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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC16A12
solute carrier family 16 member 12
Chromosome 10 Β· 10q23.31
NCBI Gene: 387700Ensembl: ENSG00000152779.15HGNC: HGNC:23094UniProt: Q6ZSM3
20PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranecreatine transmembrane transportcreatine transmembrane transporter activityprotein bindingjuvenile cataract-microcornea-renal glucosuria syndromeJuvenile cataract - microcornea - renal glucosuriaatrial fibrillationsmoking initiation
✦AI Summary

SLC16A12 functions primarily as a creatine and guanidinoacetate transporter that is critical for creatine homeostasis in multiple tissues 1. The transporter mediates creatine and guanidinoacetate transport independent of membrane potential and extracellular Na+, Cl-, or pH 1. In the kidney, SLC16A12 localizes to the basolateral membrane of proximal tubules where it is essential for reabsorption of creatine and guanidinoacetate from urine 1. Loss of SLC16A12 function results in decreased plasma levels and increased urinary excretion of both creatine and guanidinoacetate 1. The transporter shows continuous creatine efflux activity, contrasting with the controlled release mediated by other creatine transporters like SLC22A15 2. Disease relevance includes association with juvenile cataracts, microcornea, and glucosuria in humans carrying heterozygous mutations 1. In clear cell renal cell carcinoma, decreased SLC16A12 expression correlates with poor prognosis and serves as an independent prognostic factor 3. The gene also shows differential methylation patterns associated with maternal folate levels during pregnancy 4 and is involved in various cancer-related processes through epigenetic modifications 56.

Sources cited
1
Functions as creatine/guanidinoacetate transporter, localizes to basolateral membrane of proximal tubules, essential for renal reabsorption, associated with human disease
PMID: 33459166
2
Shows permanent creatine efflux activity unlike controlled transporters
PMID: 39792585
3
Decreased expression in clear cell renal cell carcinoma correlates with poor prognosis
PMID: 31348313
4
Shows differential methylation associated with maternal folate levels
PMID: 26861414
5
Involved in Barrett's esophagus DNA methylation patterns
PMID: 37661863
6
Associated with epigenetic changes in esophageal adenocarcinoma
PMID: 39702397
Disease Associationsβ“˜21
juvenile cataract-microcornea-renal glucosuria syndromeOpen Targets
0.70Moderate
Juvenile cataract - microcornea - renal glucosuriaOpen Targets
0.67Moderate
atrial fibrillationOpen Targets
0.50Moderate
smoking initiationOpen Targets
0.33Weak
alcohol drinkingOpen Targets
0.32Weak
abscessOpen Targets
0.28Weak
cellulitisOpen Targets
0.28Weak
cardiac arrhythmiaOpen Targets
0.27Weak
chronic obstructive pulmonary diseaseOpen Targets
0.27Weak
benign chondrogenic neoplasmOpen Targets
0.27Weak
chronic venous hypertensionOpen Targets
0.24Weak
systemic lupus erythematosusOpen Targets
0.22Weak
ptosisOpen Targets
0.20Weak
colobomaOpen Targets
0.11Weak
Developmental cataractOpen Targets
0.11Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
placental retentionOpen Targets
0.03Suggestive
Cataract 47UniProt
Pathogenic Variants3
NM_213606.4(SLC16A12):c.404C>T (p.Ala135Val)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†β†’ Residue 135
NM_213606.4(SLC16A12):c.662del (p.Gly221fs)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†2018β†’ Residue 221
NM_213606.4(SLC16A12):c.733C>T (p.Gln245Ter)Pathogenic
Juvenile cataract-microcornea-renal glucosuria syndrome
β˜†β˜†β˜†β˜†2011β†’ Residue 245
View on ClinVar β†—
Related Genes
FLVCR2Shared pathway50%SLC2A13Shared pathway50%SLC5A6Shared pathway33%SLC16A7Shared pathway33%SLC22A8Shared pathway25%SLC44A1Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Lung
32%
Ovary
12%
Brain
9%
Liver
5%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SLC16A12FLVCR2SLC2A13SLC5A6SLC16A7SLC22A8SLC44A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6ZSM3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.62LoF Tolerant
pLIβ“˜
0.16Tolerant
Observed/Expected LoF0.42 [0.29–0.62]
RankingsWhere SLC16A12 stands among ~20K protein-coding genes
  • #14,263of 20,598
    Most Researched20
  • #4,152of 5,498
    Most Pathogenic Variants3
  • #4,375of 17,882
    Most Constrained (LOEUF)0.62 Β· top quartile
Genes detectedSLC16A12
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A creatine efflux transporter in oligodendrocytes.
PMID: 39792585
FEBS J Β· 2025
1.00
2
Solute carrier SLC16A12 is critical for creatine and guanidinoacetate handling in the kidney.
PMID: 33459166
Am J Physiol Renal Physiol Β· 2021
0.90
3
Gene expression and miR profiles of human corneal fibroblasts in response to dexamethasone.
PMID: 21666241
Invest Ophthalmol Vis Sci Β· 2011
0.80
4
Distinct microbiome dysbiosis and epigenetic anomaly in esophageal adenocarcinoma and its underlying Barrett's esophagus.
PMID: 39702397
Clin Epigenetics Β· 2024
0.70
5
Protein Arginine Methyltransferases Refine the Classification of Clear Cell Renal Cell Carcinoma with Distinct Prognosis and Tumor Microenvironment Characteristics.
PMID: 37781030
Int J Biol Sci Β· 2023
0.60