
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs117477069 RCV005938773
Familial cancer of breast Likely benign rs117477069 RCV005938772
FZD6-related disorder Likely benign; Benign rs200403554, rs181084792, rs201910779, rs117477069, rs149396895, rs147804869, rs758708176 RCV003943907
RCV003959670
RCV003959801
RCV003931536
RCV003927242
RCV003957024
RCV003969578
Melanoma Likely benign rs117477069 RCV005938775
Show/Hide Text Mining Associations (28)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Stimulate 18414471
Breast Neoplasms Associate 27859262
Carcinogenesis Associate 18414471
Carcinoma Hepatocellular Associate 18577996
Colorectal Neoplasms Associate 25772759, 30833544
Dry Eye Syndromes Associate 19011014
Esophageal Squamous Cell Carcinoma Associate 32908901
Glioblastoma Associate 36932454
Glioma Associate 21205070
Leukemia Lymphoma Adult T Cell Stimulate 33630973