Gene Gene information from NCBI Gene database.
Entrez ID 2535
Gene name Frizzled class receptor 2
Gene symbol FZD2
Synonyms (NCBI Gene)
Fz2OMOD2fz-2fzE2hFz2
Chromosome 17
Chromosome location 17q21.31
Summary This intronless 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. This gene encodes a protein that i
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs1223920489 G>A Likely-pathogenic Coding sequence variant, missense variant
rs1555657045 G>A Likely-pathogenic Stop gained, coding sequence variant
rs1555657073 G>T Likely-pathogenic Coding sequence variant, missense variant
rs1555657074 GC>TT Likely-pathogenic Coding sequence variant, missense variant
rs1568105562 T>G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
522
miRTarBase ID miRNA Experiments Reference
MIRT718685 hsa-miR-130b-5p HITS-CLIP 19536157
MIRT718684 hsa-miR-6721-5p HITS-CLIP 19536157
MIRT718683 hsa-miR-2117 HITS-CLIP 19536157
MIRT718682 hsa-miR-4425 HITS-CLIP 19536157
MIRT718681 hsa-miR-3147 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0003149 Process Membranous septum morphogenesis IEA
GO:0003150 Process Muscular septum morphogenesis IEA
GO:0003151 Process Outflow tract morphogenesis IEA
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600667 4040 ENSG00000180340
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14332
Protein name Frizzled-2 (Fz-2) (hFz2) (FzE2)
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 6C0B , 7N95 , 7N97 , 7N9S , 7X8P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01392 Fz 39 146 Fz domain Domain
PF01534 Frizzled 235 555 Frizzled/Smoothened family membrane region Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. In the adult, mainly found in heart, placenta, skeletal muscle, lung, kidney, pancreas, prostate, testis, ovary and colon. In the fetus, expressed in brain, lung and kidney. Low levels in fetal liver.
Sequence
Sequence length 565
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Asymmetric localization of PCP proteins
Disassembly of the destruction complex and recruitment of AXIN to the membrane
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant omodysplasia Likely pathogenic; Pathogenic rs1555657073, rs1568105666 RCV004698842
RCV000754771
Autosomal dominant Robinow syndrome 1 Likely pathogenic; Pathogenic rs1223920489, rs1568105666, rs2144572390 RCV001353073
RCV001353074
RCV001353075
Autosomal dominant Robinow syndrome 2 Likely pathogenic; Pathogenic rs1223920489, rs1555657074, rs1568105666 RCV000577904
RCV000577879
RCV000989930
Autosomal dominant Robinow syndrome 3 Likely pathogenic; Pathogenic rs1555657073 RCV000577887
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FZD2-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs141791958, rs577012342, rs373390114, rs764411531, rs1430553474, rs2544584399, rs2544583916, rs1057399025, rs1970847214, rs2544583910, rs1970849186, rs138090948, rs150027138, rs143455997 RCV003951072
RCV003933456
RCV003933356
RCV003953924
RCV003412483
RCV003400072
RCV003979391
RCV003973964
RCV003933969
RCV003979106
RCV003976495
RCV003903306
RCV003926209
RCV003920646
Keratoconus Benign; Likely benign rs758351214 RCV000678664
See cases Uncertain significance rs2144572308 RCV002253148
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 30841855
Adenoma Pleomorphic Associate 34986855
Amyotrophic Lateral Sclerosis Associate 30924074
Anodontia Associate 32141827
Arthritis Psoriatic Associate 20376066
Arthritis Rheumatoid Associate 10688908
Breast Neoplasms Associate 31907106
Carcinoma Hepatocellular Associate 32755597
Carcinoma Renal Cell Associate 33804101
Carcinoma Squamous Cell Associate 33485313