POTEE Gene
POTE Ankyrin Domain Family Member E
Gene Information Card
| Symbol | POTEE |
|---|---|
| Full Name | POTE ankyrin domain family member E |
| Gene Type | protein-coding |
| Chromosomal Location | 2q21.1 |
| NCBI Gene ID | 445582 ncbi.nlm.nih.gov/gene/445582 |
| Ensembl ID | ENSG00000183337 |
| UniProt ID | Q6S8J3 |
| OMIM ID | 608912 |
| HGNC ID | 33899 |
| Aliases | POTE14, CTD-2020K17.1, POTE-2, POTE-2alpha |
Description
POTEE (POTE ankyrin domain family member E) is a protein-coding gene located on chromosome 2q21.1. It belongs to the POTE gene family, which is characterized by ankyrin repeat domains and is expressed primarily in prostate, ovary, testis, and placenta. The encoded protein is involved in cell proliferation and may play a role in cancer development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression of POTEE may promote tumor growth through ankyrin-mediated signaling | NCBI Gene, COSMIC |
| Ovarian cancer | Elevated expression observed in ovarian tumor tissues | NCBI Gene, COSMIC |
| Testicular germ cell tumors | POTEE expression detected in germ cell neoplasms | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 12.5 | Medium |
| Ovary | 8.3 | Low |
| Testis | 15.2 | Medium |
| Placenta | 10.1 | Medium |
| Breast | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC-3 (prostate cancer) | 18.7 | High expression |
| OVCAR-3 (ovarian cancer) | 9.5 | Moderate expression |
| NTERA-2 (testicular embryonal carcinoma) | 22.1 | High expression |
| MCF-7 (breast cancer) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | missense | 0.02% (COSMIC) | Unknown functional effect |
| c.567_568insC | frameshift insertion | <0.01% (COSMIC) | Predicted loss of function |
| c.890T>C | missense | 0.01% (COSMIC) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertion c.567_568insC likely leads to premature truncation and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations currently documented in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • metal ion binding (GO:0046872) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
Pathways
• PI3K-Akt signaling pathway (Reactome)
• Ankyrin repeat-mediated signaling (UniProt)
Protein Summary
The POTEE protein contains ankyrin repeat domains, which mediate protein-protein interactions. It is localized in the cytoplasm and nucleus and is implicated in cell proliferation. Expression is enriched in prostate, ovary, testis, and placenta, with overexpression noted in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POTEE Knockout HEK293 Cell Line | EDJ-KQ14841 | Human | 445582 | Details Get a Quote |
| POTEE Knockout HeLa Cell Line | EDJ-KQ60465 | Human | 445582 | Details Get a Quote |
| POTEE Knockout A-549 Cell Line | EDJ-KQ68934 | Human | 445582 | Details Get a Quote |
| POTEE Knockout HCT 116 Cell Line | EDJ-KQ77294 | Human | 445582 | Details Get a Quote |
