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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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INA
internexin neuronal intermediate filament protein alpha
Chromosome 10 Β· 10q24.33
NCBI Gene: 9118Ensembl: ENSG00000148798.12HGNC: HGNC:6057UniProt: Q16352
100PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
substantia nigra developmentGO:0005615cytoplasmic ribonucleoprotein granuleprotein bindingneurodegenerative diseasekidney diseaseAbnormal brain morphologytype 2 diabetes mellitus
✦AI Summary

INA (internexin neuronal intermediate filament protein alpha) is a Class-IV neuronal intermediate filament protein that plays a critical role in neuronal morphogenesis and cytoskeletal organization. INA functions as a structural component that can self-assemble to form independent filamentous networks or cooperate with other neurofilament proteins (NEFL, NEFM, NEFH) to form the structural backbone of the postsynaptic intermediate filament cytoskeleton. INA participates in substantia nigra development and intermediate filament organization. INA stability and homeostasis are regulated by the CRL3GIG-USP15 ubiquitin-proteasome pathway, where gigaxonin (GIG) targets INA for proteasomal degradation via a specific NEFLL12 degron 1. Mutations in GAN gene encoding gigaxonin disrupt INA binding and cause its pathological accumulation in axons, leading to giant axonal neuropathy (GAN). Beyond neurofilament regulation, this pathway also controls actin filament dynamics through targeting actin-binding regulatory proteins 1. Clinically, INA dysfunction is associated with neurodegenerative conditions. INA interacts with the NMDA receptor through the GCOM1 complex, suggesting involvement in neuroprotective pathways 2. These protein-protein interactions implicate INA in synaptic function and neurologic disease mechanisms. Understanding INA regulation offers therapeutic opportunities for treating GAN and related neurodegenerative diseases by modulating CRL3GIG substrate targeting.

Sources cited
1
CRL3GIG-USP15 pathway governs destruction of INA through NEFLL12 degron; mutations in gigaxonin disrupt INA binding causing accumulation in GAN
PMID: 37903270
2
INA interacts with NMDA receptor NR1 subunit and GCOM1 protein, suggesting role in neuroprotection and synaptic function
PMID: 29339073
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.37Weak
kidney diseaseOpen Targets
0.33Weak
Abnormal brain morphologyOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
dyslexiaOpen Targets
0.07Suggestive
edemaOpen Targets
0.06Suggestive
Varicose veinsOpen Targets
0.05Suggestive
diabetic retinopathyOpen Targets
0.05Suggestive
diabetic neuropathyOpen Targets
0.05Suggestive
astrocytomaOpen Targets
0.05Suggestive
lung carcinomaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
Ovarian cystOpen Targets
0.04Suggestive
gliomaOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
ependymomaOpen Targets
0.04Suggestive
psoriasisOpen Targets
0.03Suggestive
ataxia telangiectasiaOpen Targets
0.03Suggestive
Pathogenic Variants1
NM_032727.4(INA):c.562G>A (p.Gly188Arg)Likely pathogenic
Abnormal brain morphology
β˜…β˜†β˜†β˜†β†’ Residue 188
View on ClinVar β†—
Related Genes
NEFMProtein interaction100%NEFHProtein interaction100%VIMProtein interaction100%GANProtein interaction100%NESProtein interaction85%TANC1Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Liver
0%
Bone Marrow
0%
Lung
0%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
INANEFMNEFHVIMGANNESTANC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q16352
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.48LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.11 [0.84–1.48]
RankingsWhere INA stands among ~20K protein-coding genes
  • #4,783of 20,598
    Most Researched100 Β· top quartile
  • #4,887of 5,498
    Most Pathogenic Variants1
  • #15,053of 17,882
    Most Constrained (LOEUF)1.48
Genes detectedINA
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
SCN10A-short gene therapy to restore conduction and protect against malignant cardiac arrhythmias.
PMID: 39973098
Eur Heart J Β· 2025
1.00
2
Late INa Inhibition as an Antiarrhythmic Strategy.
PMID: 28654510
J Cardiovasc Pharmacol Β· 2017
0.90
3
Cardiac sodium channelopathies.
PMID: 20091048
Pflugers Arch Β· 2010
0.80
4
The CRL3
PMID: 37903270
Proc Natl Acad Sci U S A Β· 2023
0.70
5
Alcohol and retinoids.
PMID: 11391073
Alcohol Clin Exp Res Β· 2001
0.60