SLC16A13

Solute Carrier Family 16 Member 13

Gene Information Card

Symbol SLC16A13
Full Name Solute Carrier Family 16 Member 13
Gene Type protein-coding
Chromosomal Location 17p13.1
NCBI Gene ID 201232 ncbi.nlm.nih.gov/gene/201232
Ensembl ID ENSG00000141510
UniProt ID Q7Z7H8
OMIM ID 616161
HGNC ID 26462
Aliases MCT13, MCT-13

Description

SLC16A13 (Solute Carrier Family 16 Member 13) is a protein-coding gene that encodes a member of the monocarboxylate transporter (MCT) family. The protein is predicted to transport monocarboxylates such as lactate, pyruvate, and ketone bodies across the plasma membrane. It is expressed in various tissues and has been implicated in metabolic processes and certain diseases.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Type 2 diabetes Genetic association studies have linked SLC16A13 variants to altered risk of type 2 diabetes, possibly through effects on lactate transport and insulin secretion. GWAS and meta-analysis (PMID: 24509480)
Hyperuricemia SLC16A13 polymorphisms have been associated with serum uric acid levels and gout risk. Genome-wide association study (PMID: 23263486)

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 2.3 Low
Kidney 1.8 Low
Heart 0.9 Not detected
Brain 0.5 Not detected
Skeletal Muscle 0.3 Not detected
Cell Line Expression
Cell Line nTPM Notes
HepG2 1.5 Hepatocellular carcinoma cell line
HEK293 0.8 Embryonic kidney cells
K562 0.2 Chronic myelogenous leukemia
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
rs1171614 SNP 0.15 (East Asian) Intronic variant associated with type 2 diabetes risk
rs1171615 SNP 0.10 (European) Associated with uric acid levels
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in ClinVar or COSMIC.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Pathways

Monocarboxylate transport (Reactome: R-HSA-433137)
SLC-mediated transmembrane transport (Reactome: R-HSA-425407)

Protein Summary

The SLC16A13 protein (UniProt Q7Z7H8) is a predicted 12-transmembrane domain transporter belonging to the monocarboxylate transporter family. It is thought to facilitate the proton-coupled transport of monocarboxylates such as lactate and pyruvate. Its exact substrate specificity and physiological role remain under investigation, but genetic studies link it to metabolic traits.

Related Products

Product name Cat.No. Species Gene ID
SLC16A13 Knockout HEK293 Cell Line EDJ-KQ3990 Human 201232 Details Get a Quote
SLC16A13 Knockout A-549 Cell Line EDJ-KQ27528 Human 201232 Details Get a Quote
SLC16A13 Knockout HCT 116 Cell Line EDJ-KQ27530 Human 201232 Details Get a Quote
SLC16A13 Knockout HeLa Cell Line EDJ-KQ27531 Human 201232 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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