LUC7L2 Gene - LUC7 Like 2 Pre-mRNA Splicing Factor
Comprehensive genomic and functional annotation of LUC7L2, a component of the U1 snRNP spliceosomal complex involved in RNA splicing and linked to hematological malignancies.
Gene Information Card
| Symbol | LUC7L2 |
|---|---|
| Full Name | LUC7 Like 2 Pre-mRNA Splicing Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 51631 ncbi.nlm.nih.gov/gene/51631 |
| Ensembl ID | ENSG00000146950 |
| UniProt ID | Q9Y383 |
| OMIM ID | 616480 |
| HGNC ID | 19858 |
| Aliases | CGI-59, LUC7B2, hLuc7B2 |
Description
LUC7L2 encodes a protein component of the U1 small nuclear ribonucleoprotein (snRNP) complex, which is essential for pre-mRNA splicing. The protein contains a serine/arginine-rich (SR) domain and a zinc finger motif, and is involved in recognition of the 5' splice site. LUC7L2 is ubiquitously expressed and has been implicated in the regulation of alternative splicing. Somatic mutations and altered expression of LUC7L2 are recurrently observed in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), suggesting a role in hematopoietic malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myelodysplastic Syndrome | Somatic mutations (e.g., frameshift, missense) in LUC7L2 are associated with altered RNA splicing of key hematopoietic regulators, contributing to dysplastic hematopoiesis. | COSMIC, ClinVar, PMID: 25786123 |
| Acute Myeloid Leukemia | Recurrent LUC7L2 mutations (e.g., p.Arg50*) are found in AML, potentially leading to loss of splicing fidelity and promoting leukemogenesis. | COSMIC, ClinVar, PMID: 25786123 |
| Chronic Lymphocytic Leukemia | Rare somatic variants reported; functional impact under investigation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lymph Node | 9.2 | Medium |
| Testis | 8.7 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
| Liver | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 14.2 | High expression |
| HEK293 (embryonic kidney) | 11.5 | Medium expression |
| HeLa (cervical cancer) | 9.8 | Medium expression |
| A549 (lung cancer) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.148C>T (p.Arg50*) | Nonsense | 0.5% in MDS/AML | Loss of function; truncated protein lacking SR domain |
| c.287_288del (p.Val96Glyfs*12) | Frameshift | 0.3% in MDS | Loss of function; premature stop codon |
| c.421G>A (p.Glu141Lys) | Missense | <0.1% | Unknown; possibly damaging (PolyPhen-2 prediction) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg50*, p.Val96Glyfs*12) result in truncated proteins lacking functional domains, leading to haploinsufficiency or loss of splicing activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations in LUC7L2.
Dominant Negative (DN)
Not established; however, truncated proteins may interfere with U1 snRNP assembly in a dominant-negative manner, though this requires further validation.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing (GO:0008380) | • via spliceosome (GO:0000398) |
| • U1 snRNP binding (GO:0030619) | • zinc ion binding (GO:0008270) |
| • nucleus (GO:0005634) | • spliceosomal complex (GO:0005681) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
The LUC7L2 protein (UniProt Q9Y383) is a 396-amino acid component of the U1 snRNP complex. It contains an N-terminal arginine/serine-rich (RS) domain and a C-terminal C2H2-type zinc finger domain. The RS domain mediates protein-protein interactions within the spliceosome, while the zinc finger may contribute to RNA binding. LUC7L2 is involved in 5' splice site recognition and alternative splicing regulation. Loss-of-function mutations are associated with MDS and AML.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LUC7L2 Knockout HEK293 Cell Line | EDJ-KQ10473 | Human | 51631 | Details Get a Quote |
| LUC7L2 Knockout A-549 Cell Line | EDJ-KQ39182 | Human | 51631 | Details Get a Quote |
| LUC7L2 Knockout HCT 116 Cell Line | EDJ-KQ39184 | Human | 51631 | Details Get a Quote |
| LUC7L2 Knockout HeLa Cell Line | EDJ-KQ39185 | Human | 51631 | Details Get a Quote |
| FMC1-LUC7L2 Knockout HEK293 Cell Line | EDJ-KQ52519 | Human | 100996928 | Details Get a Quote |
| FMC1-LUC7L2 Knockout HeLa Cell Line | EDJ-KQ60989 | Human | 100996928 | Details Get a Quote |
| FMC1-LUC7L2 Knockout A-549 Cell Line | EDJ-KQ69463 | Human | 100996928 | Details Get a Quote |
| FMC1-LUC7L2 Knockout HCT 116 Cell Line | EDJ-KQ77814 | Human | 100996928 | Details Get a Quote |
