SLC2A12: Solute Carrier Family 2 Member 12

Glucose Transporter GLUT12 - Gene Overview and Biomedical Significance

Gene Information Card

Symbol SLC2A12
Full Name Solute Carrier Family 2 Member 12
Gene Type Protein coding
Chromosomal Location 6q23.2
NCBI Gene ID 154091 ncbi.nlm.nih.gov/gene/154091
Ensembl ID ENSG00000146411
UniProt ID Q8TD20
OMIM ID 610372
HGNC ID 18057
Aliases GLUT12, GLUT-12

Description

SLC2A12 (Solute Carrier Family 2 Member 12) encodes GLUT12, a facilitative glucose transporter belonging to the SLC2 family. GLUT12 is involved in insulin-sensitive glucose uptake and is expressed in various tissues including heart, skeletal muscle, and adipose tissue. It may play a role in glucose homeostasis and has been implicated in cancer cell metabolism.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Overexpression of GLUT12 may enhance glucose uptake in tumor cells, supporting proliferation. PMID: 19029980; COSMIC
Prostate cancer Elevated GLUT12 expression correlates with aggressive disease and poor prognosis. PMID: 22952442; COSMIC
Type 2 diabetes Altered GLUT12 expression in insulin-sensitive tissues may contribute to insulin resistance. PMID: 15629114; OMIM 610372

Expression Profile

Tissue Expression
Tissue nTPM level
Heart 10.2 Medium
Skeletal muscle 8.5 Medium
Adipose tissue 6.1 Low
Kidney 4.3 Low
Liver 1.2 Not detected
Cell Line Expression
Cell Line nTPM Notes
MCF7 (breast cancer) 12.5 High expression
LNCaP (prostate cancer) 9.8 Moderate expression
HepG2 (liver cancer) 2.1 Low expression
HEK293 (embryonic kidney) 1.5 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1045C>T (p.Arg349Trp) Missense <0.01% Unknown; predicted benign
c.1234G>A (p.Gly412Ser) Missense <0.01% Unknown; predicted possibly damaging
c.1462_1463insA (p.Thr488Asnfs*12) Frameshift <0.01% Loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift variant p.Thr488Asnfs*12 likely results in a truncated non-functional protein.

Gain of Function (GOF)

No gain-of-function mutations reported in SLC2A12.

Dominant Negative (DN)

No dominant-negative mutations described for SLC2A12.

Gene Ontology (GO)

• GO:0005355 - glucose transmembrane transporter activity • GO:0015758 - glucose transport
• GO:0005886 - plasma membrane • GO:0016021 - integral component of membrane
• GO:0055085 - transmembrane transport

Pathways

Glucose transport (Reactome: R-HSA-189200)
Insulin regulation of glucose uptake (Reactome: R-HSA-189222)

Protein Summary

GLUT12 is a 617-amino acid facilitative glucose transporter with 12 transmembrane domains. It shares ~40% sequence identity with GLUT4 and is expressed in insulin-sensitive tissues. GLUT12 localizes to the plasma membrane and intracellular vesicles, and its translocation to the cell surface is stimulated by insulin. It may contribute to glucose uptake in muscle and fat, and its overexpression in certain cancers suggests a role in metabolic reprogramming.

Related Products

Product name Cat.No. Species Gene ID
SLC2A12 Knockout HEK293 Cell Line EDC08224 Human 154091 Details Get a Quote
SLC2A12 Knockout HeLa Cell Line EDJ-KQ39879 Human 154091 Details Get a Quote
SLC2A12 Knockout A-549 Cell Line EDJ-KQ67220 Human 154091 Details Get a Quote
SLC2A12 Knockout HCT 116 Cell Line EDJ-KQ75620 Human 154091 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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