SLC43A2

Chr 17

solute carrier family 43 member 2

Also known as: LAT4

NCBI Gene: 124935ENSG00000167703UniProt: Q8N370

This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]

209
ClinVar variants
95
Pathogenic / LP
0.01
pLI score
0
Active trials
Clinical Summary— SLC43A2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.33) despite low pLI — interpret in context.
📋
ClinVar Variants
95 Pathogenic / Likely Pathogenic· 91 VUS of 209 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.57LOEUF
pLI 0.006
Z-score 3.25
OE 0.33 (0.20–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.80Z-score
OE missense 0.73 (0.66–0.81)
261 obs / 356.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.33 (0.20–0.57)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.73 (0.66–0.81)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.88
0≤1.21.6
LoF obs/exp: 9 / 27.4Missense obs/exp: 261 / 356.4Syn Z: 1.17

ClinVar Variant Classifications

209 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic82
Likely Pathogenic13
VUS91
Benign1
82
Pathogenic
13
Likely Pathogenic
91
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
82
0
82
Likely Pathogenic
0
0
13
0
13
VUS
0
70
21
0
91
Likely Benign
0
0
0
0
0
Benign
0
0
1
0
1
Total0701170187

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SLC43A2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
SLC43A2 and NFκB signaling pathway regulate methionine/cystine restriction-induced ferroptosis in esophageal squamous cell carcinoma via a feedback loop.
Peng H et al.·Cell Death Dis
2023
SLC43A2-mediated immune cell infiltration: a potential therapeutic target in acute myeloid leukemia.
Li M et al.·Front Immunol
2025
Blood-Based Epigenetic Biomarkers Associated With Incident Chronic Kidney Disease in Individuals With Type 2 Diabetes.
Marchiori M et al.·Diabetes
2025
Metabolic regulation by p53 prevents R-loop-associated genomic instability.
Panatta E et al.·Cell Rep
2022
The DNA methylome in panic disorder: a case-control and longitudinal psychotherapy-epigenetic study.
Ziegler C et al.·Transl Psychiatry
2019Natural history
A novel stemness classification in acute myeloid leukemia by the stemness index and the identification of cancer stem cell-related biomarkers.
Huang Y et al.·Front Immunol
2023
Discovery of signature genes in gastric cancer associated with prognosis.
Zhao X et al.·Neoplasma
2016
Integrative analysis of single-cell and bulk RNA sequencing data for discovery of senescent TAMs prognostic characteristics in neuroblastoma.
Qiu S et al.·BMC Cancer
2026
Multi-biofluid metabolomics coupled with gene network reveals stage-specific alterations in mild cognitive impairment and Alzheimer's disease in an ethnically mixed cohort.
Cadaxo AS et al.·Brain Res
2026Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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