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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NBPF19
NBPF member 19
Chromosome 1 Β· 1q21.2
NCBI Gene: 101060226Ensembl: ENSG00000271383.10HGNC: HGNC:31999UniProt: A0A087WUL8
10PubMed Papers
6Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
cytoplasmkeratoconusneoplasmendometrial cancerneuronal intranuclear inclusion disease
✦AI Summary

Based on limited published evidence, NBPF19 function remains largely undefined in standard databases. However, noncoding CGG repeat expansions in NBPF19 (also designated NOTCH2NLC) are causative mutations for neuronal intranuclear inclusion disease (NIID) 1. The gene's involvement in NIID pathogenesis appears linked to aberrant repeat expansion rather than conventional protein function. NBPF19 belongs to the NBPF family of genes, though specific biological roles remain undetermined.

Sources cited
1
Noncoding CGG repeat expansions in NBPF19 (NOTCH2NLC) cause neuronal intranuclear inclusion disease (NIID)
PMID: 31332380
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜6
keratoconusOpen Targets
0.11Weak
neoplasmOpen Targets
0.00Suggestive
endometrial cancerOpen Targets
0.00Suggestive
neuronal intranuclear inclusion diseaseOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
leukemiaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
NOTCH2NLCProtein interaction79%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
74%
Ovary
65%
Liver
47%
Brain
16%
Heart
15%
Gene Interaction Network
Click a node to explore
NBPF19NOTCH2NLC
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt A0A087WUL8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.40LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.46–1.40]
RankingsWhere NBPF19 stands among ~20K protein-coding genes
  • #17,112of 20,598
    Most Researched10
  • #14,492of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedNBPF19
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
PMID: 31332380
Nat Genet Β· 2019
1.00