NNAT (Neuronatin)
Imprinted gene involved in brain development and tumor suppression
Gene Information Card
| Symbol | NNAT |
|---|---|
| Full Name | Neuronatin |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 4826 ncbi.nlm.nih.gov/gene/4826 |
| Ensembl ID | ENSG00000101200 |
| UniProt ID | Q16517 |
| OMIM ID | 603106 |
| HGNC ID | 7868 |
| Aliases | Peg5, DKFZp686B13100 |
Description
NNAT (neuronatin) is an imprinted gene located on chromosome 20q11.23, encoding a small proteolipid involved in brain development, ion channel regulation, and cell differentiation. It is paternally expressed and maternally silenced. NNAT plays roles in neuronal maturation, pancreatic beta-cell function, and tumor suppression. Altered expression is linked to neurological disorders and cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Reduced NNAT expression correlates with poor prognosis; acts as tumor suppressor via cell cycle regulation | PMID: 23468914 |
| Pancreatic neuroendocrine tumors | NNAT hypermethylation and silencing contribute to tumorigenesis | PMID: 20010856 |
| Epilepsy | NNAT variants associated with seizure susceptibility in animal models | PMID: 15689438 |
| Prader-Willi syndrome (imprinting defect) | Loss of imprinting at 20q11.23 may affect NNAT expression | OMIM: 603106 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Heart | 5.1 | Low |
| Liver | 1.2 | Not detected |
| Kidney | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in neuronal differentiation studies |
| MCF7 (breast cancer) | 2.1 | Low expression; silenced in some lines |
| HEK293 (embryonic kidney) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Rare variant; no disease association reported |
| Promoter hypermethylation | Epigenetic | Common in cancers | Silences NNAT expression; contributes to tumor progression |
Mutation functional classification
Loss of Function (LOF)
Promoter hypermethylation and rare missense variants (e.g., p.Met1?) likely reduce NNAT protein levels, impairing its tumor suppressor and neurodevelopmental roles.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nervous system development (GO:0007399) | • ion transport (GO:0006811) |
| • plasma membrane (GO:0005886) | • neuronal cell body (GO:0043025) |
| • protein binding (GO:0005515) |
Pathways
• Not assigned to any canonical KEGG or Reactome pathway
Protein Summary
Neuronatin is a 81-amino-acid proteolipid with two transmembrane domains, localized to the plasma membrane and endoplasmic reticulum. It modulates ion channel activity and intracellular calcium signaling. In the brain, it promotes neuronal differentiation and survival. In pancreatic beta-cells, it influences insulin secretion. Loss of NNAT expression is observed in several cancers, suggesting a tumor suppressor function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NNAT Knockout HEK293 Cell Line | EDJ-KQ50479 | Human | 4826 | Details Get a Quote |
| NNAT Knockout HeLa Cell Line | EDJ-KQ53997 | Human | 4826 | Details Get a Quote |
| NNAT Knockout A-549 Cell Line | EDJ-KQ62490 | Human | 4826 | Details Get a Quote |
| NNAT Knockout HCT 116 Cell Line | EDJ-KQ70956 | Human | 4826 | Details Get a Quote |
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