NDN

Chr 15

necdin, MAGE family member

Also known as: HsT16328, PWCR

Necdin functions as a growth suppressor that facilitates cell cycle arrest in postmitotic neurons and acts as a transcription factor that binds to guanosine-rich DNA sequences. Mutations cause Prader-Willi syndrome, a complex neurodevelopmental disorder with neonatal hypotonia, feeding difficulties, hyperphagia, intellectual disability, and behavioral problems. The gene shows paternal-only expression due to genomic imprinting, so disease occurs through paternal deletions or maternal uniparental disomy of the 15q11-q13 region.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.60
Clinical SummaryNDN
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.67) — some intolerance to loss-of-function variants.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.60LOEUF
pLI 0.675
Z-score 2.28
OE 0.13 (0.040.60)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.71Z-score
OE missense 0.86 (0.760.97)
167 obs / 194.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.13 (0.040.60)
00.351.4
Missense OE0.86 (0.760.97)
00.61.4
Synonymous OE1.14
01.21.6
LoF obs/exp: 1 / 7.9Missense obs/exp: 167 / 194.8Syn Z: -1.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NDN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
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