Reactome | UniProt:Q14332 FZD2

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UniProt:Q14332 FZD2 Show undefined attributes

chain	signal peptide:1-23 chain:24-565
checksum	AA387876A1DDE063
comment	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 activation of Wnt target genes (PubMed:25759469). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.FUNCTION (Microbial infection) Acts as a receptor for C.difficile toxin TcdB in the colonic epithelium (PubMed:27680706, PubMed:29748286). TcdB occupies the binding site for Wnt-adducted palmitoleate in frizzled receptors and TcdB-binding prevents Wnt-binding and downstream Wnt signaling (PubMed:29748286).SUBUNIT (Microbial infection) Interacts with C.difficile toxin TcdB; frizzled receptors constitute the major host receptors for TcdB in the colonic epithelium.INTERACTION 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.DOMAIN Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.DOMAIN The FZ domain is involved in binding with Wnt ligands.PTM Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Defects in FZD2 have been found in patients with Robinow syndrome-like features including short-limb dwarfism, broad thumbs and craniofacial abnormalities.SIMILARITY Belongs to the G-protein coupled receptor Fz/Smo family.
crossReference	[DatabaseIdentifier:10974773] Pharos - Targets:Q14332 [DatabaseIdentifier:10982607] Guide to Pharmacology - Targets:230 [DatabaseIdentifier:11059954] OpenTargets:ENSG00000180340 [DatabaseIdentifier:11607636] RefSeq:NP_001457.1 [DatabaseIdentifier:11729447] PDB:6C0B [DatabaseIdentifier:11729456] PDB:7N95 [DatabaseIdentifier:11729458] PDB:7N97 [DatabaseIdentifier:11729469] PDB:7N9S [DatabaseIdentifier:11729471] PDB:7X8P [DatabaseIdentifier:11815243] PRO:Q14332 [DatabaseIdentifier:11847638] GeneCards:Q14332 [DatabaseIdentifier:11882562] Orphanet:23281 [DatabaseIdentifier:11890270] HMDB Protein:HMDBP07698 [DatabaseIdentifier:11896962] HPA:ENSG00000180340-FZD2 [DatabaseIdentifier:12079774] Ensembl:ENSP00000323901 [DatabaseIdentifier:12079775] Ensembl:ENSG00000180340 [DatabaseIdentifier:12079776] Ensembl:ENST00000315323
databaseName	UniProt
dbId	55168
description	recommendedName: Frizzled-2 shortName: Fz-2 shortName: hFz2 alternativeName: FzE2
displayName	UniProt:Q14332 FZD2
geneName	FZD2
identifier	Q14332
isSequenceChanged	false
keyword	3D-structure Cell membrane Developmental protein Disease variant Disulfide bond G-protein coupled receptor Glycoprotein Membrane Receptor Reference proteome Signal Transducer Transmembrane Transmembrane helix Ubl conjugation Wnt signaling pathway
modified	[InstanceEdit:12187927] Wright, Adam, 2024-03-12
name	FZD2
otherIdentifier	11727552_at 16834785 210220_PM_at 210220_at 238129_PM_s_at 238129_s_at 2535 36799_at 3723009 3723010 3723011 3723012 3723013 3723014 3723015 3723016 3723017 3723018 46871_r_at 61063_at 628_at 8007637 A_14_P126073 A_23_P141362 GE58254 GO:0003149 GO:0003150 GO:0003151 GO:0004888 GO:0004930 GO:0005515 GO:0005737 GO:0005886 GO:0005925 GO:0006351 GO:0006355 GO:0007165 GO:0007166 GO:0007186 GO:0007267 GO:0007608 GO:0016020 GO:0016055 GO:0017147 GO:0023052 GO:0030154 GO:0030165 GO:0030182 GO:0030669 GO:0031410 GO:0035567 GO:0042813 GO:0043226 GO:0045446 GO:0045893 GO:0048856 GO:0050877 GO:0051091 GO:0060022 GO:0060070 GO:0060071 GO:0060089 GO:0060119 GO:0060412 GO:0090103 GO:0090179 HMNXSV003007369 Hs.142912.0.A1_3p_at ILMN_1653711 L37882_at PH_hs_0031791 TC17000571.hg g736678_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-5140723] FZD2 [clathrin-coated endocytic vesicle membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-443945] FZD2 [plasma membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8962547] ENSEMBL:ENSG00000180340 FZD2 [ReferenceDNASequence:11027681] KEGG Gene (Homo sapiens):2535 FZD2 [ReferenceDNASequence:11258096] NCBI Gene:2535 FZD2 [ReferenceDNASequence:11258097] BioGPS Gene:2535 FZD2 [ReferenceDNASequence:11258098] CTD Gene:2535 FZD2 [ReferenceDNASequence:11258099] dbSNP Gene:2535 FZD2 [ReferenceDNASequence:11258100] Monarch:2535 FZD2 [ReferenceDNASequence:11343471] ENSEMBL_homo_sapiens_GENE:ENSG00000180340.7 FZD2 [ReferenceDNASequence:11516131] UCSC:Q14332 FZD2 [ReferenceDNASequence:11798895] OMIM:600667 FZD2 [ReferenceDNASequence:11874998] HGNC:4040 FZD2 [ReferenceDNASequence:12194917] COSMIC (genes):FZD2 FZD2
referenceTranscript	[ReferenceRNASequence:11438373] RefSeq:NM_001466.3 FZD2
schemaClass	ReferenceGeneProduct
secondaryIdentifier	FZD2_HUMAN Q0VG82
sequenceLength	565
species	[Species:48887] Homo sapiens
url	https://purl.uniprot.org/uniprot/Q14332

Referrals

(interactor)	[UndirectedInteraction:12227181] UniProt:P39688 <-> UniProt:Q14332 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-5140723] FZD2 [clathrin-coated endocytic vesicle membrane] [EntityWithAccessionedSequence:R-HSA-443945] FZD2 [plasma membrane]