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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NNAT
neuronatin
Chromosome 20 · 20q11.23
NCBI Gene: 4826Ensembl: ENSG00000053438.11HGNC: HGNC:7860UniProt: A0A3B3ITN5
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of insulin secretioncytoplasmbrain developmentprotein lipoylationAlzheimer diseasechronic laryngitisbreast cancerovarian dysfunction
✦AI Summary

NNAT (neuronatin) is an imprinted gene with critical roles in nervous system development and metabolic regulation 1. Primarily functioning in brain development and pituitary maturation 2, NNAT localizes to the endoplasmic reticulum and lysosomes where it regulates calcium homeostasis through ORAI channel interaction 3. The protein demonstrates a strong predisposition to misfold and form cytotoxic aggregates 1. In disease, NNAT dysfunction links to multiple pathologies. Neuronatin aggregation within cortical neurons drives Lafora disease, a fatal neurodegenerative condition, while hyperglycemia-induced accumulation destroys pancreatic beta cells in diabetes 1. NNAT expression is restricted to specialized beta cell subpopulations required for normal insulin synthesis and secretion, with differential DNA methylation controlling this heterogeneity 4. Loss of NNAT expression associates with anorexia nervosa susceptibility 5 and triggers metabolic polyphenism via HDAC-dependent beta cell hyperproliferation 6. Conversely, NNAT upregulation by oxidative stress suppresses estrogen receptor-positive breast cancer proliferation 3. As an imprinted gene, NNAT normally expresses only the paternal allele; loss of imprinting from altered DNA methylation promotes aberrant cell proliferation and metastasis 1.

Sources cited
1
NNAT is an imprinted gene involved in brain development; neuronatin protein misfolds and forms aggregates causing apoptosis; aggregation drives Lafora disease and beta cell death in diabetes; loss of imprinting triggers proliferation and metastasis
PMID: 24345642
2
NNAT is a brain-specific gene crucial for brain development; regulates Ca2+ signaling, glucose transport, insulin secretion, and inflammation
PMID: 27442611
3
NNAT localizes to endoplasmic reticulum and lysosomes; regulates intracellular calcium influx through ORAI channel interaction; is upregulated by oxidative stress via ROS and PPAR signaling; suppresses ER+ breast cancer proliferation
PMID: 37400769
4
NNAT is required for normal insulin synthesis and secretion; differentially expressed in specialized beta cell subpopulations; differential DNA methylation at NNAT controls beta cell heterogeneity during development in DNMT3A-dependent manner
PMID: 38512414
5
Reduced NNAT levels increase susceptibility to anorexia nervosa; rare-coding missense mutations affect protein function and stability
PMID: 35655118
6
NNAT deficiency triggers metabolic polyphenism with insulin-dependent overgrowth mediated by HDAC-dependent beta cell hyperproliferation; NNAT expression patterns stratify humans into distinct metabolic states
PMID: 36097183
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.10Suggestive
chronic laryngitisOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
ovarian dysfunctionOpen Targets
0.08Suggestive
Abnormal pupillary functionOpen Targets
0.07Suggestive
exercise-induced hyperinsulinismOpen Targets
0.05Suggestive
hyperinsulinemic hypoglycemia, familial, 2Open Targets
0.05Suggestive
chronic pancreatitisOpen Targets
0.05Suggestive
hyperinsulinemic hypoglycemia, familial, 1Open Targets
0.04Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.04Suggestive
hyperinsulinism-hyperammonemia syndromeOpen Targets
0.04Suggestive
Down syndromeOpen Targets
0.04Suggestive
ataxia telangiectasiaOpen Targets
0.04Suggestive
obesityOpen Targets
0.04Suggestive
islet cell adenomatosisOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.04Suggestive
diabetic ketoacidosisOpen Targets
0.03Suggestive
Hepatic veno-occlusive disease - immunodeficiencyOpen Targets
0.03Suggestive
hepatic veno-occlusive disease-immunodeficiency syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BLCAPProtein interaction97%PLAGL1Protein interaction87%PEG10Protein interaction87%IGF2Protein interaction72%MESTProtein interaction72%MATCAP1Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
32%
Liver
10%
Heart
9%
Ovary
8%
Lung
6%
Gene Interaction Network
Click a node to explore
NNATBLCAPPLAGL1PEG10IGF2MESTMATCAP1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q16517
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.64 [0.38–1.15]
RankingsWhere NNAT stands among ~20K protein-coding genes
  • #11,199of 20,598
    Most Researched34
  • #12,035of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedNNAT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate NNAT-aggregates as a common downstream participant in neuronal loss.
PMID: 24345642
Genomics · 2014
1.00
2
Exploring NAD
PMID: 38182101
Biochimie · 2024
0.90
3
Differential CpG methylation at Nnat in the early establishment of beta cell heterogeneity.
PMID: 38512414
Diabetologia · 2024
0.80
4
In silico identification of the rare-coding pathogenic mutations and structural modeling of human NNAT gene associated with anorexia nervosa.
PMID: 35655118
Eat Weight Disord · 2022
0.70
5
Independent phenotypic plasticity axes define distinct obesity sub-types.
PMID: 36097183
Nat Metab · 2022
0.60