NDP
entrez
4693
canonical
uniprot
Q00604
canonical
ensembl
ENSG00000124479
resolver
ensp
ENSP00000495811
resolver
ensp
ENSP00000495972
resolver
ensp
ENSP00000538586
resolver
ensp
ENSP00000538587
resolver
enst
ENST00000642620
resolver
enst
ENST00000647044
resolver
enst
ENST00000868527
resolver
enst
ENST00000868528
resolver
genesymbol
NDP
resolver
genesymbol_syn
EVR2
resolver
hgnc
HGNC:7678
resolver
uniprot
B2R8K6
resolver
uniprot
Q5JYH5
resolver
uniprot_entry
NDP_HUMAN
resolver
uniprot_sec
B2R8K6
resolver
uniprot_sec
Q5JYH5
resolver
amino_acid_sequence
MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECNS
uniprot
proteins
disease_involvement
DISEASE: Norrie disease (ND) [MIM:310600]: Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure. {ECO:0000269|PubMed:10484772, ECO:0000269|PubMed:10544980, ECO:0000269|PubMed:11337749, ECO:0000269|PubMed:1303264, ECO:0000269|PubMed:1307245, ECO:0000269|PubMed:14635119, ECO:0000269|PubMed:15609522, ECO:0000269|PubMed:15776010, ECO:0000269|PubMed:16970763, ECO:0000269|PubMed:17128466, ECO:0000269|PubMed:17296899, ECO:0000269|PubMed:17325173, ECO:0000269|PubMed:17334993, ECO:0000269|PubMed:20340138, ECO:0000269|PubMed:28192794, ECO:0000269|PubMed:7627181, ECO:0000269|PubMed:7662640, ECO:0000269|PubMed:7795608, ECO:0000269|PubMed:7993212, ECO:0000269|PubMed:8069314, ECO:0000269|PubMed:8268931, ECO:0000269|PubMed:8281159, ECO:0000269|PubMed:8589700, ECO:0000269|PubMed:8741107, ECO:0000269|PubMed:8807344, ECO:0000269|PubMed:8990009, ECO:0000269|PubMed:9143918, ECO:0000269|PubMed:9382152, ECO:0000269|PubMed:9407136}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]: An X-linked form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. {ECO:0000269|PubMed:16163268, ECO:0000269|PubMed:16970763, ECO:0000269|PubMed:17296899, ECO:0000269|PubMed:17325173, ECO:0000269|PubMed:8252044, ECO:0000269|PubMed:8946107, ECO:0000269|PubMed:9143917}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.
uniprot
proteins
mass_dalton
15044
uniprot
proteins
mutagenesis
MUTAGEN 95; /note="C->A: Impairs oligomerization."; /evidence="ECO:0000269|PubMed:9407136
uniprot
proteins
pubmed
10452356
uniprot
proteins
pubmed
10484772
uniprot
proteins
pubmed
10544980
uniprot
proteins
pubmed
11337749
uniprot
proteins
pubmed
1303235
uniprot
proteins
pubmed
1303236
uniprot
proteins
pubmed
1303256
uniprot
proteins
pubmed
1303264
uniprot
proteins
pubmed
1307245
uniprot
proteins
pubmed
14635119
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15609522
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15776010
uniprot
proteins
pubmed
16163268
uniprot
proteins
pubmed
16970763
uniprot
proteins
pubmed
17128466
uniprot
proteins
pubmed
17296899
uniprot
proteins
pubmed
17325173
uniprot
proteins
pubmed
17334993
uniprot
proteins
pubmed
20340138
uniprot
proteins
pubmed
24186977
uniprot
proteins
pubmed
28192794
uniprot
proteins
pubmed
7627181
uniprot
proteins
pubmed
7662640
uniprot
proteins
pubmed
7795608
uniprot
proteins
pubmed
7993212
uniprot
proteins
pubmed
8069314
uniprot
proteins
pubmed
8252044
uniprot
proteins
pubmed
8268931
uniprot
proteins
pubmed
8281159
uniprot
proteins
pubmed
8298646
uniprot
proteins
pubmed
8589700
uniprot
proteins
pubmed
8741107
uniprot
proteins
pubmed
8807344
uniprot
proteins
pubmed
8946107
uniprot
proteins
pubmed
8990009
uniprot
proteins
pubmed
9143917
uniprot
proteins
pubmed
9143918
uniprot
proteins
pubmed
9382152
uniprot
proteins
pubmed
9407136
uniprot
proteins
sequence_length
133
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9407136}.
uniprot
proteins