SLC16A12

Chr 10

solute carrier family 16 member 12

Also known as: CJMG, CRT2, CTRCT47, MCT12

NCBI Gene: 387700ENSG00000152779UniProt: Q6ZSM3

This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCataract 47

Clinical highlights

Interpreting a novel variant
A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.48
LOEUF
DN*
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.48LOEUF
pLI 0.493
Z-score 3.20
OE 0.21 (0.10–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.95Z-score
OE missense 0.84 (0.75–0.94)
233 obs / 277.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.21 (0.10–0.48)
0≤0.351.4
Missense OE?0.84 (0.75–0.94)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 4 / 19.1Missense obs/exp: 233 / 277.6Syn Z: 0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC16A12 · 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