SLC34A2
Solute Carrier Family 34 Member 2
Gene Information Card
| Symbol | SLC34A2 |
|---|---|
| Full Name | Solute Carrier Family 34 Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p15.2 |
| NCBI Gene ID | 10568 ncbi.nlm.nih.gov/gene/10568 |
| Ensembl ID | ENSG00000157765 |
| UniProt ID | O95436 |
| OMIM ID | 604217 |
| HGNC ID | 11020 |
| Aliases | NaPi-2b, NPT2b, SLC34A2 |
Description
SLC34A2 (Solute Carrier Family 34 Member 2) encodes a type II sodium-dependent phosphate transporter (NaPi-2b) that mediates inorganic phosphate uptake across cell membranes. It is highly expressed in lung, small intestine, and kidney, playing a key role in phosphate homeostasis. Mutations in SLC34A2 cause pulmonary alveolar microlithiasis (PAM), a rare disorder characterized by calcium phosphate deposits in the alveoli. Overexpression of SLC34A2 is observed in several cancers, including breast and ovarian cancer, where it supports tumor growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary Alveolar Microlithiasis | Loss-of-function mutations impair phosphate transport in alveolar type II cells, leading to intra-alveolar microlith formation | PMID: 16845398, OMIM #265100 |
| Breast Cancer | Overexpression of NaPi-2b increases phosphate uptake, promoting cell proliferation and tumor growth | PMID: 25605294 |
| Ovarian Cancer | Elevated SLC34A2 expression correlates with poor prognosis; transporter supports metabolic demands | PMID: 23934607 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 45.2 | High |
| Small Intestine | 38.7 | High |
| Kidney | 22.1 | Medium |
| Breast | 12.5 | Medium |
| Ovary | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 62.3 | High expression |
| MCF7 (breast) | 28.9 | Moderate expression |
| HEK293 (kidney) | 15.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Gln76*) | Nonsense | Rare | Loss of function; associated with PAM |
| c.575C>T (p.Thr192Met) | Missense | Rare | Loss of function; associated with PAM |
| c.1399G>A (p.Gly467Arg) | Missense | Rare | Loss of function; associated with PAM |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Gln76*, p.Thr192Met) disrupt phosphate transport activity, leading to pulmonary alveolar microlithiasis.
Gain of Function (GOF)
Not reported in SLC34A2.
Dominant Negative (DN)
Not reported in SLC34A2.
View complete mutation data：
Gene Ontology (GO)
| • inorganic phosphate transmembrane transporter activity (GO:0005315) | • symporter activity (GO:0015293) |
| • phosphate ion transport (GO:0006817) | • integral component of membrane (GO:0016021) |
| • extracellular exosome (GO:0070062) |
Pathways
• Vitamin D metabolism and phosphate homeostasis (Reactome: R-HSA-196025)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
NaPi-2b is a 10-transmembrane domain glycoprotein that cotransports sodium and inorganic phosphate across the apical membrane of epithelial cells. It is essential for phosphate reabsorption in the kidney and absorption in the intestine. In the lung, it maintains surfactant composition. The protein is also a target for antibody-drug conjugates in cancer therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC34A2 Knockout HEK293 Cell Line | EDJ-KQ3596 | Human | 10568 | Details Get a Quote |
| SLC34A2 Knockout HeLa Cell Line | EDJ-KQ55432 | Human | 10568 | Details Get a Quote |
| SLC34A2 Knockout A-549 Cell Line | EDJ-KQ63913 | Human | 10568 | Details Get a Quote |
| SLC34A2 Knockout HCT 116 Cell Line | EDJ-KQ72372 | Human | 10568 | Details Get a Quote |
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