INA (internexin neuronal intermediate filament protein alpha)

Gene

• Entrez ID: 9118
• Gene name: Internexin neuronal intermediate filament protein alpha
• Gene symbol: INA
• Synonyms (NCBI Gene): NEF5, NF-66, NF66, TXBP-1
• Chromosome: 10
• Chromosome location: 10q24.33
• Summary: Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs920363358	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020605	hsa-miR-155-5p	Proteomics	18668040
MIRT021884	hsa-miR-128-3p	Microarray	17612493
MIRT022315	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT027268	hsa-miR-101-3p	Sequencing	20371350
MIRT440457	hsa-miR-376a-3p	HITS-CLIP	24374217
MIRT440457	hsa-miR-376a-3p	HITS-CLIP	24374217
MIRT1066092	hsa-miR-1285	CLIP-seq
MIRT1066093	hsa-miR-221	CLIP-seq
MIRT1066094	hsa-miR-222	CLIP-seq
MIRT1066095	hsa-miR-3187-5p	CLIP-seq
MIRT1066096	hsa-miR-4463	CLIP-seq
MIRT1066097	hsa-miR-4672	CLIP-seq
MIRT1066098	hsa-miR-4710	CLIP-seq
MIRT1066099	hsa-miR-4781-3p	CLIP-seq
MIRT1066100	hsa-miR-4792	CLIP-seq
MIRT1066101	hsa-miR-548v	CLIP-seq
MIRT1066102	hsa-miR-612	CLIP-seq
MIRT2015775	hsa-miR-1245	CLIP-seq
MIRT2015776	hsa-miR-326	CLIP-seq
MIRT2015777	hsa-miR-330-5p	CLIP-seq
MIRT2015778	hsa-miR-548t	CLIP-seq
MIRT2015779	hsa-miR-885-5p	CLIP-seq
MIRT2248206	hsa-miR-1271	CLIP-seq
MIRT2248207	hsa-miR-3160-3p	CLIP-seq
MIRT2248208	hsa-miR-4711-5p	CLIP-seq
MIRT2248209	hsa-miR-96	CLIP-seq
MIRT2389425	hsa-miR-548u	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	7769995
GO:0005515	Function	Protein binding	IPI	28514442, 32814053, 33961781, 36931259, 37207277
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IBA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005883	Component	Neurofilament	IEA
GO:0005883	Component	Neurofilament	TAS	7769995
GO:0007399	Process	Nervous system development	IEA
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0030154	Process	Cell differentiation	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	15121898
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045111	Component	Intermediate filament cytoskeleton	IEA
GO:0060052	Process	Neurofilament cytoskeleton organization	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0099160	Component	Postsynaptic intermediate filament cytoskeleton	IBA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0099184	Function	Structural constituent of postsynaptic intermediate filament cytoskeleton	IBA
GO:0099184	Function	Structural constituent of postsynaptic intermediate filament cytoskeleton	IEA
GO:0099185	Process	Postsynaptic intermediate filament cytoskeleton organization	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 605338
• HGNC: 6057
• e!Ensembl: ENSG00000148798

Protein

• UniProt ID: Q16352
• Protein name: Alpha-internexin (Alpha-Inx) (66 kDa neurofilament protein) (NF-66) (Neurofilament-66) (Neurofilament 5)
• Protein function: Class-IV neuronal intermediate filament that is able to self-assemble. It is involved in the morphogenesis of neurons. It may form an independent structural network without the involvement of other neurofilaments or it may cooperate with NEFL to
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04732	Filament_head	10 → 92	Intermediate filament head (DNA binding) region	Family
  PF00038	Filament	93 → 406	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Found predominantly in adult CNS.
• Sequence:

  MSFGSEHYLCSSSSYRKVFGDGSRLSARLSGAGGAGGFRSQSLSRSNVASSAACSSASSL
  GLGLAYRRPPASDGLDLSQAAARTNEYKIIRTNEKEQLQGLNDRFAVFIEKVHQLETQNR
  ALEAELAALRQRHAEPSRVGELFQRELRDLRAQLEEASSARSQALLERDGLAEEVQRLRA
  RCEEESRGREGAERALKAQQRDVDGATLARLDLEKKVESLLDELAFVRQVHDEEVAELLA
  TLQASSQAAAEVDVTVAKPDLTSALREIRAQYESLAAKNLQSAEEWYKSKFANLNEQAAR
  STEAIRASREEIHEYRRQLQARTIEIEGLRGANESLERQILELEERHSAEVAGYQDSIGQ
  LENDLRNTKSEMARHLREYQDLLNVKMALDIEIAAYRKLLEGEETRFSTSGLSISGLNPL
  PNPSYLLPPRILSATTSKVSSTGLSLKKEEEEEEASKVASKKTSQIGESFEEILEETVIS
  TKKTEKSNIEETTISSQKI

• Sequence length: 499

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal brain morphology	Likely pathogenic	rs920363358	RCV000454151	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	14997935, 23579442		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22609817		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	11796754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	6517610, 6733980		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	37226398, 38109436	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	21246521	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36274100	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	32783304	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	24363796, 32709127	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	37226398	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	21246521	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36232491	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	14997935, 23579442		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22914623		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21777459, 24362313	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Central Nervous System	Degenerative Diseases, Central Nervous System	CTD_human_DG	22430071		★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Spinal Cord	Degenerative Diseases, Central Nervous System	CTD_human_DG	22430071		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	24483152		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	16005115		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	19669651		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19139367, 23579442		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23579442	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19139367		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18492260, 21246521, 23579442, 32783304, 32859823	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21653654, 22002423		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19139110		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	24483152		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28121440		★☆☆☆☆ Found in Text Mining only
Long QT syndrome type 3	Long qt syndrome	Pubtator	31378668	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21246521		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	15003892, 20505158, 27581518, 28121440, 28453931, 29100408		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, 3	Myofibrillar myopathy	BEFREE	17823282		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19139367, 21246521, 21516462, 21653654, 22002423, 23579442, 24197863, 24483152, 26233522, 28526880, 28801664, 29940892		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	16005115		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	18528283		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	CTD_human_DG	22430071		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	24483152		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28526880, 29940892		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	14997935, 19139367, 21653654, 23579442		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	14997935, 23579442	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	16005115		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19110265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	15817674		★☆☆☆☆ Found in Text Mining only
Short QT Syndrome 1	Short qt syndrome	Pubtator	34281161	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	29473904	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	6517610		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	14997935, 19139367, 21653654, 23579442		★☆☆☆☆ Found in Text Mining only