SLC2A13: Solute Carrier Family 2 Member 13 (HMT)

Glucose and fructose transporter with potential roles in metabolic and neurological disorders

Gene Information Card

Symbol SLC2A13
Full Name Solute Carrier Family 2 Member 13
Gene Type Protein coding
Chromosomal Location 12q12
NCBI Gene ID 114134 ncbi.nlm.nih.gov/gene/114134
Ensembl ID ENSG00000134690
UniProt ID Q96QE2
OMIM ID 611036
HGNC ID 15957
Aliases HMT, GLUT13, MGC138234

Description

SLC2A13 (Solute Carrier Family 2 Member 13) encodes a proton-coupled myo-inositol and glucose transporter, also known as HMT (H(+)-myo-inositol symporter) or GLUT13. It belongs to the facilitative glucose transporter family but functions as a symporter driven by a proton gradient. The protein is highly expressed in brain, particularly in hippocampus and cerebellum, and is involved in myo-inositol homeostasis, which is critical for osmoregulation and cell signaling. SLC2A13 has been implicated in metabolic disorders and neurological conditions.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Diabetes Mellitus Type 2 Altered glucose/fructose transport may contribute to insulin resistance and metabolic dysregulation PMID: 19056867
Alzheimer's Disease Dysregulation of myo-inositol transport linked to amyloid-beta pathology and cognitive decline PMID: 25619704
Autism Spectrum Disorder Variants in SLC2A13 associated with altered myo-inositol levels in brain PMID: 27329760
Epilepsy Impaired myo-inositol transport may affect neuronal excitability PMID: 28472656

Expression Profile

Tissue Expression
Tissue nTPM level
Brain (cerebral cortex) 12.5 Medium
Brain (hippocampus) 18.2 High
Brain (cerebellum) 15.8 High
Testis 6.3 Low
Kidney 4.1 Low
Liver 1.2 Not detected
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 14.7 High expression
U-87 MG (glioblastoma) 11.2 Medium expression
HEK293 (embryonic kidney) 3.5 Low expression
HepG2 (hepatocellular carcinoma) 1.8 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1003C>T (p.Arg335Trp) Missense <0.01% Reduced transport activity in vitro
c.1456G>A (p.Gly486Ser) Missense <0.01% Altered substrate specificity
c.1789_1791del (p.Phe597del) In-frame deletion <0.01% Loss of function
Mutation functional classification

Loss of Function (LOF)

c.1789_1791del (p.Phe597del) leads to complete loss of myo-inositol transport activity.

Gain of Function (GOF)

No gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Gene Ontology (GO)

• GO:0005355 (glucose transmembrane transporter activity) • GO:0015145 (myo-inositol transmembrane transporter activity)
• GO:0015293 (symporter activity) • GO:0055085 (transmembrane transport)
• GO:0016021 (integral component of membrane)

Pathways

REACT: R-HSA-425407 (SLC-mediated transmembrane transport)
REACT: R-HSA-425393 (Transport of glucose and other sugars
bile salts and organic acids
metal ions and amine compounds)
REACT: R-HSA-189200 (Cellular hexose transport)

Protein Summary

The SLC2A13 protein (HMT/GLUT13) is a 648-amino acid transmembrane transporter with 12 predicted helical domains. It functions as a proton-coupled symporter for myo-inositol and, to a lesser extent, glucose and fructose. The protein is predominantly expressed in brain, where it regulates myo-inositol levels, influencing osmoregulation, phosphoinositide signaling, and neuronal function. Structural studies indicate a conserved sugar-binding pocket and proton-binding site essential for transport activity.

Related Products

Product name Cat.No. Species Gene ID
SLC2A13 Knockout HEK293 Cell Line EDC07996 Human 114134 Details Get a Quote
SLC2A13 Knockout A-549 Cell Line EDJ-KQ25580 Human 114134 Details Get a Quote
SLC2A13 Knockout HCT 116 Cell Line EDJ-KQ25581 Human 114134 Details Get a Quote
SLC2A13 Knockout HeLa Cell Line EDJ-KQ25582 Human 114134 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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