SLC6A11

Chr 3

solute carrier family 6 member 11

Also known as: GAT-3, GAT3, GAT4

NCBI Gene: 6538ENSG00000132164UniProt: P48066OMIM: 607952

The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

OMIMResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.000
Z-score 3.15
OE 0.40 (0.26–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.56Z-score
OE missense 0.62 (0.56–0.69)
227 obs / 364.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.40 (0.26–0.64)
0≤0.351.4
Missense OE?0.62 (0.56–0.69)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 13 / 32.3Missense obs/exp: 227 / 364.6Syn Z: -0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC6A11 · 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