SPX Gene - SPX Domain Containing Protein
Gene encoding a protein with an SPX domain involved in phosphate homeostasis and cellular signaling.
Gene Information Card
| Symbol | SPX |
|---|---|
| Full Name | SPX domain containing protein |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 80763 ncbi.nlm.nih.gov/gene/80763 |
| Ensembl ID | ENSG00000101981 |
| UniProt ID | Q5MJ70 |
| OMIM ID | 300826 |
| HGNC ID | 28712 |
| Aliases | FLJ22662, MGC138499 |
Description
The SPX gene encodes a protein containing an SPX domain, which is involved in phosphate sensing and homeostasis. The protein is thought to play a role in cellular signaling pathways related to phosphate metabolism and may influence cell proliferation and differentiation. Expression is observed in various tissues, with notable levels in the kidney and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypophosphatemic rickets | Altered phosphate homeostasis due to SPX dysfunction | PMID: 25683117 |
| Chronic kidney disease | SPX expression changes linked to phosphate regulation | PMID: 29127259 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Low |
| Testis | 6.1 | Low |
| Brain | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HepG2 | 9.8 | Moderate expression |
| A549 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T | Missense | 0.001 | p.Arg72Cys; potential loss of function |
| c.389G>A | Missense | 0.0005 | p.Gly130Glu; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Missense variants may impair SPX domain function, disrupting phosphate signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • phosphate ion homeostasis (GO:0035435) |
| • cytoplasm (GO:0005737) |
Pathways
• Phosphate homeostasis pathway (Reactome: R-HSA-427589)
Protein Summary
The SPX protein (UniProt Q5MJ70) contains a conserved SPX domain that mediates interactions with inositol polyphosphates, playing a key role in phosphate sensing and cellular phosphate homeostasis. It is localized in the cytoplasm and may regulate signaling cascades involved in cell growth and metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPX Knockout HEK293 Cell Line | EDJ-KQ8812 | Human | 80763 | Details Get a Quote |
| SPX Knockout A-549 Cell Line | EDJ-KQ36372 | Human | 80763 | Details Get a Quote |
| SPX Knockout HeLa Cell Line | EDJ-KQ57346 | Human | 80763 | Details Get a Quote |
| SPX Knockout HCT 116 Cell Line | EDJ-KQ74276 | Human | 80763 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
