SLC34A1

Chr 5

solute carrier family 34 member 1

Also known as: FRTS2, HCINF2, NAPI-3, NPHLOP1, NPT2, NPTIIa, SLC11, SLC17A2

NCBI Gene: 6569ENSG00000131183UniProt: Q06495

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNephrolithiasis/osteoporosis, hypophosphatemic, 1
UniProtFanconi renotubular syndrome 2
UniProtHypercalcemia, infantile, 2

Clinical highlights

Gene-disease validity (ClinGen)
hypercalcemia, infantile, 2 · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
0
Active trials
40
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.83
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.83LOEUF
pLI 0.000
Z-score -1.85
OE 1.41 (1.07–1.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.48Z-score
OE missense 1.07 (0.98–1.16)
400 obs / 374.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.41 (1.07–1.83)
0≤0.351.4
Missense OE?1.07 (0.98–1.16)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 34 / 24.2Missense obs/exp: 400 / 374.1Syn Z: -0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC34A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients