NXPE4
Neurexophilin and PC-esterase domain family member 4
Gene Information Card
| Symbol | NXPE4 |
|---|---|
| Full Name | Neurexophilin and PC-esterase domain family member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 112401 ncbi.nlm.nih.gov/gene/112401 |
| Ensembl ID | ENSG00000187790 |
| UniProt ID | Q5VY09 |
| OMIM ID | 609476 |
| HGNC ID | 26299 |
| Aliases | FLJ32743, MGC35169 |
Description
NXPE4 (neurexophilin and PC-esterase domain family member 4) is a protein-coding gene located on chromosome 11q23.3. It encodes a member of the neurexophilin family, which is thought to be involved in cell-cell interactions and signaling. The protein contains a PC-esterase domain, suggesting potential enzymatic activity. Expression is enriched in brain tissues, particularly in the cerebellum and cerebral cortex. Limited functional studies exist, but the gene is conserved across vertebrates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations confirmed | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Cerebral cortex | 8.3 | Low |
| Testis | 3.1 | Low |
| Heart | 1.2 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 2.1 | Neuroblastoma cell line |
| U-87 MG | 1.8 | Glioblastoma cell line |
| HEK 293 | 0.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: hydrolase activity (GO:0016787) | • Biological process: cell adhesion (GO:0007155) |
| • Cellular component: extracellular region (GO:0005576) |
Protein Summary
The NXPE4 protein (UniProt Q5VY09) is 363 amino acids long and contains a signal peptide and a PC-esterase domain. It is predicted to be secreted or membrane-associated. The protein may function in neural development or synaptic modulation, but detailed biochemical characterization is lacking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NXPE4 Knockout HEK293 Cell Line | EDJ-KQ14535 | Human | 54827 | Details Get a Quote |
| NXPE4 Knockout HeLa Cell Line | EDJ-KQ56479 | Human | 54827 | Details Get a Quote |
| NXPE4 Knockout A-549 Cell Line | EDJ-KQ64971 | Human | 54827 | Details Get a Quote |
| NXPE4 Knockout HCT 116 Cell Line | EDJ-KQ73417 | Human | 54827 | Details Get a Quote |
