Identity
HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
HHRH,NPTIIc
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 142680
MIM: 609826
HGNC: 20305
Ensembl: ENSG00000198569
Variants:
dbSNP: 142680
ClinVar: 142680
TCGA: ENSG00000198569
COSMIC: SLC34A3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000198569 | ENST00000361134 | Q8N130 |
| ENSG00000198569 | ENST00000538474 | Q8N130 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36596813 | 2023 | Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants. | 3 |
| 37414395 | 2023 | Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease. | 1 |
| 36596813 | 2023 | Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants. | 3 |
| 37414395 | 2023 | Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease. | 1 |
| 32725396 | 2021 | The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia. | 0 |
| 32725396 | 2021 | The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia. | 0 |
| 32155322 | 2020 | Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria. | 1 |
| 32311027 | 2020 | Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. | 13 |
| 32155322 | 2020 | Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria. | 1 |
| 32311027 | 2020 | Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. | 13 |
| 29505567 | 2018 | Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. | 9 |
| 29809158 | 2018 | SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria. | 10 |
| 29505567 | 2018 | Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. | 9 |
| 29809158 | 2018 | SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria. | 10 |
| 24700880 | 2014 | Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. | 56 |
Citation
Dessen P
SLC34A3 (solute carrier family 34 member 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73396/new-content/teaching-explorer/
