CUX2 Gene: Cut-Like Homeobox 2
Transcriptional regulator involved in neuronal development and cancer
Gene Information Card
| Symbol | CUX2 |
|---|---|
| Full Name | Cut-Like Homeobox 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 23316 ncbi.nlm.nih.gov/gene/23316 |
| Ensembl ID | ENSG00000111249 |
| UniProt ID | O14529 |
| OMIM ID | 610648 |
| HGNC ID | 19347 |
| Aliases | CDP2, CUTL2, CUX2-AS1 |
Description
CUX2 (Cut-Like Homeobox 2) encodes a member of the homeodomain family of transcription factors. The protein contains a cut domain and a homeobox domain, and functions as a transcriptional repressor or activator depending on the cellular context. CUX2 is involved in neuronal differentiation, dendritic morphogenesis, and cell cycle regulation. Alternative splicing generates multiple isoforms with distinct functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | CUX2 overexpression promotes cell proliferation and migration via transcriptional regulation of target genes | COSMIC, NCBI |
| Colorectal cancer | CUX2 mutations and altered expression contribute to tumor progression | COSMIC, NCBI |
| Neurodevelopmental disorders | CUX2 variants are associated with intellectual disability and autism spectrum disorder | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 4.7 | Low |
| Colon | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| HCT116 (colorectal cancer) | 10.8 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 9.5 | Moderate expression |
| HEK293 (embryonic kidney) | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein.
Gain of Function (GOF)
Not well documented; overexpression in cancer may act as gain-of-function.
Dominant Negative (DN)
Not reported for CUX2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Transcriptional misregulation in cancer (KEGG:05202)
• Neurotrophin signaling pathway (KEGG:04722)
Protein Summary
The CUX2 protein (UniProt O14529) is a 1486-amino acid transcription factor with a cut domain and a homeobox domain. It localizes to the nucleus and regulates gene expression by binding to specific DNA sequences. Isoforms generated by alternative splicing have distinct N-termini and may exhibit different transcriptional activities. The protein is involved in neuronal development and cell cycle control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CUX2 Knockout HEK293 Cell Line | EDJ-KQ1672 | Human | 23316 | Details Get a Quote |
| CUX2 Knockout HeLa Cell Line | EDJ-KQ55718 | Human | 23316 | Details Get a Quote |
| CUX2 Knockout A-549 Cell Line | EDJ-KQ64217 | Human | 23316 | Details Get a Quote |
| CUX2 Knockout HCT 116 Cell Line | EDJ-KQ72662 | Human | 23316 | Details Get a Quote |
