SLC34A2

Chr 4AR

solute carrier family 34 member 2

Also known as: NAPI-3B, NAPI-IIb, NPTIIb, NaPi2b, PULAM

The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Pulmonary alveolar microlithiasisMIM #265100
AR
0
Active trials
42
Pubs (1 yr)
P/LP submissions
P/LP missense
1.09
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.09LOEUF
pLI 0.000
Z-score 1.20
OE 0.74 (0.521.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.14Z-score
OE missense 0.98 (0.901.06)
391 obs / 399.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.521.09)
00.351.4
Missense OE?0.98 (0.901.06)
00.61.4
Synonymous OE?1.22
01.21.6
LoF obs/exp: 19 / 25.6Missense obs/exp: 391 / 399.1Syn Z: -2.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC34A2 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →