SLC3A2
Chr 11solute carrier family 3 member 2
Also known as: 4F2, 4F2HC, 4T2HC, CD98, CD98HC, MDU1, NACAE
This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
107 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 73 | 4 | 0 | 77 |
Likely Benign | 0 | 6 | 1 | 6 | 13 |
Benign | 0 | 1 | 2 | 3 | 6 |
| Total | 0 | 80 | 18 | 9 | 107 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC3A2 · 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
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma (The MATCH Screening Trial)
ACTIVE NOT RECRUITINGLenalidomide and Vaccine Therapy in Treating Patients With Early-Stage Asymptomatic Chronic Lymphocytic Leukemia or Small Lymphocytic Lymphoma
ACTIVE NOT RECRUITINGTreatment of CD19 Chimeric Antigen Receptor T Cells for Pediatric Patients With CD19-positive B-cell Acute Lymphoblastic Leukemia Who Are Indicated for Hematopoietic Stem Cell Transplantation
RECRUITINGPapaverine in Combination With Chemoradiation for the Treatment of Stage II-III Non-small Cell Lung Cancer
RECRUITINGTirzepatide and Muscle Outcomes in Obesity
RECRUITINGStudy of ASP2957 in Male Participants With X-linked Myotubular Myopathy Who Need Ventilators
RECRUITINGAutologous Gene Therapy for Artemis-Deficient SCID
RECRUITINGTesting the Combination of Olaparib and Durvalumab, Cediranib and Durvalumab, Olaparib and Capivasertib, and Cediranib Alone in Recurrent or Refractory Endometrial Cancer Following the Earlier Phase of the Study That Tested Olaparib and Cediranib in Comparison to Cediranib Alone, and Olaparib Alone
ACTIVE NOT RECRUITINGTesting the Addition of an Individualized Vaccine to Durvalumab and Tremelimumab and Chemotherapy in Patients With Metastatic Triple Negative Breast Cancer
RECRUITINGRadiation Therapy and Durvalumab With or Without Tremelimumab in Treating Participants With Unresectable, Locally Advanced, or Metastatic Bladder Cancer
ACTIVE NOT RECRUITINGDurvalumab and Tremelimumab After Radioembolization for the Treatment of Unresectable, Locally Advanced Liver Cancer
ACTIVE NOT RECRUITINGRespiratory Muscles in End-stage Lung Disease: Pathophysiological Processes & Clinical Consequences
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools