LCORL: Ligand-Dependent Corepressor-Like, a Transcriptional Regulator in Growth and Development
Comprehensive genomic and functional overview of LCORL, a gene associated with stature, body size, and cancer.
Gene Information Card
| Symbol | LCORL |
|---|---|
| Full Name | Ligand Dependent Corepressor Like |
| Gene Type | Protein coding |
| Chromosomal Location | 4p15.31 |
| NCBI Gene ID | 254251 ncbi.nlm.nih.gov/gene/254251 |
| Ensembl ID | ENSG00000138669 |
| UniProt ID | Q8N3X6 |
| OMIM ID | 614147 |
| HGNC ID | 29517 |
| Aliases | MLR1, FLJ12529, dJ1042K10.4 |
Description
LCORL encodes a ligand-dependent corepressor-like protein that functions as a transcriptional regulator. It interacts with nuclear receptors and other transcription factors to repress gene expression. Genome-wide association studies (GWAS) have linked LCORL variants to human height, body size, and skeletal development. The gene is also implicated in various cancers, where altered expression may influence cell proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Stature/Height variation | GWAS-identified variants in LCORL are associated with adult height, likely through modulation of growth-related transcriptional programs. | Multiple GWAS (e.g., Lango Allen et al., Nature 2010; Wood et al., Nat Genet 2014) |
| Prostate cancer | LCORL expression is altered in prostate tumors; may act as a corepressor of androgen receptor signaling. | TCGA data; COSMIC mutation analysis |
| Breast cancer | LCORL copy number alterations and expression changes observed in breast cancer cell lines and tumors. | COSMIC; cBioPortal studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Adipose tissue | 10.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Thyroid | 7.1 | Low |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 12.1 | Moderate expression |
| LNCaP (prostate cancer) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 6.5 | Low expression |
| HepG2 (liver cancer) | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift | <0.001% | Predicted loss-of-function |
| c.890G>A (p.Arg297Gln) | Missense | 0.02% | Reported in COSMIC; potential impact on corepressor activity |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of corepressor function, potentially disrupting transcriptional regulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; missense variants may alter protein interactions but evidence is limited.
Dominant Negative (DN)
Not established for LCORL; no dominant-negative mechanisms have been described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT: Nuclear Receptor Transcription Pathway
• WP: Androgen receptor signaling pathway
• KEGG: Transcriptional misregulation in cancer
Protein Summary
The LCORL protein (UniProt Q8N3X6) is a 612-amino-acid nuclear corepressor that contains a conserved C-terminal domain involved in protein-protein interactions. It binds to nuclear receptors and other transcription factors to repress target gene expression. LCORL is widely expressed, with highest levels in testis and adipose tissue. Structural studies suggest it may form complexes with histone deacetylases (HDACs) to mediate chromatin remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Lcorl Knockout C2C12 Cell Line | EDJ-KQ80 | Mouse | 209707 | Details Get a Quote |
| LCORL Knockout HEK293 Cell Line | EDJ-KQ2536 | Human | 254251 | Details Get a Quote |
| LCORL Knockout A-549 Cell Line | EDJ-KQ23169 | Human | 254251 | Details Get a Quote |
| LCORL Knockout HCT 116 Cell Line | EDJ-KQ23170 | Human | 254251 | Details Get a Quote |
| LCORL Knockout HeLa Cell Line | EDJ-KQ23171 | Human | 254251 | Details Get a Quote |
