FZD5
entrez
7855
canonical
uniprot
Q13467
canonical
ensembl
ENSG00000163251
resolver
ensp
ENSP00000354607
resolver
ensp
ENSP00000578632
resolver
ensp
ENSP00000607433
resolver
ensp
ENSP00000607434
resolver
enst
ENST00000295417
resolver
enst
ENST00000908573
resolver
enst
ENST00000937374
resolver
enst
ENST00000937375
resolver
genesymbol
FZD5
resolver
genesymbol_syn
C2orf31
resolver
hgnc
HGNC:4043
resolver
uniprot
A8K2X1
resolver
uniprot
B2RCZ1
resolver
uniprot
Q53R22
resolver
uniprot_entry
FZD5_HUMAN
resolver
uniprot_sec
A8K2X1
resolver
uniprot_sec
B2RCZ1
resolver
uniprot_sec
Q53R22
resolver
amino_acid_sequence
MARPDPSAPPSLLLLLLAQLVGRAAAASKAPVCQEITVPMCRGIGYNLTHMPNQFNHDTQDEAGLEVHQFWPLVEIQCSPDLRFFLCSMYTPICLPDYHKPLPPCRSVCERAKAGCSPLMRQYGFAWPERMSCDRLPVLGRDAEVLCMDYNRSEATTAPPRPFPAKPTLPGPPGAPASGGECPAGGPFVCKCREPFVPILKESHPLYNKVRTGQVPNCAVPCYQPSFSADERTFATFWIGLWSVLCFISTSTTVATFLIDMERFRYPERPIIFLSACYLCVSLGFLVRLVVGHASVACSREHNHIHYETTGPALCTIVFLLVYFFGMASSIWWVILSLTWFLAAGMKWGNEAIAGYAQYFHLAAWLIPSVKSITALALSSVDGDPVAGICYVGNQNLNSLRGFVLGPLVLYLLVGTLFLLAGFVSLFRIRSVIKQGGTKTDKLEKLMIRIGIFTLLYTVPASIVVACYLYEQHYRESWEAALTCACPGHDTGQPRAKPEYWVLMLKYFMCLVVGITSGVWIWSGKTVESWRRFTSRCCCRPRRGHKSGGAMAAGDYPEASAALTGRTGPPGPAATYHKQVSLSHV
uniprot
proteins
disease_involvement
DISEASE: Microphthalmia/Coloboma 11 (MCOPCB11) [MIM:620731]: A form of colobomatous microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like coloboma, opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). MCOPCB11 is an autosomal dominant form with incomplete penetrance. {ECO:0000269|PubMed:26908622, ECO:0000269|PubMed:32737437, ECO:0000269|PubMed:33633439}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for Wnt proteins (PubMed:10097073, PubMed:20530549, PubMed:26908622, PubMed:9054360). Functions in the canonical Wnt/beta-catenin signaling pathway. In vitro activates WNT2, WNT10B, WNT5A, but not WNT2B or WNT4 signaling (By similarity). In neurons, activation by WNT7A promotes formation of synapses (PubMed:20530549). May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable). Plays a role in yolk sac angiogenesis and in placental vascularization (By similarity). Plays a role in ocular development (PubMed:26908622). {ECO:0000250|UniProtKB:Q9EQD0, ECO:0000269|PubMed:10097073, ECO:0000269|PubMed:20530549, ECO:0000269|PubMed:26908622, ECO:0000269|PubMed:9054360, ECO:0000305}.
uniprot
proteins
mass_dalton
64507
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by RNF43 and ZNRF3, leading to its degradation by the proteasome. {ECO:0000269|PubMed:22575959, ECO:0000269|PubMed:22895187}.
uniprot
proteins
protein_family
G protein-coupled receptor Fz/Smo family
uniprot
proteins
pubmed
10097073
uniprot
proteins
pubmed
11408929
uniprot
proteins
pubmed
12490564
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18230341
uniprot
proteins
pubmed
20530549
uniprot
proteins
pubmed
22575959
uniprot
proteins
pubmed
22895187
uniprot
proteins
pubmed
26908622
uniprot
proteins
pubmed
28377511
uniprot
proteins
pubmed
32737437
uniprot
proteins
pubmed
33633439
uniprot
proteins
pubmed
8626800
uniprot
proteins
pubmed
9054360
uniprot
proteins
pubmed
9707618
uniprot
proteins
sequence_length
585
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26908622}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8CHL0}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9EQD0}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9EQD0}. Synapse {ECO:0000250|UniProtKB:Q8CHL0}. Perikaryon {ECO:0000250|UniProtKB:Q8CHL0}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q8CHL0}. Cell projection, axon {ECO:0000250|UniProtKB:Q8CHL0}. Note=Localized at the plasma membrane and also found at the Golgi apparatus. {ECO:0000250|UniProtKB:Q9EQD0}.
uniprot
proteins
transmembrane_region
TRANSMEM 239..259; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 271..291; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 316..336; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 359..379; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 403..423; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 450..470; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 501..521; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins