LUZP2
Leucine Zipper Protein 2
Gene Information Card
| Symbol | LUZP2 |
|---|---|
| Full Name | Leucine Zipper Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p14.3 |
| NCBI Gene ID | 116064 ncbi.nlm.nih.gov/gene/116064 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q86X29 |
| OMIM ID | 608615 |
| HGNC ID | 24978 |
| Aliases | KIAA1477, FLJ23577 |
Description
LUZP2 (Leucine Zipper Protein 2) is a protein-coding gene located on chromosome 11p14.3. It encodes a protein containing a leucine zipper motif, suggesting a role in transcriptional regulation or protein-protein interactions. Expression is enriched in brain and testis. Limited functional characterization; implicated in neurodevelopmental processes and potential tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Potential role in neuronal differentiation; altered expression may disrupt development | Limited; expression studies in brain tissues |
| Cancer (e.g., glioma, breast) | Possible tumor suppressor; downregulation observed in some tumors | Expression profiling; COSMIC mutation data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 2.1 | Low |
| Liver | 1.0 | Low |
| Kidney | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 3.4 | Low expression |
| HeLa (cervical carcinoma) | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Premature truncation; loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Premature truncation; loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <0.1% | Unknown; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (p.Arg412*, p.Trp189*) lead to truncated protein; likely loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • protein homodimerization activity (GO:0042803) |
| • nucleus (GO:0005634) | • regulation of transcription by RNA polymerase II (GO:0006357) |
Pathways
• Not assigned to any curated pathway
Protein Summary
LUZP2 encodes a 674-amino acid protein with a leucine zipper domain, indicative of dimerization and DNA-binding potential. Predicted to localize to the nucleus and function as a transcription factor. Expression is highest in brain and testis. Limited experimental data; structural homology suggests involvement in cell differentiation and development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LUZP2 Knockout HEK293 Cell Line | EDJ-KQ12087 | Human | 338645 | Details Get a Quote |
| LUZP2 Knockout HeLa Cell Line | EDJ-KQ40747 | Human | 338645 | Details Get a Quote |
| LUZP2 Knockout A-549 Cell Line | EDJ-KQ68082 | Human | 338645 | Details Get a Quote |
| LUZP2 Knockout HCT 116 Cell Line | EDJ-KQ76457 | Human | 338645 | Details Get a Quote |
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