SLC34A1 solute carrier family 34 member 1
Gene ID: 6569, updated on 23-Mar-2024Gene type: protein coding
Also known as: NPT2; FRTS2; SLC11; HCINF2; NAPI-3; NPTIIa; NPHLOP1; SLC17A2
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC34A1
- Go to Variation Viewer for SLC34A1 variants
Summary
Enables sodium:phosphate symporter activity. Involved in several processes, including phosphate ion homeostasis; phosphate ion transport; 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, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. GeneReviews: Not available | |
| Fanconi renotubular syndrome 2 | See labs |
| Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. GeneReviews: Not available | |
| Hypercalcemia, infantile, 2 | See labs |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | See labs |
| Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. GeneReviews: Not available | |
| New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available |
Genomic context
- Location:
- 5q35.3
- Sequence:
- Chromosome: 5; NC_000005.10 (177384434..177398848)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC34A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC34A1 database
- Variation ViewerRelated Variants
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