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23 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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LUC7L2
LUC7 like 2, pre-mRNA splicing factor
Chromosome 7 · 7q34
NCBI Gene: 51631Ensembl: ENSG00000146963.19HGNC: HGNC:21608UniProt: Q9Y383
171PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingenzyme bindingprotein bindingnuclear speckchronic venous hypertensionUsher syndromeneurodegenerative diseasenasopharyngeal carcinoma
✦AI Summary

LUC7L2 is a pre-mRNA splicing factor that functions as a U1 snRNP-associated protein involved in 5' splice site recognition and selection 1. The protein binds RNA through its arginine-serine-rich domain and preferentially enhances splicing of "right-handed" 5' splice sites with stronger consensus sequences on the intron side 2. Mechanistically, LUC7L2 regulates alternative splicing of multiple genes involved in cellular metabolism, including the glycolytic enzyme PFKM and the cystine/glutamate antiporter SLC7A11, thereby repressing oxidative phosphorylation and promoting glycolysis 3. LUC7L2 also mediates intron retention of MLH1, a mismatch repair gene, which can be upregulated via histone H3K9 lactylation to confer temozolomide resistance in glioblastoma 4. Loss or mutation of LUC7L2 is clinically significant in myeloid malignancies, where it functions as a haploinsufficient tumor suppressor gene on chromosome 7 5. Recurrent LUC7L2 mutations and deletions are identified in myelodysplastic syndromes and acute myeloid leukemia 6. The gene also shows selective essentiality in chordoma 7. LUC7L2's dysregulation contributes to aberrant splicing networks in hematologic malignancies 8.

Sources cited
1
LUC7L2 is a U1 snRNP-associated splicing factor that binds to weak 5' splice sites through its arginine-serine-rich domain
PMID: 33852859
2
LUC7L2 differentially regulates 5' splice sites and enhances splicing of 'right-handed' 5'SS with stronger consensus matching on the intron side
PMID: 39979239
3
LUC7L2 represses OXPHOS and promotes glycolysis by regulating splicing of PFKM and SLC7A11
PMID: 33852893
4
LUC7L2-mediated intron 7 retention of MLH1 confers temozolomide resistance in glioblastoma
PMID: 38477507
5
LUC7L2 is a haploinsufficient tumor suppressor gene on chromosome 7q implicated in myeloid malignancies
PMID: 35084368
6
LUC7L2 deletions and mutations are involved in pathogenesis of myelodysplastic syndromes
PMID: 31093808
7
LUC7L2 is identified as a selectively essential gene in chordoma cells
PMID: 37024492
8
LUC7L2 is a spliceosome component whose mutations induce aberrant alternative splicing in hematologic malignancies
PMID: 38760666
Disease Associationsⓘ20
chronic venous hypertensionOpen Targets
0.27Weak
Usher syndromeOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.18Weak
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
acute myeloid leukemiaOpen Targets
0.05Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
liver cancerOpen Targets
0.02Suggestive
myeloid neoplasmOpen Targets
0.01Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
myelodysplastic syndromeOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
viral diseaseOpen Targets
0.01Suggestive
chordomaOpen Targets
0.01Suggestive
Miyoshi myopathyOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
brain diseaseOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
encephalitisOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KHDC4Shared pathway100%SF3B3Protein interaction100%DDX46Protein interaction100%SART1Protein interaction100%SNRPGProtein interaction100%SF3A2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
55%
Ovary
54%
Liver
51%
Lung
41%
Heart
32%
Gene Interaction Network
Click a node to explore
LUC7L2KHDC4SF3B3DDX46SART1SNRPGSF3A2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y383
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.36–0.70]
RankingsWhere LUC7L2 stands among ~20K protein-coding genes
  • #2,579of 20,598
    Most Researched171 · top quartile
  • #5,290of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedLUC7L2
Sources retrieved23 papers
Response time—
📄 Sources
23▼
1
Histone H3K9 Lactylation Confers Temozolomide Resistance in Glioblastoma via LUC7L2-Mediated MLH1 Intron Retention.
PMID: 38477507
Adv Sci (Weinh) · 2024
1.00
2
Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS.
PMID: 33852893
Mol Cell · 2021
0.90
3
The significance of CUX1 and chromosome 7 in myeloid malignancies.
PMID: 35084368
Curr Opin Hematol · 2022
0.80
4
Genetic abnormalities and pathophysiology of MDS.
PMID: 31093808
Int J Clin Oncol · 2019
0.70
5
Evidence for a direct role of the disease modifier SCNM1 in splicing.
PMID: 17656373
Hum Mol Genet · 2007
0.61