 |
NDP |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NDP (HGNC:7678) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- norrin cystine knot growth factor NDP
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- EVR2
- Alias symbols
- norrin
- %HI
- 3.81(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.65(Read more about gnomAD pLI score)
- LOEUF
- 0.88(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.3
- Genomic Coordinates
-
GRCh37/hg19: chrX:43808022-43832636 NCBI Ensembl UCSC GRCh38/hg38: chrX:43948776-43973390 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000266.4 ENST00000642620.1 (Read more about MANE Select)
- 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... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- Norrie disease Monarch
-
PUBMED:
PMID:8790105
In a boy with Norrie disease, Chynn et al. (1996) identified a 1-bp deletion in codon 35 of the NDP gene. The deletion resulted in a frameshift and a premature stop at codon 40 (out of 133 codons). The unaffected mother was heterozygous for the mutation.
-
PUBMED:
PMID:1301161
In a family with 2 members affected with Norrie disease, Walker et al. (1997) identified a C-to-A transversion in exon 3 of the NDP gene, resulting in a nonsense mutation at amino acid 73 (S73X). NDP encodes a 133 amino acid protein. The authors state that this mutation is predicted to produce a nonfunctional truncated protein.
-
PUBMED:
PMID:1307245
Berger et al. (1992) identified 11 different mutations in the NDP gene in 17 unrelated patients with Norrie disease. These include 5 missense mutations, 2 nonsense mutations (S57X and C110X, respectively), 2 1-bp deletions, 1 4-bp insertion, and 1 splice site mutation. These mutations were not identified in 15 healthy male controls.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
