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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 Show/Hide all (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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
mTOR signaling pathway Ca2+ pathway
Wnt signaling pathway Asymmetric localization of PCP proteins
Hippo signaling pathway Disassembly of the destruction complex and recruitment of AXIN to the membrane
Signaling pathways regulating pluripotency of stem cells WNT5A-dependent internalization of FZD2, FZD5 and ROR2
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant omodysplasia Likely pathogenic; Pathogenic rs1555657073, rs1568105666 RCV004698842
RCV000754771
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant Robinow syndrome 1 Likely pathogenic; Pathogenic rs1223920489, rs1568105666, rs2144572390 RCV001353073
RCV001353074
RCV001353075
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant Robinow syndrome 2 Likely pathogenic; Pathogenic rs1223920489, rs1555657074, rs1568105666 RCV000577904
RCV000577879
RCV000989930
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant Robinow syndrome 3 Likely pathogenic; Pathogenic rs1555657073 RCV000577887
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature Likely pathogenic rs1568105562 RCV000736149
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
AUTOSOMAL DOMINANT ROBINOW SYNDROME — Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
29276006, 29276006
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS — CTD 21188121
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FZD2-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Keratoconus Benign; Likely benign ClinVar
Disgenet
—
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (110)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 25695658
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 11836553
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 23826406
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 30924074 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 32141827 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 20376066 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 10688908 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autosomal dominant omodysplasia Omodysplasia Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)