POM121L12
POM121 transmembrane nucleoporin like 12
Gene Information Card
| Symbol | POM121L12 |
|---|---|
| Full Name | POM121 transmembrane nucleoporin like 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 100287596 ncbi.nlm.nih.gov/gene/100287596 |
| Ensembl ID | ENSG00000206053 |
| UniProt ID | A0A1B0GTV4 |
| OMIM ID | - |
| HGNC ID | 33780 |
| Aliases | POM121-like 12, POM121L |
Description
POM121L12 is a protein-coding gene that encodes a member of the POM121 family of nucleoporins, which are components of the nuclear pore complex. The protein is involved in nuclear transport and may play a role in nuclear envelope integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | - | - |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Brain | 0.1 | Low |
| Lung | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
| HeLa | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations in COSMIC | - | - | - |
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：
Protein Summary
The POM121L12 protein is a predicted nucleoporin with a transmembrane domain, likely localized to the nuclear envelope. Its exact function remains uncharacterized, but it may contribute to nuclear pore complex assembly or transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POM121L12 Knockout HEK293 Cell Line | EDJ-KQ14832 | Human | 285877 | Details Get a Quote |
| POM121L12 Knockout HeLa Cell Line | EDJ-KQ59536 | Human | 285877 | Details Get a Quote |
| POM121L12 Knockout A-549 Cell Line | EDJ-KQ68004 | Human | 285877 | Details Get a Quote |
| POM121L12 Knockout HCT 116 Cell Line | EDJ-KQ76382 | Human | 285877 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
