INA Gene - Internexin Neuronal Intermediate Filament Protein Alpha
Comprehensive gene card for INA, encoding alpha-internexin, a neuronal intermediate filament protein involved in neurofilament assembly and associated with neurodegenerative disorders.
Gene Information Card
| Symbol | INA |
|---|---|
| Full Name | Internexin Neuronal Intermediate Filament Protein Alpha |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.33 |
| NCBI Gene ID | 9118 ncbi.nlm.nih.gov/gene/9118 |
| Ensembl ID | ENSG00000148795 |
| UniProt ID | Q16352 |
| OMIM ID | 605338 |
| HGNC ID | 6057 |
| Aliases | NF-66, alpha-internexin, NEF5, FLJ26666 |
Description
The INA gene encodes alpha-internexin, a 66 kDa neuronal intermediate filament protein. It is a key component of the neuronal cytoskeleton, involved in neurofilament assembly and axonal transport. Mutations and dysregulation of INA are associated with neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and Charcot-Marie-Tooth disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Accumulation of alpha-internexin in neuronal inclusions; altered neurofilament dynamics | ClinVar, OMIM |
| Charcot-Marie-Tooth Disease | Missense mutations in INA disrupt neurofilament assembly, leading to peripheral neuropathy | ClinVar, OMIM |
| Neurodegeneration with Brain Iron Accumulation (NBIA) | Potential involvement in protein aggregation pathways | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Spinal Cord | 38.1 | High |
| Peripheral Nerve | 22.5 | Medium |
| Heart | 1.3 | Low |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 35.0 | Neuronal model, high expression |
| U-87 MG (glioblastoma) | 12.4 | Glial cell line, moderate expression |
| HeLa (cervical carcinoma) | 0.5 | Non-neuronal, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.151G>A (p.Glu51Lys) | Missense | Rare | Alters filament assembly; associated with Charcot-Marie-Tooth disease |
| c.802C>T (p.Arg268Cys) | Missense | Rare | Impaired neurofilament network; reported in ALS |
| c.1129A>G (p.Ile377Val) | Missense | 0.01% | Likely benign; population variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in INA are rare; they may disrupt neurofilament assembly and axonal transport, contributing to neurodegeneration.
Gain of Function (GOF)
Gain-of-function mechanisms are not well established for INA; however, aggregation-prone variants may exert toxic effects.
Dominant Negative (DN)
Dominant-negative mutations (e.g., p.Glu51Lys) interfere with wild-type alpha-internexin incorporation into filaments, leading to cytoskeletal dysfunction.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neurofilament assembly (Reactome: R-HSA-5250911)
• Axonal transport (KEGG: hsa04724)
• Intermediate filament organization (GO:0045109)
Protein Summary
Alpha-internexin (UniProt Q16352) is a 499-amino acid neuronal intermediate filament protein. It forms homopolymers and heteropolymers with other neurofilament proteins (NEFL, NEFM, NEFH) to build the axonal cytoskeleton. The protein contains a central alpha-helical rod domain flanked by non-helical head and tail domains. Post-translational modifications include phosphorylation, which regulates filament assembly and stability. Alpha-internexin is critical for neuronal morphology and axonal caliber.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INAFM1 Knockout HEK293 Cell Line | EDJ-KQ11808 | Human | 255783 | Details Get a Quote |
| INAFM2 Knockout HEK293 Cell Line | EDJ-KQ13834 | Human | 100505573 | Details Get a Quote |
| INAVA Knockout HEK293 Cell Line | EDJ-KQ13835 | Human | 55765 | Details Get a Quote |
| INAFM1 Knockout A-549 Cell Line | EDJ-KQ40224 | Human | 255783 | Details Get a Quote |
| INAFM1 Knockout HCT 116 Cell Line | EDJ-KQ40225 | Human | 255783 | Details Get a Quote |
| INAFM1 Knockout HeLa Cell Line | EDJ-KQ40226 | Human | 255783 | Details Get a Quote |
| INAFM2 Knockout A-549 Cell Line | EDJ-KQ42391 | Human | 100505573 | Details Get a Quote |
| INAFM2 Knockout HCT 116 Cell Line | EDJ-KQ43663 | Human | 100505573 | Details Get a Quote |
| INAFM2 Knockout HeLa Cell Line | EDJ-KQ43664 | Human | 100505573 | Details Get a Quote |
| INAVA Knockout A-549 Cell Line | EDJ-KQ43665 | Human | 55765 | Details Get a Quote |
| INAVA Knockout HCT 116 Cell Line | EDJ-KQ43666 | Human | 55765 | Details Get a Quote |
| INAVA Knockout HeLa Cell Line | EDJ-KQ43667 | Human | 55765 | Details Get a Quote |
| INA Knockout HEK293 Cell Line | EDJ-KQ50848 | Human | 9118 | Details Get a Quote |
| INA Knockout HeLa Cell Line | EDJ-KQ55087 | Human | 9118 | Details Get a Quote |
| INA Knockout A-549 Cell Line | EDJ-KQ63566 | Human | 9118 | Details Get a Quote |
