NUP62CL
Nucleoporin 62 C-Terminal Like
Gene Information Card
| Symbol | NUP62CL |
|---|---|
| Full Name | Nucleoporin 62 C-Terminal Like |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 54830 ncbi.nlm.nih.gov/gene/54830 |
| Ensembl ID | ENSG00000119912 |
| UniProt ID | Q9BVL2 |
| OMIM ID | 619846 |
| HGNC ID | 24924 |
| Aliases | NUP62L, NUP62CL1 |
Description
NUP62CL (nucleoporin 62 C-terminal like) is a protein-coding gene located on chromosome 10q24.31. It encodes a component of the nuclear pore complex, which mediates nucleocytoplasmic transport. The protein shares similarity with the C-terminal region of NUP62 and is involved in maintaining nuclear pore structure and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic mutations | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • protein binding |
Pathways
• Nuclear pore complex assembly
• Nucleocytoplasmic transport
Protein Summary
The NUP62CL protein is a 476-amino acid nucleoporin with a molecular weight of approximately 53 kDa. It contains a coiled-coil domain and localizes to the nuclear pore complex. Its exact function is not fully characterized, but it is thought to contribute to nuclear pore stability and transport regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP62CL Knockout HEK293 Cell Line | EDJ-KQ14521 | Human | 54830 | Details Get a Quote |
| NUP62CL Knockout A-549 Cell Line | EDJ-KQ44806 | Human | 54830 | Details Get a Quote |
| NUP62CL Knockout HCT 116 Cell Line | EDJ-KQ44807 | Human | 54830 | Details Get a Quote |
| NUP62CL Knockout HeLa Cell Line | EDJ-KQ44808 | Human | 54830 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
