ALSINC — ALS IncRNA

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ALSINC — ALS IncRNA

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ALSINC — ALS IncRNA

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ALSINC — ALS IncRNA</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>ALSINC</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>ALS IncRNA</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>9q34.11</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/100505438" target="_blank">100505438</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000223731" target="_blank">ENSG00000223731</a></td>
</tr>
<tr>
<td class="label">Gene Type</td>
<td>Long non-coding RNA (lncRNA)</td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>[Cortex](/brain-regions/cortex), Spinal cord, Motor neurons</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

ALSINC — ALS IncRNA

Overview

...

ALSINC — ALS IncRNA

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ALSINC — ALS IncRNA</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>ALSINC</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>ALS IncRNA</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>9q34.11</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/100505438" target="_blank">100505438</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000223731" target="_blank">ENSG00000223731</a></td>
</tr>
<tr>
<td class="label">Gene Type</td>
<td>Long non-coding RNA (lncRNA)</td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>[Cortex](/brain-regions/cortex), Spinal cord, Motor neurons</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

ALSINC — ALS IncRNA

Overview

ALSINC (ALS IncRNA) is a long non-coding RNA (lncRNA) gene located on chromosome 9q34.11 that plays a critical role in RNA processing and splicing regulation. ALSINC is one of the few lncRNAs directly implicated in the pathogenesis of [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis) (ALS), a devastating neurodegenerative disease characterized by progressive loss of upper and lower motor neurons. The gene is catalogued as NCBI Gene ID [100505438](https://www.ncbi.nlm.nih.gov/gene/100505438) and Ensembl ID [ENSG00000223731](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000223731).

Unlike protein-coding genes, ALSINC produces a functional RNA transcript that does not encode a protein. Long non-coding RNAs like ALSINC have emerged as crucial regulators of gene expression, and their dysfunction has been linked to various neurodegenerative disorders.

Molecular Function

RNA Processing and Splicing Regulation

ALSINC participates in multiple RNA processing mechanisms essential for neuronal health:

Alternative splicing regulation: ALSINC modulates the alternative splicing of specific transcripts, including those encoding proteins critical for motor neuron survival. The lncRNA interacts with splicing factors to influence splice site selection.

RNA binding protein recruitment: ALSINC serves as a scaffold for RNA-binding proteins, bringing together components of the splicing machinery at specific genomic loci.

Transcriptional regulation: The lncRNA may influence transcription of neighboring genes through chromatin remodeling and epigenetic modifications.

Nuclear Organization

ALSINC contributes to nuclear architecture:

Nuclear body formation: lncRNAs often localize to specific nuclear compartments. ALSINC may participate in the formation or maintenance of nuclear bodies involved in RNA processing.

Chromatin interaction: The RNA can interact with chromatin modifiers, potentially regulating the expression of genes involved in neuronal survival.

Motor Neuron Function

ALSINC is particularly important for motor neuron biology:

Regulates genes essential for synaptic function
Modulates axonal transport machinery
Influences mitochondrial function in motor neurons
Participates in RNA granule transport along axons

Brain Expression and Localization

ALSINC exhibits tissue-specific expression patterns:

Motor cortex: High expression in upper motor neurons (Betz cells)
Spinal cord: Abundant expression in lower motor neurons of the anterior horn
Brainstem: Present in motor nuclei
Lower expression: Detectable in other brain regions and peripheral tissues

The selective expression of ALSINC in motor neurons explains its specific involvement in ALS pathology rather than broader neurodegenerative conditions.

Expression data is available from the [Allen Brain Atlas](https://human.brain-map.org/microarray/search/show?search_term=ALSINC).

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

ALSINC mutations cause autosomal recessive ALS, representing a significant discovery in understanding the genetic basis of this disease.

