FXYD2 encodes FXYD domain containing ion transport regulator 2 (66 aa). May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase Highest expression in Kidney Medulla (574.8 TPM) and Kidney Cortex (299.0 TPM).

Renal hypomagnesemia 2 has been associated with mutations in the FXYD2 gene on chromosome 11.

The FXYD2 protein participates in ATP1A:ATP1B:FXYD exchanges 3Na+ for 2K+ pathway.

FXYD2 is classified as a druggable target (Druggable Genome and Transporter categories) with score 1.5.

Genetic testing for FXYD2 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for renal hypomagnesemia 2 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for renal hypomagnesemia 2.

79 publications have been identified in PubMed for renal hypomagnesemia 2. Research spans Case Report / Case Series (32%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (20%).

Recent Publications

• Abe E (2026). [PMID: 41692905](https://pubmed.ncbi.nlm.nih.gov/41692905/). *CEN case reports*. [Case Report / Case Series]

• Nakata K (2026). [PMID: 41452545](https://pubmed.ncbi.nlm.nih.gov/41452545/). *Clinical and experimental nephrology*. [Basic Science / Preclinical]

• Guillot D (2026). [PMID: 42175994](https://pubmed.ncbi.nlm.nih.gov/42175994/). *J Nephrol*. [Clinical Trial Publication]

• Yang Y (2026). [PMID: 41924323](https://pubmed.ncbi.nlm.nih.gov/41924323/). *Clin Nephrol Case Stud*. [Case Report / Case Series]

• Sassi A (2026). [PMID: 41934123](https://pubmed.ncbi.nlm.nih.gov/41934123/). *Curr Opin Nephrol Hypertens*. [Review / Meta-Analysis]

• Mathavan A (2026). [PMID: 41854743](https://pubmed.ncbi.nlm.nih.gov/41854743/). *Kidney360*. [Review / Meta-Analysis]

• Sheng QQ (2026). [PMID: 41845298](https://pubmed.ncbi.nlm.nih.gov/41845298/). *BMC Nephrol*. [Epidemiology / Natural History]

• Boe N (2026). [PMID: 42016181](https://pubmed.ncbi.nlm.nih.gov/42016181/). *AJOG Glob Rep*. [Case Report / Case Series]

• Maertens J (2026). [PMID: 41549663](https://pubmed.ncbi.nlm.nih.gov/41549663/). *The Journal of antimicrobial chemotherapy*. [Review / Meta-Analysis]

• Zhang Y (2026). [PMID: 41971912](https://pubmed.ncbi.nlm.nih.gov/41971912/). *AME Case Rep*. [Case Report / Case Series]