Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2535
Gene name Gene Name - the full gene name approved by the HGNC.
Frizzled class receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FZD2
Synonyms (NCBI Gene) Gene synonyms aliases
Fz2, OMOD2, fz-2, fzE2, hFz2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
OMOD2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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:0004930 Function G protein-coupled receptor activity IEA
GO:0005515 Function Protein binding IPI 25417160, 27680706, 29748286
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600667 4040 ENSG00000180340
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 21188121
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Specific learning disorder Specific learning disability ClinVar
Robinow Syndrome autosomal dominant Robinow syndrome GenCC
Associations from Text Mining
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