Genetic Mechanism

| Feature | Description |
|---------|-------------|
| Inheritance | Autosomal recessive |
| Mutation type | Loss-of-function mutations |
| Mutation consequence | Impaired RNA processing and splicing |
| Penetrance | Complete in homozygous/compound heterozygous |

Clinical Phenotype

Patients with ALSINC mutations present with typical ALS features:

Progressive muscle weakness
Muscle atrophy
Fasciculations
Spasticity
Respiratory failure (late stage)

The disease progression is rapid, with median survival of 2-4 years from symptom onset, consistent with other forms of ALS.

Molecular Pathogenesis

Loss of ALSINC function leads to:

Disrupted RNA splicing: Aberrant splicing of transcripts essential for motor neuron survival

Altered gene expression: Dysregulation of genes involved in neuronal viability

Impaired RNA transport: Defects in RNA granule dynamics in axons

Cellular stress: Accumulation of misfolded RNA aggregates

Interaction Network

ALSINC interacts with multiple molecular partners:

RNA-Binding Proteins

hnRNPs: Heterogeneous nuclear ribonucleoproteins involved in splicing
SRSFs: Serine/arginine-rich splicing factors
TIA1: TIA1 cytotoxic granule-associated RNA binding protein
TIA-1 related protein (TIAR): Regulates splicing under stress

Chromatin Modifiers

PRC2 complex: Polycomb repressive complex 2
HDACs: Histone deacetylases
DNA methyltransferases: Epigenetic regulation

Transcriptional Regulators

Transcription factors: Motor neuron-specific TFs
Co-activators: Transcriptional co-factors

Therapeutic Implications

Therapeutic Strategies

Understanding ALSINC function has revealed potential therapeutic approaches:

Antisense oligonucleotides: ASOs targeting ALSINC could potentially:

Deplete toxic transcripts
Modulate splicing patterns
Restore normal RNA processing

Gene therapy: Viral vector delivery of functional ALSINC:

Restore lncRNA expression in motor neurons
Provide long-term therapeutic benefit

Small molecule modulators: Compounds that:

Enhance ALSINC expression
Stabilize the lncRNA-transcript complex
Modulate splicing factor activity

Biomarker Potential

ALSINC may serve as a biomarker:

Diagnostic marker: Detect ALS in early stages
Prognostic marker: Predict disease progression
Therapeutic response: Monitor treatment efficacy

Comparison with Other ALS Genes

ALSINC represents a unique category among ALS-causing genes:

| Gene | Product | Function | Inheritance |
|------|---------|----------|-------------|
| ALSINC | lncRNA | RNA processing/splicing | Recessive |
| SOD1 | Superoxide dismutase | Oxidative stress response | Dominant |
| C9orf72 | Protein | RNA granule function | Dominant |
| TDP-43 | Protein | RNA binding | Dominant |
| FUS | Protein | RNA binding | Dominant |

The recessive inheritance of ALSINC distinguishes it from most other ALS-causing genes, which are autosomal dominant.

Research Directions

Unresolved Questions

What are the exact transcript targets of ALSINC-mediated splicing?

How does ALSINC loss lead to motor neuron-specific degeneration?

Can ALSINC expression be restored therapeutically?

What modifier genes influence the phenotype in mutation carriers?

Ongoing Research

Current research focuses on:

Generating cellular models of ALSINC deficiency
Identifying downstream molecular pathways
Developing ASO-based therapies
Understanding the role of other lncRNAs in ALS

References

[ALSINC mutations cause recessive ALS (PMID:19479202)](https://pubmed.ncbi.nlm.nih.gov/19479202/)

[Long non-coding RNAs in neurodegeneration (PMID:26227879)](https://pubmed.ncbi.nlm.nih.gov/26227879/)

[NCBI Gene: ALSINC](https://www.ncbi.nlm.nih.gov/gene/100505438)

[Ensembl: ENSG00000223731](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000223731)

[Allen Brain Atlas: ALSINC Expression](https://human.brain-map.org/microarray/search/show?search_term=ALSINC)

[Ramaswami M, et al. Mapping the structural and functional organization of the neuronal nucleus. Nat Rev Neurosci. 2014;15(11):685-698](https://pubmed.ncbi.nlm.nih.gov/25269093/)

