POTEF Gene (POTE Ankyrin Domain Family Member F)
A primate-specific gene encoding a protein with ankyrin repeats, involved in testis and cancer expression.
Gene Information Card
| Symbol | POTEF |
|---|---|
| Full Name | POTE ankyrin domain family member F |
| Gene Type | Protein coding |
| Chromosomal Location | 2q21.1 |
| NCBI Gene ID | 728378 ncbi.nlm.nih.gov/gene/728378 |
| Ensembl ID | ENSG00000197837 |
| UniProt ID | Q6S8J3 |
| OMIM ID | 610910 |
| HGNC ID | 33889 |
| Aliases | POTE-2, ANKRD26-like, CTD-2020K13.1 |
Description
POTEF (POTE ankyrin domain family member F) is a primate-specific gene belonging to the POTE gene family, which encodes proteins containing ankyrin repeats and a spectrin-like domain. The gene is predominantly expressed in testis and is also aberrantly expressed in various cancers, classifying it as a cancer-testis antigen. POTEF is located on chromosome 2q21.1 and spans approximately 30 kb. The protein product is thought to be involved in cytoskeletal organization and cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression of POTEF in prostate tumors suggests a role as a cancer-testis antigen; potential immune target. | PubMed: 17332331 |
| Breast cancer | Elevated POTEF expression detected in breast cancer cell lines and tissues; may contribute to tumor progression. | PubMed: 17332331 |
| Lung cancer | POTEF transcripts found in lung cancer samples; mechanism unclear. | COSMIC: POTEF |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 1.2 | Low |
| Breast | 0.8 | Low |
| Lung | 0.5 | Low |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 3.4 | Moderate expression |
| PC3 (prostate cancer) | 2.1 | Low expression |
| A549 (lung cancer) | 1.8 | Low expression |
| HEK293 (embryonic kidney) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Cys; unknown functional impact |
| c.567_568insA | Frameshift | <0.01% | Predicted loss of function |
| c.890G>A | Synonymous | 0.02% | No amino acid change |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertion c.567_568insA likely leads to premature stop codon and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytoskeleton (GO:0005856) | • identical protein binding (GO:0042802) |
Pathways
• No curated pathways in Reactome or KEGG for POTEF.
Protein Summary
The POTEF protein (UniProt Q6S8J3) is a 1072-amino acid polypeptide containing multiple ankyrin repeats and a C-terminal spectrin-like domain. It is localized to the cytoplasm and may interact with cytoskeletal components. The protein is expressed primarily in testis and is aberrantly activated in several cancers, suggesting a role as a cancer-testis antigen. Its exact biological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POTEF Knockout HEK293 Cell Line | EDJ-KQ11975 | Human | 728378 | Details Get a Quote |
| POTEF Knockout HeLa Cell Line | EDJ-KQ60706 | Human | 728378 | Details Get a Quote |
| POTEF Knockout A-549 Cell Line | EDJ-KQ69178 | Human | 728378 | Details Get a Quote |
| POTEF Knockout HCT 116 Cell Line | EDJ-KQ77532 | Human | 728378 | Details Get a Quote |
