HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC34A2
solute carrier family 34 member 2
Chromosome 4 Β· 4p15.2
NCBI Gene: 10568Ensembl: ENSG00000157765.14HGNC: HGNC:11020UniProt: O95436
63PubMed Papers
21Diseases
1Drugs
19Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmcytosolphosphate ion bindingphosphate ion transportpulmonary alveolar microlithiasislung adenocarcinomanon-small cell lung carcinomasquamous cell lung carcinoma
✦AI Summary

SLC34A2 encodes NaPi-IIb, a sodium-dependent phosphate cotransporter that actively transports phosphate into cells 1. The protein is predominantly expressed in the lung, specifically in the apical membrane of type II alveolar epithelial cells (ATII), and plays a crucial role in phosphate homeostasis 23. Mechanistically, SLC34A2 regulates cellular phosphate levels through sodium-phosphate symporter activity, with its function being critical for maintaining both local and systemic phosphate balance 1. The transporter's activity is regulated through transcriptional, translational, and post-translational mechanisms involving PDZ domain proteins and membrane trafficking 1. In disease contexts, homozygous mutations in SLC34A2 cause pulmonary alveolar microlithiasis (PAM), a rare autosomal recessive disorder characterized by calcium phosphate microlith deposition in lung alveoli 45. Additionally, SLC34A2 functions as a tumor suppressor, being significantly downregulated in various cancers including non-small cell lung cancer and osteosarcoma 263. In cancer cells, SLC34A2 suppresses proliferation, migration, and invasion through regulation of PI3K/AKT and MAPK signaling pathways 63. Clinically, SLC34A2 represents both a diagnostic marker for PAM and a potential therapeutic target in cancer treatment strategies.

Sources cited
1
SLC34A2 encodes NaPi-IIb, a sodium-dependent phosphate cotransporter that actively transports phosphate into cells .
PMID: 31168066
2
The protein is predominantly expressed in the lung, specifically in the apical membrane of type II alveolar epithelial cells (ATII), and plays a crucial role in phosphate homeostasis .
PMID: 26156586
3
The protein is predominantly expressed in the lung, specifically in the apical membrane of type II alveolar epithelial cells (ATII), and plays a crucial role in phosphate homeostasis .
PMID: 40603644
4
In disease contexts, homozygous mutations in SLC34A2 cause pulmonary alveolar microlithiasis (PAM), a rare autosomal recessive disorder characterized by calcium phosphate microlith deposition in lung alveoli .
PMID: 23164546
5
In disease contexts, homozygous mutations in SLC34A2 cause pulmonary alveolar microlithiasis (PAM), a rare autosomal recessive disorder characterized by calcium phosphate microlith deposition in lung alveoli .
PMID: 27514591
6
Additionally, SLC34A2 functions as a tumor suppressor, being significantly downregulated in various cancers including non-small cell lung cancer and osteosarcoma .
PMID: 28777670
Disease Associationsβ“˜21
pulmonary alveolar microlithiasisOpen Targets
0.74Strong
lung adenocarcinomaOpen Targets
0.41Moderate
non-small cell lung carcinomaOpen Targets
0.40Moderate
squamous cell lung carcinomaOpen Targets
0.37Weak
acute myeloid leukemiaOpen Targets
0.34Weak
external ear diseaseOpen Targets
0.33Weak
complex regional pain syndromeOpen Targets
0.33Weak
placenta praeviaOpen Targets
0.32Weak
colorectal adenocarcinomaOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.32Weak
papillary thyroid carcinomaOpen Targets
0.30Weak
hepatocellular carcinomaOpen Targets
0.30Weak
lung carcinomaOpen Targets
0.29Weak
esophageal adenocarcinomaOpen Targets
0.29Weak
esophageal squamous cell carcinomaOpen Targets
0.29Weak
small cell lung carcinomaOpen Targets
0.28Weak
papillary renal cell carcinomaOpen Targets
0.28Weak
urinary bladder carcinomaOpen Targets
0.28Weak
