SLC34A1 Chromosome 5
Solute carrier family 34 member 1
Upload your DNA to see your personal genotypes for variants in SLC34A1.
What This Gene Does
Enables sodium:phosphate symporter activity. Involved in several processes, including phosphate ion homeostasis; response to cadmium ion; and response to lead ion. Located in several cellular components, including apical plasma membrane; mitotic spindle; and nuclear speck. Implicated in several diseases, including Fanconi syndrome (multiple); chronic kidney disease; hereditary hypophosphatemic rickets with hypercalciuria; hypophosphatemic nephrolithiasis/osteoporosis 1; and nephrolithiasis. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Solute carrier family 34
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000131183
Associated Conditions (12)
Hypophosphatemic nephrolithiasis/osteoporosis 1
Fanconi renotubular syndrome 2
Hypercalcemia
infantile
2
SLC34A1-related disorder
Inborn genetic diseases
Nephrocalcinosis
Nephrolithiasis
Gastric cancer
Osteogenesis imperfecta type III
Autosomal recessive infantile hypercalcemia
Key Variants
RS112528230
Conflicting classifications of pathogenicity
Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1
Health Risk
RS1163121743
Conflicting classifications of pathogenicity
Fanconi renotubular syndrome 2, Hypercalcemia, infantile
Health Risk
RS1306742152
Conflicting classifications of pathogenicity
SLC34A1-related disorder, SLC34A1-related disorder
Health Risk
RS140649226
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 2
Health Risk
RS143201338
Conflicting classifications of pathogenicity
Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia, infantile
Health Risk
RS144306414
Conflicting classifications of pathogenicity
Hypophosphatemic nephrolithiasis/osteoporosis 1, SLC34A1-related disorder, Hypercalcemia
Health Risk
RS146919762
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 2
Health Risk
RS148615663
Conflicting classifications of pathogenicity
Fanconi renotubular syndrome 2, Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia
Health Risk
RS148669433
Conflicting classifications of pathogenicity
Hypophosphatemic nephrolithiasis/osteoporosis 1, Inborn genetic diseases, Hypercalcemia
Health Risk
RS148976897
Conflicting classifications of pathogenicity
Hypophosphatemic nephrolithiasis/osteoporosis 1, Nephrocalcinosis, Hypercalcemia
Health Risk
RS1554095263
Conflicting classifications of pathogenicity
Fanconi renotubular syndrome 2, Hypercalcemia, infantile
Health Risk
RS1762582225
Conflicting classifications of pathogenicity
Hypercalcemia, infantile, 2
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1306875523 | Health Risk | Pathogenic | — |
| RS1554095568 | Health Risk | Pathogenic | Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1 |
| RS1762659131 | Health Risk | Pathogenic | — |
| RS201304511 | Health Risk | Pathogenic | Hypercalcemia, infantile, 2 |
| RS2481010061 | Health Risk | Pathogenic | — |
| RS2481014382 | Health Risk | Pathogenic | — |
| RS2481026779 | Health Risk | Pathogenic | — |
| RS554566423 | Health Risk | Pathogenic | — |
| RS745917689 | Health Risk | Pathogenic | — |
| RS769409705 | Health Risk | Pathogenic | Hypercalcemia, infantile, 2 |
| RS876661338 | Health Risk | Pathogenic | Hypercalcemia, infantile, 2 |
| RS1426432774 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive infantile hypercalcemia, Fanconi renotubular syndrome 2, Hypercalcemia |
| RS200095793 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 2 |
| RS200893951 | Health Risk | Pathogenic/Likely pathogenic | Fanconi renotubular syndrome 2, Hypercalcemia, infantile |
| RS2481014114 | Health Risk | Pathogenic/Likely pathogenic | Fanconi renotubular syndrome 2, Fanconi renotubular syndrome 2 |
| RS757124444 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 2 |
| RS777543926 | Health Risk | Pathogenic/Likely pathogenic | Hypercalcemia, infantile, 2 |