SLC47A2

Chr 17

solute carrier family 47 member 2

Also known as: MATE2, MATE2-B, MATE2-K, MATE2K

NCBI Gene: 146802ENSG00000180638UniProt: Q86VL8

This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

208
ClinVar variants
98
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— SLC47A2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
98 Pathogenic / Likely Pathogenic· 98 VUS of 208 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
1.13LOEUF
pLI 0.000
Z-score 0.97
OE 0.81 (0.59–1.13)
Tolerant

Highly tolerant — LoF variants common in population

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.
0.35Z-score
OE missense 0.95 (0.86–1.04)
326 obs / 344.0 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.0.81 (0.59–1.13)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.95 (0.86–1.04)
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.0.98
0≤1.21.6
LoF obs/exp: 25 / 30.8Missense obs/exp: 326 / 344.0Syn Z: 0.19

ClinVar Variant Classifications

208 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic96
Likely Pathogenic2
VUS98
Likely Benign9
Benign3
96
Pathogenic
2
Likely Pathogenic
98
VUS
9
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
96
0
96
Likely Pathogenic
0
0
2
0
2
VUS
0
82
16
0
98
Likely Benign
0
6
1
2
9
Benign
0
1
0
2
3
Total0891154208

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

View in ClinVar →

Protein Context — Lollipop Plot

SLC47A2 · 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
Impact of solute carrier transporter gene polymorphisms on serum creatinine concentrations in healthy volunteers.
Yokoyama S et al.·Pharmacol Res Perspect
2023Review
Lack of effect of the SLC47A1 and SLC47A2 gene polymorphisms on the glycemic response to metformin in type 2 diabetes mellitus patients.
Raj GM et al.·Drug Metab Pers Ther
2018Cohort
The Influence of OCT3 and MATE2 Genetic Polymorphisms in Poor Response to Metformin in Type 2 Diabetes Mellitus.
Naem AAA et al.·Endocrinol Diabetes Metab
2024
Influence of glycemic control in sleep status in diabetes mellitus patients type 2 and its related with SNPs of SLC47A2: Intron variant.
Amshawee AM et al.·Wiad Lek
2025Cohort
Transporter biology in drug approval: regulatory aspects.
Maeda K et al.·Mol Aspects Med
2013Review
Importance of the multidrug and toxin extrusion MATE/SLC47A family to pharmacokinetics, pharmacodynamics/toxicodynamics and pharmacogenomics.
Yonezawa A et al.·Br J Pharmacol
2011Review
Identification of clinical and pharmacogenetic factors influencing metformin response in Type 2 diabetes mellitus.
Pérez-Gómez N et al.·Pharmacogenomics
2023
A Multicompartment Human Kidney Proximal Tubule-on-a-Chip Replicates Cell Polarization-Dependent Cisplatin Toxicity.
Nieskens TTG et al.·Drug Metab Dispos
2020
Organic cation transporters (OCTs, MATEs), in vitro and in vivo evidence for the importance in drug therapy.
Nies AT et al.·Handb Exp Pharmacol
2011Review
Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort.
Santoro AB et al.·Br J Clin Pharmacol
2018Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Frequency of Polymorphisms in SLC47A1 (rs2252281 and rs2289669) and SLC47A2 (rs34834489 and rs12943590) and the Influence of SLC22A1 (rs72552763 and rs622342) on HbA1c Levels in Mexican-Mestizo Patients with DMT2 Treated with Metformin Monotherapy.
Gómez-Hernández MA et al.·Int J Mol Sci
2025🔓 Open AccessCohort
Association of SLC22A1, SLC22A2, SLC47A1, and SLC47A2 Polymorphisms with Metformin Efficacy in Type 2 Diabetic Patients.
Chen P et al.·Biomedicines
2022🔓 Open AccessCohort
Population diversity of three variants of the SLC47A2 gene (MATE2-K transporter) in Mexican Mestizos and Native Americans.
Favela-Mendoza AF et al.·Mol Biol Rep
2021
A novel human lncRNA SANT1 cis-regulates the expression of SLC47A2 by altering SFPQ/E2F1/HDAC1 binding to the promoter region in renal cell carcinoma.
Gao Z et al.·RNA Biol
2019
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