POM121: POM121 Transmembrane Nucleoporin
A key component of the nuclear pore complex involved in nuclear transport and implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | POM121 |
|---|---|
| Full Name | POM121 transmembrane nucleoporin |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 9883 ncbi.nlm.nih.gov/gene/9883 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | Q96HA1 |
| OMIM ID | 615753 |
| HGNC ID | 14372 |
| Aliases | POM121A, POM121 membrane glycoprotein, KIAA0618 |
Description
POM121 encodes a transmembrane nucleoporin that is a structural component of the nuclear pore complex (NPC). It anchors the NPC to the nuclear envelope and is essential for nuclear transport. The gene is located on chromosome 7q11.23 and is expressed in multiple tissues. Alterations in POM121 have been associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression and gene fusions (e.g., POM121–ZNF198) may drive oncogenesis by disrupting nuclear transport and gene regulation. | COSMIC, ClinVar |
| Developmental disorders (e.g., intellectual disability) | De novo missense and loss-of-function variants in POM121 are implicated in neurodevelopmental phenotypes. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Heart | 10.1 | Medium |
| Lung | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line |
| K562 | 18.7 | Leukemia cell line |
| A549 | 14.2 | Lung cancer cell line |
| HepG2 | 11.5 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.02% | Loss of function |
| c.1567G>A (p.Gly523Arg) | Missense | 0.01% | Unknown functional impact |
| POM121–ZNF198 fusion | Gene fusion | Rare | Oncogenic (gain of function) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the protein, likely impairing NPC assembly and nuclear transport.
Gain of Function (GOF)
Gene fusions (e.g., POM121–ZNF198) that create chimeric proteins with altered localization or activity, contributing to oncogenesis.
Dominant Negative (DN)
Not well characterized; some missense variants may disrupt NPC function in a dominant manner.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nuclear envelope |
| • protein transport | • mRNA export from nucleus |
| • nucleocytoplasmic transport |
Pathways
• Nuclear Pore Complex (NPC) assembly
• Nucleocytoplasmic transport
• Cell cycle
Protein Summary
POM121 is a 1,189-amino acid transmembrane protein that localizes to the nuclear pore complex. It contains a nucleoporin domain and is involved in anchoring the NPC to the nuclear membrane. The protein is essential for proper nuclear transport and has been implicated in cancer through overexpression and gene fusions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POM121 Knockout HEK293 Cell Line | EDJ-KQ2851 | Human | 9883 | Details Get a Quote |
| POM121L2 Knockout HEK293 Cell Line | EDJ-KQ11275 | Human | 94026 | Details Get a Quote |
| POM121C Knockout HEK293 Cell Line | EDJ-KQ12157 | Human | 100101267 | Details Get a Quote |
| POM121L12 Knockout HEK293 Cell Line | EDJ-KQ14832 | Human | 285877 | Details Get a Quote |
| POM121 Knockout A-549 Cell Line | EDJ-KQ22488 | Human | 9883 | Details Get a Quote |
| POM121 Knockout HCT 116 Cell Line | EDJ-KQ23857 | Human | 9883 | Details Get a Quote |
| POM121 Knockout HeLa Cell Line | EDJ-KQ23858 | Human | 9883 | Details Get a Quote |
| POM121C Knockout A-549 Cell Line | EDJ-KQ39605 | Human | 100101267 | Details Get a Quote |
| POM121C Knockout HCT 116 Cell Line | EDJ-KQ40851 | Human | 100101267 | Details Get a Quote |
| POM121C Knockout HeLa Cell Line | EDJ-KQ40852 | Human | 100101267 | Details Get a Quote |
| POM121L2 Knockout HeLa Cell Line | EDJ-KQ57875 | Human | 94026 | Details Get a Quote |
| POM121L12 Knockout HeLa Cell Line | EDJ-KQ59536 | Human | 285877 | Details Get a Quote |
| POM121L2 Knockout A-549 Cell Line | EDJ-KQ66371 | Human | 94026 | Details Get a Quote |
| POM121L12 Knockout A-549 Cell Line | EDJ-KQ68004 | Human | 285877 | Details Get a Quote |
| POM121L2 Knockout HCT 116 Cell Line | EDJ-KQ74795 | Human | 94026 | Details Get a Quote |
