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]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.87
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.87LOEUF
pLI 0.000
Z-score 2.00
OE 0.51 (0.32–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.31Z-score
OE missense 0.80 (0.72–0.88)
266 obs / 333.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.51 (0.32–0.87)
0≤0.351.4
Missense OE?0.80 (0.72–0.88)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 10 / 19.5Missense obs/exp: 266 / 333.1Syn Z: -1.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients