Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4693
Gene name Gene Name - the full gene name approved by the HGNC.
Norrin cystine knot growth factor NDP
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDP
Synonyms (NCBI Gene) Gene synonyms aliases
EVR2, FEVR, ND
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EVR2, ND
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vi
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018294 hsa-miR-335-5p Microarray 18185580
MIRT1178158 hsa-miR-3662 CLIP-seq
MIRT1178159 hsa-miR-3684 CLIP-seq
MIRT1178160 hsa-miR-4698 CLIP-seq
MIRT2051533 hsa-miR-1972 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001890 Process Placenta development IEA
GO:0005109 Function Frizzled binding IPI 17955262
GO:0005125 Function Cytokine activity IBA 21873635
GO:0005125 Function Cytokine activity IDA 17955262
GO:0005515 Function Protein binding IPI 17955262, 19837033
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300658 7678 ENSG00000124479
Protein
UniProt ID Q00604
Protein name Norrin (Norrie disease protein) (X-linked exudative vitreoretinopathy 2 protein)
Protein 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 tra
PDB 4MY2 , 5BPU , 5BQ8 , 5BQB , 5BQC , 5BQE , 5CL1 , 8WVX , 8WVY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00007 Cys_knot 37 133 Cystine-knot domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain. {ECO:0000269|PubMed:10452356}.
Sequence
Sequence length 133
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic Disorder, Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Unknown
Disease term Disease name Evidence References Source
Exudative Vitreoretinopathy exudative vitreoretinopathy 2, X-linked, exudative vitreoretinopathy GenCC
Persistent Hyperplastic Primary Vitreous persistent hyperplastic primary vitreous GenCC
Associations from Text Mining
Disease Name Relationship Type References
Albinism Associate 39596324
Anophthalmos Associate 26130484
Bone Diseases Metabolic Associate 24715757
Brain Neoplasms Associate 32182224
Cerebral Amyloid Angiopathy Associate 29860944
Ciliopathies Associate 39596324
Coloboma Associate 26130484
Colonic Neoplasms Associate 17386109
Colorectal Neoplasms Associate 17386109, 25005225
Corneal Neovascularization Associate 38243264