FXYD2 Chromosome 11
FXYD domain containing ion transport regulator 2
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What This Gene Does
This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011]
Associated Conditions (3)
Renal hypomagnesemia 2
FXYD2-related disorder
Inborn genetic diseases
Key Variants
RS146614981
Conflicting classifications of pathogenicity
Renal hypomagnesemia 2, FXYD2-related disorder, Renal hypomagnesemia 2
Health Risk
RS150608549
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200472357
Conflicting classifications of pathogenicity
Renal hypomagnesemia 2, Renal hypomagnesemia 2
Health Risk
RS28938168
Pathogenic
Renal hypomagnesemia 2, Renal hypomagnesemia 2
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146614981 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 2, FXYD2-related disorder, Renal hypomagnesemia 2 |
| RS150608549 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200472357 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 2, Renal hypomagnesemia 2 |
| RS28938168 | Health Risk | Pathogenic | Renal hypomagnesemia 2, Renal hypomagnesemia 2 |