NDP (norrin cystine knot growth factor NDP)

2012-05-01 Affiliation

Identity

HGNC

NDP

LOCATION

Xp11.3

LOCUSID

4693

ALIAS

EVR2,FEVR,ND

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4693
MIM: 300658
HGNC: 7678
Ensembl: ENSG00000124479

Variants:

dbSNP: 4693
ClinVar: 4693
TCGA: ENSG00000124479
COSMIC: NDP

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000124479	ENST00000642620	Q00604
ENSG00000124479	ENST00000647044	Q00604

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
20340138	2010	Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.	56
17158104	2007	Mutational analysis of Norrin-Frizzled4 recognition.	53
20427659	2010	Norrin mediates neuroprotective effects on retinal ganglion cells via activation of the Wnt/beta-catenin signaling pathway and the induction of neuroprotective growth factors in Muller cells.	41
16714476	2006	Wnt/Frizzled signaling in the vasculature: new angiogenic factors in sight.	34
24186977	2013	Structure and function of Norrin in assembly and activation of a Frizzled 4-Lrp5/6 complex.	34
26158506	2015	Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5/6, and proteoglycan.	32
23444378	2013	Multi-functional norrin is a ligand for the LGR4 receptor.	31
20053900	2010	Norrin promotes vascular regrowth after oxygen-induced retinal vessel loss and suppresses retinopathy in mice.	27
11322656	2001	Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity.	18
16052165	2005	Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity.	17

Citation

Dessen P

NDP (norrin cystine knot growth factor NDP)

Atlas Genet Cytogenet Oncol Haematol. 2012-05-01

Online version: http://atlasgeneticsoncology.org/gene/52704/ndp-(norrin-cystine-knot-growth-factor-ndp)