SLC38A3

Chr 3AR

solute carrier family 38 member 3

Also known as: DEE102, G17, NAT1, SN1, SNAT3

NCBI Gene: 10991ENSG00000188338UniProt: Q99624

Enables L-amino acid transmembrane transporter activity. Involved in carboxylic acid transport. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 102. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 102MIM #619881
AR
82
ClinVar variants
17
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SLC38A3
📋
ClinVar Variants
17 Pathogenic / Likely Pathogenic· 56 VUS of 82 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

82 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic2
VUS56
Likely Benign3
15
Pathogenic
2
Likely Pathogenic
56
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
3
1
11
0
15
Likely Pathogenic
0
0
2
0
2
VUS
0
54
2
0
56
Likely Benign
0
3
0
0
3
Benign
0
0
0
0
0
Total35815076

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

View in ClinVar →

Protein Context — Lollipop Plot

SLC38A3 · protein map & ClinVar variants

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

Gene2Phenotype Curations

SLC38A3-related epileptic encephalopathy

strong
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Developmental and epileptic encephalopathy 102

MIM #619881

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi D et al.·Brain
2022
Identification and validation of glucose metabolism-related gene signature in endometrial cancer.
Jiang J et al.·BMC Cancer
2025
Amino acid transporter SLC38A3 promotes metastasis of non-small cell lung cancer cells by activating PDK1.
Wang Y et al.·Cancer Lett
2017
A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family.
Alawbathani S et al.·Clin Genet
2023
HuR promotes the molecular signature and phenotype of activated microglia: Implications for amyotrophic lateral sclerosis and other neurodegenerative diseases.
Matsye P et al.·Glia
2017
Comparative transcriptomic analysis of vascular endothelial cells after hypoxia/re-oxygenation induction based on microarray technology.
Xu J et al.·J Zhejiang Univ Sci B
2020
Actin alpha cardiac muscle 1 gene expression is upregulated in the skeletal muscle of men undergoing androgen deprivation therapy for prostate cancer.
Cheung AS et al.·J Steroid Biochem Mol Biol
2017
Chronic cadmium exposure in vitro induces cancer cell characteristics in human lung cells.
Person RJ et al.·Toxicol Appl Pharmacol
2013
Chronic inorganic arsenic exposure in vitro induces a cancer cell phenotype in human peripheral lung epithelial cells.
Person RJ et al.·Toxicol Appl Pharmacol
2015
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