POTEH Gene - POTE Ankyrin Domain Family Member H
A primate-specific gene encoding a protein with ankyrin repeats, involved in testis expression and potential roles in cancer.
Gene Information Card
| Symbol | POTEH |
|---|---|
| Full Name | POTE ankyrin domain family member H |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.22 |
| NCBI Gene ID | 84630 ncbi.nlm.nih.gov/gene/84630 |
| Ensembl ID | ENSG00000185736 |
| UniProt ID | Q6S8J3 |
| OMIM ID | 610262 |
| HGNC ID | 33899 |
| Aliases | POTE14, CTD-2015H6.1 |
Description
POTEH (POTE ankyrin domain family member H) is a protein-coding gene located on chromosome 22q11.22. It belongs to the POTE gene family, which is primate-specific and characterized by ankyrin repeat domains. POTEH is predominantly expressed in testis and is also detected in certain cancer cell lines. The encoded protein may play a role in cell proliferation and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression of POTEH may contribute to tumor growth; ankyrin repeats involved in protein-protein interactions | COSMIC; literature |
| Breast cancer | Elevated expression in breast cancer cell lines; potential oncogenic role | COSMIC; literature |
| Ovarian cancer | Expression detected in ovarian cancer tissues; functional role unclear | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 1.2 | Low |
| Breast | 0.8 | Low |
| Ovary | 0.6 | Low |
| Lung | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.4 | Cervical cancer cell line |
| MCF7 | 6.2 | Breast cancer cell line |
| LNCaP | 5.1 | Prostate cancer cell line |
| A549 | 2.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | p.Arg412Cys; unknown significance |
| c.567delA | Frameshift | <0.1% | Predicted loss of function |
| c.890G>A | Synonymous | <0.1% | No amino acid change |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delA) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations reported in POTEH.
Dominant Negative (DN)
No dominant-negative mutations reported in POTEH.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• No specific pathways curated for POTEH in major databases.
Protein Summary
The POTEH protein (UniProt Q6S8J3) contains ankyrin repeat domains, which mediate protein-protein interactions. It is localized to the cytoplasm and nucleus. The protein is expressed in testis and in several cancer cell lines, suggesting a potential role in cell proliferation and oncogenesis. The exact biological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POTEH Knockout HEK293 Cell Line | EDJ-KQ51131 | Human | 23784 | Details Get a Quote |
| POTEH Knockout HeLa Cell Line | EDJ-KQ55806 | Human | 23784 | Details Get a Quote |
| POTEH Knockout A-549 Cell Line | EDJ-KQ64301 | Human | 23784 | Details Get a Quote |
| POTEH Knockout HCT 116 Cell Line | EDJ-KQ72752 | Human | 23784 | Details Get a Quote |
