XKR6: XK-Related Protein 6
A member of the XK family of putative membrane transport proteins with limited functional characterization.
Gene Information Card
| Symbol | XKR6 |
|---|---|
| Full Name | XK-related protein 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 286046 ncbi.nlm.nih.gov/gene/286046 |
| Ensembl ID | ENSG00000156170 |
| UniProt ID | Q5VYV7 |
| OMIM ID | 611126 |
| HGNC ID | 27823 |
| Aliases | XK-related protein 6, XK6 |
Description
XKR6 (XK-related protein 6) is a protein-coding gene located on chromosome 8p23.1. It belongs to the XK family of putative membrane transport proteins, which are characterized by a conserved XK domain. The precise biological function of XKR6 remains poorly understood, but it is predicted to be involved in membrane transport processes. Expression data suggest broad but low-level expression across multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in OMIM, ClinVar, or COSMIC as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 1.5 | Low |
| Kidney | 1.9 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.5 | Low expression |
| K562 | 2.0 | Low expression |
| HeLa | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • membrane (GO:0016020) | • integral component of membrane (GO:0016021) |
Protein Summary
XKR6 encodes a 367-amino acid protein with a predicted molecular weight of approximately 41 kDa. The protein contains a conserved XK domain, suggesting a role in membrane transport, though no specific substrate or function has been experimentally validated. UniProt annotation indicates the protein is localized to the membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XKR6 Knockout HEK293 Cell Line | EDJ-KQ16157 | Human | 286046 | Details Get a Quote |
| XKR6 Knockout HeLa Cell Line | EDJ-KQ59543 | Human | 286046 | Details Get a Quote |
| XKR6 Knockout A-549 Cell Line | EDJ-KQ68011 | Human | 286046 | Details Get a Quote |
| XKR6 Knockout HCT 116 Cell Line | EDJ-KQ76387 | Human | 286046 | Details Get a Quote |
