XKR4 Gene: XK-Related Protein 4
Comprehensive genomic and functional analysis of XKR4, a member of the XK family of putative potassium transporters.
Gene Information Card
| Symbol | XKR4 |
|---|---|
| Full Name | XK-related protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q12.1 |
| NCBI Gene ID | 286410 ncbi.nlm.nih.gov/gene/286410 |
| Ensembl ID | ENSG00000164742 |
| UniProt ID | Q5GH76 |
| OMIM ID | 615347 |
| HGNC ID | 25438 |
| Aliases | XK4, XK-related protein 4 |
Description
XKR4 (XK-related protein 4) is a protein-coding gene belonging to the XK family, which is characterized by a conserved domain involved in putative potassium transport. The gene is located on chromosome 8q12.1 and encodes a multi-pass membrane protein. XKR4 is expressed in various tissues and has been implicated in several biological processes, including ion transport and cell signaling. Mutations in XKR4 have been associated with neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and speech delay | Loss-of-function mutations in XKR4 disrupt potassium transport, affecting neuronal excitability and development. | ClinVar |
| Schizophrenia | Genetic variants in XKR4 have been linked to altered brain expression and increased risk. | NCBI Gene |
| Colorectal cancer | Somatic mutations and altered expression of XKR4 may contribute to tumor progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 5.1 | Low |
| Kidney | 4.2 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression in neuronal model |
| HEK293 (embryonic kidney) | 6.5 | Moderate expression |
| HCT116 (colorectal carcinoma) | 4.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375*) | Nonsense | Rare | Loss of function; truncates protein |
| c.456G>A (p.Trp152*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | Rare | Loss of function; frameshift and truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated, non-functional protein.
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)
| • potassium ion transport (GO:0006813) | • integral component of membrane (GO:0016021) |
| • plasma membrane (GO:0005886) |
Pathways
• Potassium transport (Reactome: R-HSA-1296071)
Protein Summary
XKR4 is a multi-pass membrane protein of 658 amino acids, belonging to the XK family. It contains a conserved XK domain that is predicted to function as a potassium transporter. The protein is localized to the plasma membrane and is involved in ion homeostasis. Structural analysis suggests it forms a channel-like structure. Expression is highest in brain, consistent with its role in neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XKR4 Knockout HEK293 Cell Line | EDJ-KQ7459 | Human | 114786 | Details Get a Quote |
| XKR4 Knockout HeLa Cell Line | EDJ-KQ57928 | Human | 114786 | Details Get a Quote |
| XKR4 Knockout A-549 Cell Line | EDJ-KQ66418 | Human | 114786 | Details Get a Quote |
| XKR4 Knockout HCT 116 Cell Line | EDJ-KQ74844 | Human | 114786 | Details Get a Quote |
