POMZP3 Gene - POM121 and ZP3 Fusion
POMZP3 (POM121 transmembrane nucleoporin and ZP3 fusion) is a protein-coding gene with roles in nuclear pore complex function and potential implications in cancer and reproductive biology.
Gene Information Card
| Symbol | POMZP3 |
|---|---|
| Full Name | POM121 transmembrane nucleoporin and ZP3 fusion |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 22932 ncbi.nlm.nih.gov/gene/22932 |
| Ensembl ID | ENSG00000196756 |
| UniProt ID | Q8N1D0 |
| OMIM ID | 610297 |
| HGNC ID | 17966 |
| Aliases | POM121L, ZP3P, POM121B |
Description
POMZP3 is a protein-coding gene located on chromosome 7q11.23. It encodes a fusion protein combining domains from POM121 (a transmembrane nucleoporin component of the nuclear pore complex) and ZP3 (zona pellucida glycoprotein 3). The gene is thought to be involved in nuclear pore assembly and may play roles in cell cycle regulation and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect nuclear transport and cell proliferation | Limited evidence from expression studies |
| Reproductive disorders | ZP3 domain may influence gamete interaction | Hypothetical based on domain homology |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Medium |
| Ovary | 3.8 | Low |
| Brain | 2.1 | Low |
| Lung | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.0 | Moderate expression |
| HEK293 | 3.5 | Moderate expression |
| K562 | 2.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.1% | Unknown |
| c.567_568insA | frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of nuclear pore function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • membrane |
| • protein binding | • structural constituent of nuclear pore |
Pathways
• Nuclear pore complex assembly
• Cell cycle
Protein Summary
The POMZP3 protein is a fusion of POM121 and ZP3 domains. It localizes to the nuclear envelope and is predicted to function in nuclear pore complex assembly and maintenance. The ZP3 domain may mediate interactions with extracellular matrix or gamete surface proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POMZP3 Knockout HEK293 Cell Line | EDJ-KQ51071 | Human | 22932 | Details Get a Quote |
| POMZP3 Knockout HeLa Cell Line | EDJ-KQ55659 | Human | 22932 | Details Get a Quote |
| POMZP3 Knockout A-549 Cell Line | EDJ-KQ64159 | Human | 22932 | Details Get a Quote |
| POMZP3 Knockout HCT 116 Cell Line | EDJ-KQ72605 | Human | 22932 | Details Get a Quote |
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