POM121L2
POM121 transmembrane nucleoporin like 2
Gene Information Card
| Symbol | POM121L2 |
|---|---|
| Full Name | POM121 transmembrane nucleoporin like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 100132288 ncbi.nlm.nih.gov/gene/100132288 |
| Ensembl ID | ENSG00000204574 |
| UniProt ID | A6NGS2 |
| OMIM ID | 619098 |
| HGNC ID | 33786 |
| Aliases | POM121L, POM121-like, dJ1009E9.1 |
Description
POM121L2 is a protein-coding gene that encodes a component of the nuclear pore complex (NPC). The protein is a transmembrane nucleoporin localized to the nuclear envelope and is involved in nucleocytoplasmic transport. It is a paralog of POM121 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.4 | Low expression |
| HeLa | 2.9 | Low expression |
| K562 | 1.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | 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 |
| • integral component of nuclear inner membrane |
Pathways
• Nuclear pore complex (NPC) assembly
• Transport of mature mRNA to cytoplasm
Protein Summary
POM121L2 is a transmembrane protein that localizes to the nuclear pore complex. It shares structural similarity with POM121 and is thought to play a role in anchoring the NPC to the nuclear envelope. Its expression is low in most tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POM121L2 Knockout HEK293 Cell Line | EDJ-KQ11275 | Human | 94026 | Details Get a Quote |
| POM121L2 Knockout HeLa Cell Line | EDJ-KQ57875 | Human | 94026 | Details Get a Quote |
| POM121L2 Knockout A-549 Cell Line | EDJ-KQ66371 | Human | 94026 | Details Get a Quote |
| POM121L2 Knockout HCT 116 Cell Line | EDJ-KQ74795 | Human | 94026 | Details Get a Quote |
