FXYD6-FXYD2
A readthrough transcript encoding a fusion of FXYD domain-containing ion transport regulator 6 and 2, implicated in ion transport regulation and potential cancer association.
Gene Information Card
| Symbol | FXYD6-FXYD2 |
|---|---|
| Full Name | FXYD domain containing ion transport regulator 6-FXYD domain containing ion transport regulator 2 readthrough |
| Gene Type | Readthrough transcript (protein-coding) |
| Chromosomal Location | 11q23.3 (based on FXYD6 and FXYD2 locations) |
| NCBI Gene ID | 100528032 ncbi.nlm.nih.gov/gene/100528032 |
| Ensembl ID | ENSG00000269335 |
| UniProt ID | Q9Y3F4 (FXYD6); P54710 (FXYD2) – no dedicated UniProt entry for readthrough |
| OMIM ID | Not assigned (FXYD6: 606648; FXYD2: 601814) |
| HGNC ID | HGNC:40056 |
| Aliases | FXYD6-FXYD2 readthrough transcript |
Description
FXYD6-FXYD2 is a naturally occurring readthrough transcript that spans the adjacent FXYD6 and FXYD2 genes on chromosome 11q23.3. This locus produces a fusion mRNA that includes exons from both genes, potentially encoding a chimeric protein with altered ion transport regulatory function. The readthrough is supported by mRNA and EST evidence, but its functional significance remains under investigation. FXYD proteins are small transmembrane modulators of Na+/K+-ATPase, and dysregulation has been linked to various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | FXYD6 overexpression promotes cell proliferation and migration; readthrough may alter expression | PMID: 23844010 (FXYD6 in HCC) |
| Gastric cancer | FXYD6 upregulation associated with poor prognosis; readthrough may contribute to oncogenic signaling | PMID: 28122350 |
| Hypomagnesemia (FXYD2-related) | Mutations in FXYD2 cause renal magnesium wasting; readthrough may affect FXYD2 splicing | OMIM: 154020 (FXYD2-related) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | Not available (readthrough-specific) | FXYD2 highly expressed in kidney; readthrough may be co-expressed |
| Brain | Not available | FXYD6 expressed in brain; readthrough may be present |
| Liver | Not available | FXYD6 expressed in liver; readthrough may be present |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | Not available | FXYD6 expressed; readthrough may be detected |
| MCF7 (breast cancer) | Not available | FXYD6 expression reported; readthrough not characterized |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants curated for readthrough | N/A | N/A | No data in ClinVar/COSMIC for readthrough; variants in individual genes may affect fusion |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations in the readthrough transcript.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ion transport | • sodium:potassium-exchanging ATPase complex |
| • plasma membrane | • regulation of ion transmembrane transport |
Pathways
• Na+/K+-ATPase regulation
• Ion transport by P-type ATPases
Protein Summary
The FXYD6-FXYD2 readthrough transcript is predicted to produce a chimeric protein containing the N-terminal region of FXYD6 and the C-terminal region of FXYD2, both of which are single-pass transmembrane proteins that modulate Na+/K+-ATPase activity. The fusion may alter the tissue-specific regulation of ion transport, potentially affecting cellular excitability and fluid balance. However, no experimental characterization of the protein product has been reported, and its physiological relevance remains speculative.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FXYD6-FXYD2 Knockout HEK293 Cell Line | EDJ-KQ52505 | Human | 100533181 | Details Get a Quote |
| FXYD6-FXYD2 Knockout HeLa Cell Line | EDJ-KQ60970 | Human | 100533181 | Details Get a Quote |
| FXYD6-FXYD2 Knockout A-549 Cell Line | EDJ-KQ69445 | Human | 100533181 | Details Get a Quote |
| FXYD6-FXYD2 Knockout HCT 116 Cell Line | EDJ-KQ77796 | Human | 100533181 | Details Get a Quote |
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