POTEJ
POTE Ankyrin Domain Family Member J
Gene Information Card
| Symbol | POTEJ |
|---|---|
| Full Name | POTE ankyrin domain family member J |
| Gene Type | Protein coding |
| Chromosomal Location | 2q21.1 |
| NCBI Gene ID | 653534 ncbi.nlm.nih.gov/gene/653534 |
| Ensembl ID | ENSG00000221914 |
| UniProt ID | Q6S8J3 |
| OMIM ID | Not available |
| HGNC ID | 33894 |
| Aliases | POTE, POTEJ, POTE ankyrin domain family member J |
Description
POTEJ (POTE ankyrin domain family member J) 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 in a variety of tissues. The exact function of POTEJ is not fully characterized, but it is thought to be involved in cell signaling and structural roles. Limited data are available from curated databases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Prostate | 0.2 | Low |
| Thyroid | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.1 | Low expression |
| K562 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Protein Summary
The POTEJ protein is a member of the POTE ankyrin domain family. It contains ankyrin repeat domains, which are typically involved in protein-protein interactions. The full-length protein sequence is predicted to be 1,036 amino acids long (UniProt Q6S8J3). Its biological function remains largely uncharacterized, and no specific pathways or disease associations have been established.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POTEJ Knockout HEK293 Cell Line | EDJ-KQ14843 | Human | 653781 | Details Get a Quote |
| POTEJ Knockout HeLa Cell Line | EDJ-KQ60663 | Human | 653781 | Details Get a Quote |
| POTEJ Knockout A-549 Cell Line | EDJ-KQ69136 | Human | 653781 | Details Get a Quote |
| POTEJ Knockout HCT 116 Cell Line | EDJ-KQ77488 | Human | 653781 | Details Get a Quote |
