ALS2CL
ALS2 C-Terminal Like Gene
Gene Information Card
| Symbol | ALS2CL |
|---|---|
| Full Name | ALS2 C-Terminal Like |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 259173 ncbi.nlm.nih.gov/gene/259173 |
| Ensembl ID | ENSG00000163827 |
| UniProt ID | Q86VQ1 |
| OMIM ID | 613694 |
| HGNC ID | 20600 |
| Aliases | ALS2CR2, FLJ32028 |
Description
ALS2CL (ALS2 C-Terminal Like) is a protein-coding gene located on chromosome 3p21.31. It encodes a protein that shares similarity with the C-terminal region of ALS2 (alsin), a guanine nucleotide exchange factor (GEF) for Rab5 and Rac1. ALS2CL is thought to be involved in endosomal trafficking and may play a role in motor neuron function. The gene is expressed in multiple tissues, including the brain and spinal cord.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Potential modifier of ALS2 function; altered endosomal trafficking may contribute to motor neuron degeneration. | Limited evidence from homology studies and expression patterns; no direct ClinVar pathogenic variants reported. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 4.2 | Low |
| Spinal Cord | 3.8 | Low |
| Testis | 2.1 | Low |
| Heart | 1.5 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 3.5 | Neuronal model |
| HeLa | 1.2 | Cervical cancer |
| HEK293 | 0.9 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Predicted loss of function; no clinical significance reported |
| c.567G>A (p.Val189Met) | Missense | 0.02% | Unknown effect; not in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*) may lead to truncated protein and loss of normal function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ALS2CL.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • endosome |
| • intracellular protein transport | • Rab GTPase binding |
Pathways
• Endosomal trafficking
• Rab5-mediated endocytosis
Protein Summary
The ALS2CL protein (UniProt Q86VQ1) is a 1,024-amino acid protein that contains a C-terminal region homologous to ALS2. It is predicted to function as a guanine nucleotide exchange factor (GEF) for Rab5, regulating early endosome fusion and trafficking. Expression is highest in neural tissues, suggesting a role in neuronal maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALS2CL Knockout HEK293 Cell Line | EDJ-KQ12338 | Human | 259173 | Details Get a Quote |
| ALS2CL Knockout HeLa Cell Line | EDJ-KQ39927 | Human | 259173 | Details Get a Quote |
| ALS2CL Knockout A-549 Cell Line | EDJ-KQ41185 | Human | 259173 | Details Get a Quote |
| ALS2CL Knockout HCT 116 Cell Line | EDJ-KQ41186 | Human | 259173 | Details Get a Quote |
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