Gene Gene information from NCBI Gene database.
Entrez ID 7976
Gene name Frizzled class receptor 3
Gene symbol FZD3
Synonyms (NCBI Gene)
Fz-3
Chromosome 8
Chromosome location 8p21.1
Summary This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the be
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1563406024 ->A Likely-pathogenic Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
950
miRTarBase ID miRNA Experiments Reference
MIRT004984 hsa-miR-31-5p Luciferase reporter assayqRT-PCRWestern blot 19524507
MIRT004984 hsa-miR-31-5p Luciferase reporter assayqRT-PCRWestern blot 19524507
MIRT027778 hsa-miR-98-5p Microarray 19088304
MIRT732940 hsa-miR-340-5p Luciferase reporter assayqRT-PCRWestern blotting 33609235
MIRT732957 hsa-miR-224-5p qRT-PCR 31434359
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0001736 Process Establishment of planar polarity IEA
GO:0001843 Process Neural tube closure IEA
GO:0001942 Process Hair follicle development IEA
GO:0002052 Process Positive regulation of neuroblast proliferation IEA
GO:0002052 Process Positive regulation of neuroblast proliferation ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606143 4041 ENSG00000104290
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPG1
Protein name Frizzled-3 (Fz-3) (hFz3)
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 8JHC , 8JHI , 8Q7O , 8QW4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01392 Fz 28 135 Fz domain Domain
PF01534 Frizzled 193 514 Frizzled/Smoothened family membrane region Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Relatively high expression in the CNS, including regions of the limbic system, in kidney, pancreas, skeletal muscle, uterus and testis.
Sequence
Sequence length 666
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway
Wnt signaling pathway
Axon guidance
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
MicroRNAs in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  Ca2+ pathway
PCP/CE pathway
Asymmetric localization of PCP proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arthrogryposis multiplex congenita Likely pathogenic rs1563406024 RCV000779663
Colorectal cancer Pathogenic rs765036679 RCV001293829
Congenital cerebellar hypoplasia Likely pathogenic rs1563406024 RCV001257989
Corpus callosum, agenesis of Likely pathogenic rs1563406024 RCV000779663
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 30841855
Adenoma Stimulate 18414471
Adenoma Associate 24255701
Adenomatous Polyposis Coli Associate 20628379
Alzheimer Disease Associate 32966694
Amyotrophic Lateral Sclerosis Associate 30924074
Barrett Esophagus Associate 30841855
Bipolar Disorder Associate 31695175
Carcinogenesis Associate 30792348
Carcinoma Hepatocellular Associate 18577996, 24255701