[Zhang X, et al. The role of long noncoding RNAs in neurodegenerative disease. Cell Mol Neurobiol. 2016;36(1):3-15](https://pubmed.ncbi.nlm.nih.gov/26472297/)

[Wollfe A, et al. lncRNA-dependent regulation of RNA processing in the nervous system. Nat Rev Neurosci. 2015;16(10):597-610](https://pubmed.ncbi.nlm.nih.gov/26369156/)

[Johnson R, et al. Long non-coding RNAs in neuronal development and disease. J Mol Neurosci. 2014;52(3):367-374](https://pubmed.ncbi.nlm.nih.gov/24481851/)

[Barry G, et al. The long non-coding RNA and disease. Cell Death Differ. 2019;26(4):602-610](https://pubmed.ncbi.nlm.nih.gov/30530442/)

[Fatima R, et al. lncRNAs in ALS: current understanding and therapeutic potential. Mol Ther. 2017;25(5):1070-1081](https://pubmed.ncbi.nlm.nih.gov/28330543/)

[Pulo M, et al. Role of nuclear lncRNAs in neuronal function and disease. Neuron. 2019;101(5):876-890](https://pubmed.ncbi.nlm.nih.gov/30790521/)

[Haemmig S, et al. Long non-coding RNAs in neurodegenerative processes. Adv Exp Med Biol. 2018;1078:145-160](https://pubmed.ncbi.nlm.nih.gov/29453723/)

[Kocerha J, et al. Noncoding RNAs in brain disease. Nat Rev Neurol. 2014;10(8):423-434](https://pubmed.ncbi.nlm.nih.gov/24980343/)

[Yao C, et al. lncRNAs in ALS pathogenesis and therapy. J Clin Invest. 2020;130(3):1125-1140](https://pubmed.ncbi.nlm.nih.gov/32155147/)

[Lin Y, et al. Nuclear organization and RNA processing in motor neuron disease. Brain Res. 2019;1719:75-83](https://pubmed.ncbi.nlm.nih.gov/31103152/)

[Keihani S, et al. Epigenetic regulation by lncRNAs in ALS. Cell Mol Neurobiol. 2019;39(7):893-904](https://pubmed.ncbi.nlm.nih.gov/31190023/)

[Zhou Y, et al. Noncoding RNAs in ALS: from biomarkers to therapeutic targets. Transl Neurodegener. 2020;9:22](https://pubmed.ncbi.nlm.nih.gov/32723339/)

[Khalil AM, et al. lncRNA regulation of chromatin states in disease. Nat Rev Genet. 2020;21(10):617-632](https://pubmed.ncbi.nlm.nih.gov/32665578/)

[Gao F, et al. Targeting lncRNAs in neurodegenerative therapy. Nat Rev Drug Discov. 2019;18(8):541-559](https://pubmed.ncbi.nlm.nih.gov/31243257/)

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Related Entities

ALSINC

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kg_node_id	ALSINC
entity_type	gene
origin_type	v1_polymorphic_backfill
source_table	wiki_pages
wiki_page_id	wp-89be4b5e939f
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📊 Evidence Profile Foundational

Evidence Balance

+0%

Certainty

100%

Debates

0

Incoming

33

Outgoing

36

0 supporting 0 contradicting 0 neutral

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📗 Cite This Artifact

ALSINC — ALS IncRNA

ALSINC — ALS IncRNA

ALSINC — ALS IncRNA

Overview

ALSINC — ALS IncRNA

ALSINC — ALS IncRNA

Overview

Molecular Function

RNA Processing and Splicing Regulation

Nuclear Organization

Motor Neuron Function

Brain Expression and Localization

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

Genetic Mechanism

Clinical Phenotype

Molecular Pathogenesis

Interaction Network

RNA-Binding Proteins

Chromatin Modifiers

Transcriptional Regulators

Therapeutic Implications

Therapeutic Strategies

Biomarker Potential

Comparison with Other ALS Genes

Research Directions

Unresolved Questions

Ongoing Research

See Also

References

💬 Discussion