SLC16A12

Chr 10q23.31

solute carrier family 16 member 12

Aliases:: MCT12, CRT2
MANE:: ENST00000371790.5

OMIM: 611910 ↗NCBI: 387700 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC16A12 · Q6ZSM3

v62025-08-01

Predicted Aligned Error matrix for SLC16A12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.3/ 100

Confident

516 residues

Confidence breakdown

Very high(≥ 90)52%
Confident(70–90)24%
Low(50–70)9%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Corneal abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

juvenile cataract-microcornea-renal glucosuria syndrome
0.70
Juvenile cataract - microcornea - renal glucosuria
0.67
atrial fibrillation
0.46
smoking initiation
0.31
alcohol drinking
0.29
abscess
0.25
cellulitis
0.25
benign chondrogenic neoplasm
0.25
chronic venous hypertension
0.23
chronic obstructive pulmonary disease
0.22

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Monocarboxylate transporter 12

Functions as a transporter for creatine and as well for its precursor guanidinoacetate. Transport of creatine and GAA is independent of resting membrane potential and extracellular Na(+), Cl(-), or pH. Contributes to the process of creatine biosynthesis and distribution