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 name Gene Name - the full gene name approved by the HGNC.
Frizzled class receptor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FZD6
Synonyms (NCBI Gene) Gene synonyms aliases
FZ-6, FZ6, HFZ6, NDNC1, NDNC10
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.3
Summary Summary 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-t
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 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
603409 4044 ENSG00000164930
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 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nonsyndromic congenital nail disorder Nonsyndromic congenital nail disorder 1 rs766284226, rs1371244150, rs151339002, rs151339003 N/A
Nephroblastoma nephroblastoma rs769116796 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Nail Dysplasia autosomal recessive nail dysplasia N/A N/A GenCC
Nonimmune Hydrops Fetalis non-immune hydrops fetalis N/A N/A ClinVar
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease 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