FXYD5
FXYD domain containing ion transport regulator 5
Summary
This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., [email protected]., Sep 2009]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1383476391 | 19:35,646,458 | C/T | — | uncertain significance |
| rs140087598 | 19:35,646,469 | C/A | — | uncertain significance |
| rs201706236 | 19:35,646,470 | G/A | — | uncertain significance |
| rs1484930814 | 19:35,646,478 | C/G | — | uncertain significance |
| rs200498362 | 19:35,648,330 | C/T | — | uncertain significance |
| rs140956604 | 19:35,648,396 | G/A | — | likely benign |
| rs1617607 | 19:35,651,531 | A/C | — | — |
| rs386352302 | 19:35,651,692 | A/G | — | uncertain significance |
| rs1238625442 | 19:35,655,076 | A/C | — | uncertain significance |
| rs1318245408 | 19:35,655,104 | C/T | — | uncertain significance |
| rs535139146 | 19:35,655,127 | C/T | — | uncertain significance |
| rs200190054 | 19:35,657,159 | C/T | — | uncertain significance |
| rs200435409 | 19:35,657,168 | C/T | — | uncertain significance |
| rs141471950 | 19:35,660,493 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.