prostate carcinomaOpen Targets
0.28Weak
thyroid carcinomaOpen Targets
0.28Weak
Pulmonary alveolar microlithiasisUniProt
Pathogenic Variants19
NM_006424.3(SLC34A2):c.1328del (p.Leu443fs)Likely pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS
β˜…β˜†β˜†β˜†2025β†’ Residue 443
NM_006424.3(SLC34A2):c.524-1G>CLikely pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS
β˜…β˜†β˜†β˜†2025
NM_006424.3(SLC34A2):c.379+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_006424.3(SLC34A2):c.843dup (p.Val282fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 282
NM_006424.3(SLC34A2):c.1049-2A>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_006424.3(SLC34A2):c.1056dup (p.Ile353fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 353
NM_006424.3(SLC34A2):c.853C>T (p.Gln285Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 285
NM_006424.3(SLC34A2):c.927+1G>CLikely pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS
β˜…β˜†β˜†β˜†2024
NM_006424.3(SLC34A2):c.1613_1616del (p.Phe537_Phe538insTer)Likely pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS
β˜…β˜†β˜†β˜†2024β†’ Residue 537
NM_006424.3(SLC34A2):c.1342_1361del (p.Val448fs)Likely pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS
β˜…β˜†β˜†β˜†2024β†’ Residue 448
NM_006424.3(SLC34A2):c.316G>C (p.Gly106Arg)Likely pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS
β˜…β˜†β˜†β˜†2023β†’ Residue 106
NM_006424.3(SLC34A2):c.818del (p.Lys273fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 273
NM_006424.3(SLC34A2):c.1238G>A (p.Trp413Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 413
NM_006424.3(SLC34A2):c.113-2A>GLikely pathogenic
Hereditary breast ovarian cancer syndrome
β˜…β˜†β˜†β˜†2020
NM_006424.3(SLC34A2):c.910A>T (p.Lys304Ter)Pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS
β˜…β˜†β˜†β˜†β†’ Residue 304
NM_006424.3(SLC34A2):c.212_224del (p.Asn71fs)Pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS
β˜†β˜†β˜†β˜†2015β†’ Residue 71
NM_006424.3(SLC34A2):c.114del (p.Asp39fs)Pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS
β˜†β˜†β˜†β˜†2006β†’ Residue 39
NC_000004.12:g.25655728_25655913delPathogenic
PULMONARY ALVEOLAR MICROLITHIASIS
β˜†β˜†β˜†β˜†2006
NM_006424.3(SLC34A2):c.226C>T (p.Gln76Ter)Pathogenic
PULMONARY ALVEOLAR MICROLITHIASIS
β˜†β˜†β˜†β˜†2006β†’ Residue 76
View on ClinVar β†—
Drug Targets1
LIFASTUZUMAB VEDOTINPhase II
Sodium-dependent phosphate transport protein 2B binding agent
ovarian cancer
Related Genes
NHERF1Protein interaction92%GOPCProtein interaction87%TPM3Protein interaction85%ROS1Protein interaction79%CCDC6Protein interaction79%LRIG3Protein interaction75%
Tissue Expression6 tissues
Lung
100%
Liver
0%
Ovary
0%
Brain
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SLC34A2NHERF1GOPCTPM3ROS1CCDC6LRIG3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O95436
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.60–1.02]
RankingsWhere SLC34A2 stands among ~20K protein-coding genes
  • #7,405of 20,598
    Most Researched63
  • #2,241of 5,498
    Most Pathogenic Variants19
  • #9,987of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedSLC34A2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Phosphate dysregulation via the XPR1-KIDINS220 protein complex is a therapeutic vulnerability in ovarian cancer.
PMID: 35437317
Nat Cancer Β· 2022
1.00
2
SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: report of four cases and review of literatures.
PMID: 23164546
Respir Med Β· 2013
0.90
3
SLC34A2 Regulates the Proliferation, Migration, and Invasion of Human Osteosarcoma Cells Through PTEN/PI3K/AKT Signaling.
PMID: 28777670
DNA Cell Biol Β· 2017
0.80
4
Mechanisms of phosphate transport.
PMID: 31168066
Nat Rev Nephrol Β· 2019
0.70
5
The effects and mechanisms of SLC34A2 in tumorigenesis and progression of human non-small cell lung cancer.
PMID: 26156586
J Biomed Sci Β· 2015
0.60