SLC34A3 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
SLC34A3
Official Name
solute carrier family 34 member 3 [Source:HGNC Symbol;Acc:HGNC:20305]
Ensembl ID
ENSG00000198569
Bio databases IDs NCBI: 142680 Ensembl: ENSG00000198569
Aliases solute carrier family 34 member 3
Synonyms HHRH, LOC246234, naPi-2c, NPT2C, Npt2c-v1, NPTIIc, Sodium Phosphate Cotransporter Type2c, solute carrier family 34 member 3, solute carrier family 34 (sodium phosphate), member 3, Type ii sodium phosphate cotransporter
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC34A3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Phosphate:Na+ Symporter (PNaS) Family
  • protein binding
  • sodium:phosphate symporter
  • transporter

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal recessive hypophosphatemic rickets with hypercalciuria
  • hypercalcemia
  • renal phosphate wasting
  • hypophosphatemic nephrolithiasis/osteoporosis type 1
  • hypercalciuria
regulated by
regulates
  • adenosine triphosphate
  • Ca2+
  • Na+
  • FGF23
  • phosphate
  • calcitriol
  • vitamin D
role in cell
  • homeostasis in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cellular membrane
  • apical membrane
  • brush border
  • brush border membrane vesicles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SLC34A3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • sodium ion transport
  • phosphate ion transport
  • sodium-dependent phosphate transport
  • sodium ion transmembrane transport
  • cellular phosphate ion homeostasis

Cellular Component

Where in the cell the gene product is active
  • brush border membrane
  • brush border
  • vesicle
  • plasma membrane
  • apical plasma membrane

Molecular Function

What the gene product does at the molecular level
  • sodium:phosphate symporter activity
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.