FZD2
entrez
2535
canonical
uniprot
Q14332
canonical
ensembl
ENSG00000180340
resolver
ensp
ENSP00000323901
resolver
enst
ENST00000315323
resolver
genesymbol
FZD2
resolver
hgnc
HGNC:4040
resolver
uniprot
Q0VG82
resolver
uniprot
Q86UZ8
resolver
uniprot_entry
FZD2_HUMAN
resolver
uniprot_entry
Q86UZ8_HUMAN
resolver
uniprot_sec
Q0VG82
resolver
amino_acid_sequence
MRPRSALPRLLLPLLLLPAAGPAQFHGEKGISIPDHGFCQPISIPLCTDIAYNQTIMPNLLGHTNQEDAGLEVHQFYPLVKVQCSPELRFFLCSMYAPVCTVLEQAIPPCRSICERARQGCEALMNKFGFQWPERLRCEHFPRHGAEQICVGQNHSEDGAPALLTTAPPPGLQPGAGGTPGGPGGGGAPPRYATLEHPFHCPRVLKVPSYLSYKFLGERDCAAPCEPARPDGSMFFSQEETRFARLWILTWSVLCCASTFFTVTTYLVDMQRFRYPERPIIFLSGCYTMVSVAYIAGFVLQERVVCNERFSEDGYRTVVQGTKKEGCTILFMMLYFFSMASSIWWVILSLTWFLAAGMKWGHEAIEANSQYFHLAAWAVPAVKTITILAMGQIDGDLLSGVCFVGLNSLDPLRGFVLAPLFVYLFIGTSFLLAGFVSLFRIRTIMKHDGTKTEKLERLMVRIGVFSVLYTVPATIVIACYFYEQAFREHWERSWVSQHCKSLAIPCPAHYTPRMSPDFTVYMIKYLMTLIVGITSGFWIWSGKTLHSWRKFYTRLTNSRHGETTV
uniprot
proteins
disease_involvement
DISEASE: Omodysplasia 2 (OMOD2) [MIM:164745]: A rare autosomal dominant skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies. {ECO:0000269|PubMed:25759469, ECO:0000269|PubMed:29230162, ECO:0000269|PubMed:29383834, ECO:0000269|PubMed:30455931}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in FZD2 have been found in patients with Robinow syndrome-like features including short-limb dwarfism, broad thumbs and craniofacial abnormalities. {ECO:0000269|PubMed:29276006}.
uniprot
proteins
function
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. {ECO:0000269|PubMed:25759469}.; 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). {ECO:0000269|PubMed:27680706, ECO:0000269|PubMed:29748286}.
uniprot
proteins
mass_dalton
63554
uniprot
proteins
mutagenesis
MUTAGEN 77; /note="Y->A: Strongly reduced interaction with C.difficile toxin TcdB."; /evidence="ECO:0000269|PubMed:29748286"; MUTAGEN 127; /note="K->A,E: Strongly reduced interaction with C.difficile toxin TcdB."; /evidence="ECO:0000269|PubMed:29748286
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by ZNRF3, leading to its degradation by the proteasome. {ECO:0000250}.
uniprot
proteins
protein_family
G protein-coupled receptor Fz/Smo family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
25759469
uniprot
proteins
pubmed
27680706
uniprot
proteins
pubmed
29230162
uniprot
proteins
pubmed
29276006
uniprot
proteins
pubmed
29383834
uniprot
proteins
pubmed
29748286
uniprot
proteins
pubmed
30455931
uniprot
proteins
pubmed
31233493
uniprot
proteins
pubmed
7558010
uniprot
proteins
pubmed
9707618
uniprot
proteins
pubmed
9813155
uniprot
proteins
sequence_length
565
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 248..268; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 280..300; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 328..348; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 371..391; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 415..435; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 462..482; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 520..540; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins