HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ALS2CL
ALS2 C-terminal like
Chromosome 3 · 3p21.31
NCBI Gene: 259173Ensembl: ENSG00000178038.18HGNC: HGNC:20605UniProt: Q60I27
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsmall GTPase bindingendosomal transportcytoplasmAbnormality of the skeletal systemneurodegenerative diseaseplacenta praeviaisolated asymptomatic elevation of creatine phosphokinase
✦AI Summary

ALS2CL (ALS2 C-terminal like) is a guanine nucleotide exchange factor (GEF) for the small GTPase Rab5 that modulates endosome dynamics 1. The protein shares homology with the C-terminal region of ALS2, the causative gene for juvenile amyotrophic lateral sclerosis 1. ALS2CL exhibits specific but relatively weak Rab5-GEF activity paired with strong Rab5-binding properties, inducing characteristic tubulation of endosome compartments when co-expressed with Rab5A in cells 1. Functionally, ALS2CL exists primarily as a homodimer that interacts with ALS2 oligomers to form large heteromeric complexes, dominant-suppressing ALS2-induced endosome enlargement and generating perinuclear tubulo-membranous structures dependent on ALS2CL-ALS2 interaction 2. The protein contains the VPS9 domain characteristic of Rab5 GEFs 3. Clinically, ALS2CL has emerged as a diagnostic candidate gene for osteoporosis with concomitant sarcopenia 4 and a component of alternative splicing-based prognostic signatures for prostate cancer biochemical recurrence 5. ALS2CL is widely expressed in lacrimal functional unit tissues and other tissues 6, indicating broader physiological roles beyond motor neuron function.

Sources cited
1
ALS2CL is a Rab5 GEF with weak GEF activity but strong Rab5-binding properties that induces endosome tubulation
PMID: 15388334
2
ALS2CL forms homodimers that interact with ALS2 to suppress endosome enlargement and modulate endosome dynamics
PMID: 17239822
3
ALS2CL contains the VPS9 domain characteristic of Rab5 GEFs and modulates Rab5-mediated endosome dynamics
PMID: 16473597
4
ALS2CL is identified as a candidate hub gene for diagnosing osteoporosis combined with sarcopenia
PMID: 38831425
5
ALS2CL alternative splicing events are part of a prognostic signature for prostate cancer biochemical recurrence
PMID: 37924098
6
ALS2CL is expressed in lacrimal functional unit tissues
PMID: 18840430
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
placenta praeviaOpen Targets
0.21Weak
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.06Suggestive
agingOpen Targets
0.05Suggestive
pentosuriaOpen Targets
0.04Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.01Suggestive
osteoporosisOpen Targets
0.00Suggestive
sarcopeniaOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
head and neck squamous cell carcinomaOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
metopic craniosynostosisOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lymphomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB5AProtein interaction91%EEA1Protein interaction91%F8A1Shared pathway50%DPY30Shared pathway50%ITSN2Shared pathway50%REPS1Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Lung
94%
Heart
61%
Ovary
21%
Bone Marrow
11%
Brain
1%
Gene Interaction Network
Click a node to explore
ALS2CLRAB5AEEA1F8A1DPY30ITSN2REPS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q60I27
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.80–1.08]
RankingsWhere ALS2CL stands among ~20K protein-coding genes
  • #16,385of 20,598
    Most Researched12
  • #10,973of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedALS2CL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of shared gene signatures and pathways for diagnosing osteoporosis with sarcopenia through integrated bioinformatics analysis and machine learning.
PMID: 38831425
BMC Musculoskelet Disord · 2024
1.00
2
Comprehensive analysis of alternative splicing across multiple transcriptomic cohorts reveals prognostic signatures in prostate cancer.
PMID: 37924098
Hum Genomics · 2023
0.90
3
ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics.
PMID: 15388334
FEBS Lett · 2004
0.80
4
Unraveling epigenomic signatures and effectiveness of electroconvulsive therapy in treatment-resistant depression patients: a prospective longitudinal study.
PMID: 39020437
Clin Epigenetics · 2024
0.70
5
ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome dynamics.
PMID: 17239822
Biochem Biophys Res Commun · 2007
0.60