NDN (Necdin) Gene
A MAGE family gene involved in neurodevelopment and genomic imprinting
Gene Information Card
| Symbol | NDN |
|---|---|
| Full Name | Necdin, MAGE Family Member |
| Gene Type | Protein coding |
| Chromosomal Location | 15q11.2 |
| NCBI Gene ID | 4692 ncbi.nlm.nih.gov/gene/4692 |
| Ensembl ID | ENSG00000182636 |
| UniProt ID | Q99608 |
| OMIM ID | 602117 |
| HGNC ID | 7675 |
| Aliases | MAGE family member, necdin |
Description
NDN (Necdin) is a maternally imprinted gene located in the Prader-Willi syndrome (PWS) critical region on chromosome 15q11.2. It encodes a member of the MAGE (melanoma antigen) family of proteins. Necdin is predominantly expressed in postmitotic neurons and plays a role in neuronal differentiation, cell cycle exit, and survival. Loss of NDN expression due to paternal deletion or imprinting defects contributes to the neurodevelopmental features of PWS.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prader-Willi syndrome | Paternal deletion or imprinting defect of 15q11.2 leads to loss of NDN expression; necdin deficiency impairs neuronal maturation and hypothalamic function. | OMIM #176270; NCBI Gene; ClinVar |
| Neuroblastoma | Reduced NDN expression correlates with poor prognosis; necdin acts as a growth suppressor in neural crest-derived tumors. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 15.2 | Medium |
| Testis | 8.3 | Low |
| Heart | 2.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.7 | Neuronal model; high expression |
| HEK293 (embryonic kidney) | 3.2 | Low expression |
| HeLa (cervical carcinoma) | 1.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Alters MAGE homology domain; functional impact unknown |
| Deletion of 15q11.2 | Structural | Common in PWS | Loss of NDN and other imprinted genes; causes Prader-Willi syndrome |
Mutation functional classification
Loss of Function (LOF)
Paternal deletion or imprinting defects leading to absence of necdin protein; associated with Prader-Willi syndrome.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• p53 signaling pathway (via interaction with MDM2)
• Cell cycle regulation (G1/S transition)
Protein Summary
Necdin is a 321-amino acid protein (UniProt Q99608) belonging to the MAGE family. It localizes to the nucleus and cytoplasm, and functions as a growth suppressor by interacting with transcription factors such as E2F1 and p53. In neurons, necdin promotes survival and differentiation. Its expression is imprinted, with only the paternal allele active in most tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDN Knockout HEK293 Cell Line | EDJ-KQ5308 | Human | 4692 | Details Get a Quote |
| NDNF Knockout HEK293 Cell Line | EDJ-KQ14401 | Human | 79625 | Details Get a Quote |
| NDN Knockout A-549 Cell Line | EDJ-KQ27144 | Human | 4692 | Details Get a Quote |
| NDN Knockout HeLa Cell Line | EDJ-KQ53966 | Human | 4692 | Details Get a Quote |
| NDNF Knockout HeLa Cell Line | EDJ-KQ57194 | Human | 79625 | Details Get a Quote |
| NDNF Knockout A-549 Cell Line | EDJ-KQ65703 | Human | 79625 | Details Get a Quote |
| NDN Knockout HCT 116 Cell Line | EDJ-KQ70923 | Human | 4692 | Details Get a Quote |
| NDNF Knockout HCT 116 Cell Line | EDJ-KQ74125 | Human | 79625 | Details Get a Quote |
