SLC34A3 Chromosome 9
Solute carrier family 34 member 3
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What This Gene Does
This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]
Gene Info
Gene Group
Solute carrier family 34
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000198569
Associated Conditions (11)
Autosomal recessive hypophosphatemic bone disease
SLC34A3-related disorder
Thyroid cancer
nonmedullary
1
Clear cell carcinoma of kidney
Inborn genetic diseases
Kidney disorder
Hypophosphatemic nephrolithiasis/osteoporosis 1
Hypercalciuria
Hypophosphataemia or rickets
Key Variants
RS121918234
Conflicting classifications of pathogenicity
Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
Health Risk
RS121918236
Conflicting classifications of pathogenicity
Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
Health Risk
RS121918239
Conflicting classifications of pathogenicity
Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder, Thyroid cancer
Health Risk
RS1245002528
Conflicting classifications of pathogenicity
Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
Health Risk
RS1260778090
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1373464667
Conflicting classifications of pathogenicity
SLC34A3-related disorder, Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder
Health Risk
RS138872455
Conflicting classifications of pathogenicity
Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder, Autosomal recessive hypophosphatemic bone disease
Health Risk
RS139302994
Conflicting classifications of pathogenicity
Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
Health Risk
RS140639805
Conflicting classifications of pathogenicity
Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder, Autosomal recessive hypophosphatemic bone disease
Health Risk
RS140869490
Conflicting classifications of pathogenicity
SLC34A3-related disorder, Inborn genetic diseases, SLC34A3-related disorder
Health Risk
RS141734934
Conflicting classifications of pathogenicity
Autosomal recessive hypophosphatemic bone disease, Kidney disorder, Autosomal recessive hypophosphatemic bone disease
Health Risk
RS142040264
Conflicting classifications of pathogenicity
Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
Health Risk
All Variants (116)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918237 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS150841256 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS1554784044 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS1836451628 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS1836579405 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS201293634 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS369400414 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder, Autosomal recessive hypophosphatemic bone disease |
| RS748739254 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS750178720 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS752222200 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS755196320 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS757714479 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder, Autosomal recessive hypophosphatemic bone disease |
| RS762610288 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS765816079 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder, Autosomal recessive hypophosphatemic bone disease |
| RS781602446 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |
| RS949841477 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease |