SLC2A12

Chr 6

solute carrier family 2 member 12

Also known as: GLUT12, GLUT8

NCBI Gene: 154091ENSG00000146411UniProt: Q8TD20

SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]

106
ClinVar variants
14
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— SLC2A12
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 85 VUS of 106 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.
0.87LOEUF
pLI 0.000
Z-score 2.00
OE 0.51 (0.32–0.87)
Tolerant

Typical tolerance to LoF variation

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.
1.31Z-score
OE missense 0.80 (0.72–0.88)
266 obs / 333.1 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.0.51 (0.32–0.87)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.80 (0.72–0.88)
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.1.14
0≤1.21.6
LoF obs/exp: 10 / 19.5Missense obs/exp: 266 / 333.1Syn Z: -1.24

ClinVar Variant Classifications

106 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
VUS85
Likely Benign7
14
Pathogenic
85
VUS
7
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
0
0
0
VUS
0
85
0
0
85
Likely Benign
0
4
0
3
7
Benign
0
0
0
0
0
Total089143106

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

View in ClinVar →

Protein Context — Lollipop Plot

SLC2A12 · 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
Gastric Cancer Heterogeneity and Clinical Outcomes.
Sexton RE et al.·Technol Cancer Res Treat
2020
GLUT12 promotes prostate cancer cell growth and is regulated by androgens and CaMKK2 signaling.
White MA et al.·Endocr Relat Cancer
2018
Development and validation of a novel model for predicting the survival of bladder cancer based on ferroptosis-related genes.
Li L et al.·Aging (Albany NY)
2022Functional
Differential Expression of Glucose Transporters and Hexokinases in Prostate Cancer with a Neuroendocrine Gene Signature: A Mechanistic Perspective for (18)F-FDG Imaging of PSMA-Suppressed Tumors.
Bakht MK et al.·J Nucl Med
2020
Unveiling the functions of five recently characterized lncRNAs in cancer progression.
Li Z et al.·Clin Transl Oncol
2025Review
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
Tin A et al.·Hum Mol Genet
2011Meta-analysis
Gene expression analysis in MCF-7 breast cancer cells treated with recombinant bromelain.
Fouz N et al.·Appl Biochem Biotechnol
2014
Analysis of the relationship between GLUT family in the progression and immune infiltration of head and neck squamous carcinoma.
Li B·Diagn Pathol
2023
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Hypoxia promotes the growth and metastasis of ovarian cancer cells by suppressing ferroptosis via upregulating SLC2A12.
Li M et al.·Exp Cell Res
2023
Single nucleotide polymorphisms in the bovine SLC2A12 and SLC5A1 glucose transporter genes - the effect on gene expression and milk traits of Holstein Friesian cows.
Zwierzchowski L et al.·Anim Biotechnol
2023
SLC2A12 of SLC2 Gene Family in Bird Provides Functional Compensation for the Loss of SLC2A4 Gene in Other Vertebrates.
Xiong Y et al.·Mol Biol Evol
2021🔓 Open AccessFunctional
Identification of GLUT12/SLC2A12 as a urate transporter that regulates the blood urate level in hyperuricemia model mice.
Toyoda Y et al.·Proc Natl Acad Sci U S A
2020🔓 Open AccessFunctional
Plasma Exosomal Long Noncoding RNA lnc-SLC2A12-10:1 as a Novel Diagnostic Biomarker for Gastric Cancer.
Zheng P et al.·Onco Targets Ther
2020🔓 Open Access
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