SLC34A1 Chromosome 5
Solute carrier family 34 member 1
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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 |
|---|---|---|---|
| RS112528230 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1 |
| RS1163121743 | Health Risk | Conflicting classifications of pathogenicity | Fanconi renotubular syndrome 2, Hypercalcemia, infantile |
| RS1306742152 | Health Risk | Conflicting classifications of pathogenicity | SLC34A1-related disorder, SLC34A1-related disorder |
| RS140649226 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS143201338 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia, infantile |
| RS144306414 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, SLC34A1-related disorder, Hypercalcemia |
| RS146919762 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS148615663 | Health Risk | Conflicting classifications of pathogenicity | Fanconi renotubular syndrome 2, Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia |
| RS148669433 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Inborn genetic diseases, Hypercalcemia |
| RS148976897 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Nephrocalcinosis, Hypercalcemia |
| RS1554095263 | Health Risk | Conflicting classifications of pathogenicity | Fanconi renotubular syndrome 2, Hypercalcemia, infantile |
| RS1762582225 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS1763019193 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS199565633 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia, infantile |
| RS201331677 | Health Risk | Conflicting classifications of pathogenicity | Nephrolithiasis, Nephrocalcinosis, SLC34A1-related disorder |
| RS202081023 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia, infantile |
| RS2127355139 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS34044544 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Fanconi renotubular syndrome 2, Hypophosphatemic nephrolithiasis/osteoporosis 1 |
| RS369770760 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372577906 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Fanconi renotubular syndrome 2, Hypercalcemia |
| RS372860328 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376448083 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377186926 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS548223568 | Health Risk | Conflicting classifications of pathogenicity | Fanconi renotubular syndrome 2, Fanconi renotubular syndrome 2 |
| RS548844573 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Fanconi renotubular syndrome 2, Hypercalcemia |
| RS561557630 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS570463028 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS753845247 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS754825865 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS756685605 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia, infantile |
| RS763096294 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Inborn genetic diseases, Hypophosphatemic nephrolithiasis/osteoporosis 1 |
| RS765766600 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypercalcemia, infantile |
| RS773115741 | Health Risk | Conflicting classifications of pathogenicity | Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1 |
| RS777574121 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Fanconi renotubular syndrome 2, Hypophosphatemic nephrolithiasis/osteoporosis 1 |
| RS777694025 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS876661296 | Health Risk | Conflicting classifications of pathogenicity | Hypercalcemia, infantile, 2 |
| RS1185100306 | Health Risk | Likely pathogenic | — |
| RS1298448088 | Health Risk | Likely pathogenic | SLC34A1-related disorder, SLC34A1-related disorder |
| RS1364012682 | Health Risk | Likely pathogenic | — |
| RS141827822 | Health Risk | Likely pathogenic | — |
| RS1554095500 | Health Risk | Likely pathogenic | Hypercalcemia, infantile, 2 |
| RS1581634382 | Health Risk | Likely pathogenic | Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS188409125 | Health Risk | Likely pathogenic | Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia, infantile |
| RS2481008620 | Health Risk | Likely pathogenic | Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1 |
| RS765036417 | Health Risk | Likely pathogenic | — |
| RS765915351 | Health Risk | Likely pathogenic | — |
| RS770557903 | Health Risk | Likely pathogenic | Fanconi renotubular syndrome 2, Fanconi renotubular syndrome 2 |
| RS1174958403 | Health Risk | Pathogenic | Hypercalcemia, infantile, 2 |
| RS121918610 | Health Risk | Pathogenic | Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1 |
| RS1272063335 | Health Risk | Pathogenic | Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1 |