Gene
SLC34A3
solute carrier family 34 member 3
- HGNC 20305↗(opens in a new tab)
- Ensembl gene ENSG00000198569↗(opens in a new tab)
- NCBI Gene 142680↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q34.3
- Coordinates
- Chromosome 9: 137,230,901–137,236,555 (GRCh38)
- Exons
- 13 exons across 5.7 kb
- Protein
- 599 amino acids
- Also known as
- NPTIIc, FLJ38680, NaPi-2c, NPT2C
- MANE Select transcript
- ENST00000673835.1NM_001177316.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)
- Hereditary hypophosphatemic rickets (including X-linked hypophosphatemia)
Inherited disorders of phosphate handling, most often caused by PHEX variants (X-linked hypophosphatemia) and less often by FGF23, DMP1, ENPP1 or SLC34A3, that lead to low blood phosphate and rickets.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Treatment with oral phosphate and active vitamin D, or with the anti-FGF23 antibody burosumab, can improve bone health and growth.
How SLC34A3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2 kb of the gene's 5.7 kb; 1,800 of those bases code for the protein.
How a genome test reads SLC34A3
63
positions in SLC34A3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 5.7 kb of SLC34A3, introns included, not only the 2 kb of exons.
Genes linked to the same conditions
Traits linked to SLC34A3
The Human Phenotype Ontology lists these as features of the rare conditions SLC34A3 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Elevated alkaline phosphatase
- Elevated urine calcium levels
- Low blood phosphate level
- Renal phosphate wasting
- Decreased circulating parathyroid hormone level
- Elevated alkaline phosphatase of bone origin
- Elevated circulating beta-CTX concentration
- Elevated circulating calcitriol concentration
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SLC34A3 gene: solute carrier family 34 member 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc34a3
Dante Labs. SLC34A3 gene: solute carrier family 34 member 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc34a3
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