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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NPAS4
neuronal PAS domain protein 4
Chromosome 11 · 11q13.2
NCBI Gene: 266743Ensembl: ENSG00000174576.11HGNC: HGNC:18983UniProt: Q8IUM7
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein heterodimerization activityRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription activator activity, RNA polymerase II-specificAbnormality of the skeletal systemcutaneous melanomamicrocephalycataract
✦AI Summary

NPAS4 is a neuronal activity-dependent transcription factor that serves as a critical molecular link between neuronal activity and memory formation. It functions as one of the most rapidly induced immediate-early genes, being expressed exclusively in neurons and selectively activated by neuronal activity 1. NPAS4 operates through heterodimerization with bHLH-PAS family members including ARNT, ARNT2, or BMAL1 to enable efficient DNA binding 2. The protein exhibits a unique structural architecture with ordered bHLH and PAS domains while maintaining intrinsically disordered regions, and contains multiple phosphorylation sites in its PAS domains 3. NPAS4 orchestrates distinct activity-dependent gene programs in different neuronal populations, affecting synaptic connections in both excitatory and inhibitory neurons, thereby regulating neural circuit plasticity and memory formation 1. Beyond its role in learning and memory, NPAS4 demonstrates neuroprotective properties in cerebral ischemia by modulating cell death pathways and inflammatory responses 4. The transcription factor has emerged as a potential autoantigen in some cases of autoimmune limbic encephalitis, highlighting its clinical relevance in neurological disorders 5. NPAS4's broad involvement in activity-driven transcriptional programs positions it as a key regulator of neuronal plasticity and homeostasis 6.

Sources cited
1
NPAS4 is a rapidly induced immediate-early gene expressed only in neurons and serves as a molecular link between neuronal activity and memory
PMID: 26987258
2
NPAS4 heterodimerizes with ARNT, ARNT2, and BMAL1 for efficient DNA binding
PMID: 36343253
3
NPAS4 has ordered bHLH and PAS domains with intrinsically disordered regions and phosphorylation sites
PMID: 29915698
4
NPAS4 has neuroprotective roles in cerebral ischemia by modulating cell death and inflammatory pathways
PMID: 26690124
5
NPAS4 has been identified as a potential autoantigen in autoimmune limbic encephalitis
PMID: 40133514
6
NPAS4 is involved in activity-driven transcriptional programs underlying neuronal plasticity
PMID: 24935719
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.22Weak
cutaneous melanomaOpen Targets
0.13Weak
microcephalyOpen Targets
0.12Weak
cataractOpen Targets
0.12Weak
epilepsy, X-linked 1, with variable learning disabilities and behavior disordersOpen Targets
0.06Suggestive
X-linked epilepsy - learning disabilities - behavior disordersOpen Targets
0.06Suggestive
colorectal cancerOpen Targets
0.06Suggestive
developmental and epileptic encephalopathy, 9Open Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
autosomal dominant nocturnal frontal lobe epilepsy 5Open Targets
0.06Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.05Suggestive
intellectual disability, autosomal dominant 50Open Targets
0.05Suggestive
risk-taking behaviourOpen Targets
0.05Suggestive
developmental and epileptic encephalopathy 104Open Targets
0.05Suggestive
X-linked intellectual disability - epilepsyOpen Targets
0.05Suggestive
microcephaly 9, primary, autosomal recessiveOpen Targets
0.05Suggestive
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
0.05Suggestive
Intellectual disability - hypotonia - spasticity - sleep disorderOpen Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARNTProtein interaction100%ARNT2Protein interaction100%MAPK3Protein interaction99%FOSProtein interaction99%BMAL1Protein interaction85%BDNFProtein interaction85%
Tissue Expression6 tissues
Ovary
100%
Liver
57%
Lung
50%
Brain
25%
Bone Marrow
14%
Heart
0%
Gene Interaction Network
Click a node to explore
NPAS4ARNTARNT2MAPK3FOSBMAL1BDNF
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8IUM7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.13 [0.07–0.23]
RankingsWhere NPAS4 stands among ~20K protein-coding genes
  • #15,324of 20,598
    Most Researched16
  • #672of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedNPAS4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structural insights and characterization of human Npas4 protein.
PMID: 29915698
PeerJ · 2018
1.00
2
Npas4: Linking Neuronal Activity to Memory.
PMID: 26987258
Trends Neurosci · 2016
0.90
3
The Role of the Neuroprotective Factor Npas4 in Cerebral Ischemia.
PMID: 26690124
Int J Mol Sci · 2015
0.80
4
Epigenetics in Learning and Memory.
PMID: 39820860
Subcell Biochem · 2025
0.70
5
Exploring autoantigens in autoimmune limbic encephalitis using phage immunoprecipitation sequencing.
PMID: 40133514
J Neurol · 2025
0.60