Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9118
Gene name Gene Name - the full gene name approved by the HGNC.	Internexin neuronal intermediate filament protein alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	INA
Synonyms (NCBI Gene) Gene synonyms aliases	NEF5, NF-66, NF66, TXBP-1
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q24.33
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(1)

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

Show/Hide all(27)

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

Show/Hide all(24)

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

MIM	HGNC	e!Ensembl
605338	6057	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

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenoma	Associate	21777459
Arrhythmias Cardiac	Associate	37226398, 38109436
Astrocytoma	Associate	21246521
ATR X syndrome	Stimulate	32859823
Atrial Fibrillation	Associate	36274100
Brain Neoplasms	Associate	32783304
Brugada Syndrome	Associate	24363796, 32709127
Brugada Syndrome	Inhibit	37226398
Carcinoma	Associate	21246521
Carcinoma Renal Cell	Associate	36232491
Charcot Marie Tooth disease Type 1F	Associate	31574566
Colorectal Neoplasms	Associate	21777459, 24362313
Early Onset Glaucoma	Associate	34281161
Frontotemporal Lobar Degeneration	Associate	25917047
Gastro enteropancreatic neuroendocrine tumor	Associate	29940892
Glioblastoma	Associate	23579442
Glioma	Associate	18492260, 21246521, 23579442, 32783304, 32859823
Insulinoma	Associate	28526880
Long QT syndrome type 3	Associate	31378668
Myopathy desmin storage	Associate	15505152, 21603978
Myotilinopathy	Associate	17823282
Neoplasm Metastasis	Associate	36232491
Neoplasms	Associate	20966545, 21246521, 24362313, 29940892
Neuroendocrine Tumors	Associate	28526880
Oligodendroglioma	Associate	14997935, 23579442
Pick Disease of the Brain	Associate	21603978
Post Acute COVID 19 Syndrome	Associate	19879541
Romano Ward Syndrome	Associate	31378668
Short QT Syndrome 1	Associate	34281161
Sick Sinus Syndrome	Associate	29473904
Stuttering	Associate	31669185

INA (internexin neuronal intermediate filament protein alpha)