NDN
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NDN (HGNC:7675) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
necdin, MAGE family member
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
HsT16328, PWCR
%HI
32.94(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.95(Read more about gnomAD pLI score)
LOEUF
0.48(Read more about gnomAD LOEUF score)
Cytoband
15q11.2
Genomic Coordinates
GRCh37/hg19: chr15:23930547-23932452 NCBI Ensembl UCSC
GRCh38/hg38: chr15:23685400-23687305 NCBI Ensembl UCSC
MANE Select Transcript
NM_002487.3 ENST00000649030.2 (Read more about MANE Select)
Function
Growth suppressor that facilitates the entry of the cell into cell cycle arrest. Functionally similar to the retinoblastoma protein it binds to and represses the activity of cell-cycle-promoting proteins such as SV40 large T antigen, adenovirus E1A, and the transcription factor E2F. Necdin also interacts with p53 and works in an additive manner to inhibit cell growth. Also functions as a transcription factor and directly binds to specific guanosine-rich DNA sequences (By similarity). {ECO:000025... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34489
ClinGen Curation ID:
CCID:007526
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/27/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Kanber et al. (2009) report on 2 patients with PWS that have atypical 15q11 deletions including SNRPN, but that do not include MKRN3, MAGEL2 and NDN, suggesting that deletion of these 3 genes do not cause the PWS phenotype (19066619). Beneduzzi et al. (2011) analyzed 160 patients with isolated hypogonadotropic hypogonadism (IHH) for mutations in NDN. They did not find any pathogenic variants in this gene. Note: This gene has been studied in mice for a relationship to the obesity phenotype observed in PWS, but no human mutations have been identified.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
PMID:18925931 Cai et al. (2008) identified a de novo 120 kb duplication including MKRN3, MAGEL2, and NDN using MLPA probes in monozygotic twins with autism.

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)