SLC38A2

Chr 12

solute carrier family 38 member 2

Also known as: ATA2, PRO1068, SAT2, SNAT2

NCBI Gene: 54407ENSG00000134294UniProt: Q96QD8

Enables neutral L-amino acid:sodium symporter activity. Involved in several processes, including cellular response to arsenite(3-); neutral amino acid transport; and positive regulation of RNA splicing. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
52
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.24
LOEUF· LoF intol.
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
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.24LOEUF
pLI 0.997
Z-score 4.36
OE 0.08 (0.03–0.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
0.80Z-score
OE missense 0.86 (0.77–0.96)
227 obs / 263.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.08 (0.03–0.24)
0≤0.351.4
Missense OE?0.86 (0.77–0.96)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 2 / 26.0Missense obs/exp: 227 / 263.4Syn Z: -0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC38A2 · 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