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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NOTCH2NLA
notch 2 N-terminal like A
Chromosome 1 Β· 1q21.1
NCBI Gene: 388677Ensembl: ENSG00000264343.7HGNC: HGNC:31862UniProt: A0A8I5KR58
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Notch bindingprotein bindingcerebral cortex developmentpositive regulation of Notch signaling pathwayneutropeniaAlzheimer diseaseneoplasmcancer
✦AI Summary

NOTCH2NLA is a human-specific protein that emerged 2.1-3.7 million years ago through segmental duplication on chromosome 1 12. As a highly conserved paralog present in every human haplotype, NOTCH2NLA plays a critical role in cerebral cortex expansion by promoting neural progenitor proliferation and self-renewal 13. Mechanistically, NOTCH2NLA enhances Notch signaling through dual pathways: non-cell-autonomous interaction with NOTCH2 and cell-autonomous inhibition of cis DLL1-NOTCH2 interactions that promote neuronal differentiation, thereby delaying progenitor differentiation and increasing overall neuronal output. NOTCH2NLA harbors paralog-specific regulatory elements that distinguish it from other NOTCH2NL variants, suggesting specialized transcriptional control 12. Clinically, mutations or structural variations affecting NOTCH2NLA are implicated in microcephaly, reflecting its essential contribution to normal human brain size determination 3. The gene's human-specific origin and neurodevelopmental function underscore its significance in the evolutionary expansion of human cortical capacity.

Sources cited
1
NOTCH2NLA is a human-specific paralog present in every human haplotype that emerged ~2.1 million years ago; harbors paralog-specific regulatory elements
PMID: 40166283
2
NOTCH2NLA protein-coding copies emerged in humans 2.2-3.7 million years ago; most fixed paralog with greatest number of paralog-specific regulatory elements
PMID: 41916274
3
NOTCH2NLA is a human-specific gene that contributed to cerebral cortex expansion; mutations may cause or contribute to microcephaly
PMID: 34063381
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neutropeniaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
microcephalyOpen Targets
0.01Suggestive
metastatic malignant neoplasmOpen Targets
0.01Suggestive
MacrocephalyOpen Targets
0.01Suggestive
nervous system diseaseOpen Targets
0.01Suggestive
Miyoshi myopathyOpen Targets
0.00Suggestive
neuroblastomaOpen Targets
0.00Suggestive
psoriatic arthritisOpen Targets
0.00Suggestive
red-green color blindnessOpen Targets
0.00Suggestive
Neurodevelopmental disorderOpen Targets
0.00Suggestive
autismOpen Targets
0.00Suggestive
Ehlers-Danlos syndrome, musculocontractural typeOpen Targets
0.00Suggestive
Mayer-Rokitansky-Kuster-Hauser syndromeOpen Targets
0.00Suggestive
microphthalmia with limb anomaliesOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
oral squamous cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
NOTCH2NLBShared pathway100%NOTCH2NLCShared pathway100%CCDC85CShared pathway50%ENHOShared pathway33%TM2D3Shared pathway33%BTBD3Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Ovary
53%
Lung
37%
Liver
23%
Heart
6%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
NOTCH2NLANOTCH2NLBNOTCH2NLCCCDC85CENHOTM2D3BTBD3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7Z3S9
View on AlphaFold β†—
RankingsWhere NOTCH2NLA stands among ~20K protein-coding genes
  • #12,188of 20,598
    Most Researched29
Genes detectedNOTCH2NLA
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Genetic diversity and regulatory features of human-specific
PMID: 40166283
bioRxiv Β· 2025
1.00
2
Human-Specific Genes, Cortical Progenitor Cells, and Microcephaly.
PMID: 34063381
Cells Β· 2021
0.75
3
Genetic diversity and regulatory features of human-specific NOTCH2NL duplications.
PMID: 41916274
Cell Genom Β· 2026
0.50
4
Profiling pharmacokinetics of double-negative T cells and cytokines via a single intravenous administration in NSG mice.
PMID: 34138477
Biopharm Drug Dispos Β· 2021
0.25