SLC38A4

Chr 12

solute carrier family 38 member 4

Also known as: ATA3, NAT3, PAAT, SNAT4

NCBI Gene: 55089ENSG00000139209UniProt: Q969I6OMIM: 608065

SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating 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
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.41
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.41LOEUF
pLI 0.560
Z-score 3.92
OE 0.21 (0.11–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.50Z-score
OE missense 0.76 (0.68–0.84)
225 obs / 297.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.21 (0.11–0.41)
0≤0.351.4
Missense OE?0.76 (0.68–0.84)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 6 / 28.7Missense obs/exp: 225 / 297.9Syn Z: 0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC38A4 · 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