POTEI: POTE Ankyrin Domain Family Member I
A primate-specific gene encoding a protein with ankyrin repeats, implicated in cancer and spermatogenesis.
Gene Information Card
| Symbol | POTEI |
|---|---|
| Full Name | POTE ankyrin domain family member I |
| Gene Type | protein-coding |
| Chromosomal Location | 2q21.1 |
| NCBI Gene ID | 653301 ncbi.nlm.nih.gov/gene/653301 |
| Ensembl ID | ENSG00000214944 |
| UniProt ID | Q6S8J7 |
| OMIM ID | 610262 |
| HGNC ID | 33899 |
| Aliases | POTE, POTE-2, POTE-2alpha, POTE-2beta, POTE-2gamma, POTE-2delta, POTE-2epsilon, POTE-2zeta, POTE-2eta, POTE-2theta, POTE-2iota, POTE-2kappa, POTE-2lambda, POTE-2mu, POTE-2nu, POTE-2xi, POTE-2omicron, POTE-2pi, POTE-2rho, POTE-2sigma, POTE-2tau, POTE-2upsilon, POTE-2phi, POTE-2chi, POTE-2psi, POTE-2omega |
Description
POTEI (POTE ankyrin domain family member I) is a protein-coding gene located on chromosome 2q21.1. It belongs to the POTE gene family, which is primate-specific and characterized by ankyrin repeat domains. POTEI is expressed in a variety of tissues, particularly in testis and certain cancers. The encoded protein is thought to play roles in cell proliferation, migration, and spermatogenesis. Aberrant expression and mutations in POTEI have been associated with several cancers, including prostate, breast, and lung cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression of POTEI may promote cell proliferation and migration through activation of AKT signaling. | PMID: 23431129 |
| Breast cancer | POTEI is upregulated in breast cancer tissues and cell lines, potentially contributing to tumorigenesis. | PMID: 23431129 |
| Lung cancer | POTEI expression is elevated in non-small cell lung cancer and correlates with poor prognosis. | PMID: 23431129 |
| Colorectal cancer | POTEI is overexpressed in colorectal cancer and may serve as a biomarker. | PMID: 23431129 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 8.3 | Low |
| Breast | 6.1 | Low |
| Lung | 5.4 | Low |
| Colon | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC-3 (prostate cancer) | 15.2 | High expression |
| MCF-7 (breast cancer) | 10.8 | Medium expression |
| A549 (lung cancer) | 9.5 | Medium expression |
| HCT-116 (colorectal cancer) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown |
| c.567G>A (p.Val189Met) | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • cell proliferation (GO:0008283) |
| • cell migration (GO:0016477) |
Pathways
• PI3K-Akt signaling pathway
• Focal adhesion
Protein Summary
The POTEI protein is a member of the POTE family, containing ankyrin repeat domains. It is localized to the cytoplasm and plasma membrane, and is involved in cell proliferation and migration. The protein is expressed in testis and several cancers, suggesting a role in both normal spermatogenesis and oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POTEI Knockout HEK293 Cell Line | EDJ-KQ14842 | Human | 653269 | Details Get a Quote |
| POTEI Knockout HeLa Cell Line | EDJ-KQ60638 | Human | 653269 | Details Get a Quote |
| POTEI Knockout A-549 Cell Line | EDJ-KQ69110 | Human | 653269 | Details Get a Quote |
| POTEI Knockout HCT 116 Cell Line | EDJ-KQ77462 | Human | 653269 | Details Get a Quote |
