TKTL2 Gene - Transketolase Like 2
A gene encoding a transketolase-related enzyme involved in the pentose phosphate pathway and associated with metabolic and neoplastic processes.
Gene Information Card
| Symbol | TKTL2 |
|---|---|
| Full Name | Transketolase Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q32.3 |
| NCBI Gene ID | 84076 ncbi.nlm.nih.gov/gene/84076 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9H0I9 |
| OMIM ID | 608862 |
| HGNC ID | 17767 |
| Aliases | TKT2, TKT-like 2, transketolase 2 |
Description
TKTL2 (Transketolase Like 2) is a protein-coding gene located on chromosome 4q32.3. It encodes an enzyme related to transketolase, a key enzyme in the non-oxidative branch of the pentose phosphate pathway (PPP). TKTL2 is involved in cellular metabolism, particularly in the conversion of sugar phosphates, and has been implicated in cancer cell proliferation and metabolic reprogramming. The gene is expressed in various tissues and is upregulated in certain malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | TKTL2 overexpression may enhance flux through the pentose phosphate pathway, promoting nucleotide synthesis and redox balance in tumor cells. | COSMIC; literature (e.g., Langbein et al., 2006) |
| Metabolic disorders | Altered TKTL2 expression may affect glucose metabolism and contribute to metabolic syndrome phenotypes. | OMIM; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line; moderate expression |
| HepG2 | 11.7 | Hepatocellular carcinoma; medium expression |
| MCF7 | 8.9 | Breast cancer; low-medium expression |
| A549 | 10.3 | Lung cancer; medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.1456G>A (p.Gly486Ser) | Missense | <0.01% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression in cancer may be due to transcriptional regulation.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • transketolase activity (GO:0004802) | • pentose-phosphate shunt (GO:0006098) |
| • transferase activity (GO:0016740) | • cytosol (GO:0005829) |
Pathways
• Pentose phosphate pathway (non-oxidative branch) - Reactome R-HSA-71336
• Metabolism of carbohydrates - Reactome R-HSA-71387
Protein Summary
The TKTL2 protein (UniProt Q9H0I9) is a 623-amino acid enzyme belonging to the transketolase family. It catalyzes the transfer of two-carbon ketol groups in the non-oxidative phase of the pentose phosphate pathway, interconverting sugar phosphates such as xylulose-5-phosphate, ribose-5-phosphate, and sedoheptulose-7-phosphate. The protein is localized in the cytosol and is expressed in multiple tissues. Its activity is implicated in cellular proliferation and cancer metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TKTL2 Knockout HEK293 Cell Line | EDJ-KQ9160 | Human | 84076 | Details Get a Quote |
| TKTL2 Knockout HeLa Cell Line | EDJ-KQ57530 | Human | 84076 | Details Get a Quote |
| TKTL2 Knockout A-549 Cell Line | EDJ-KQ66028 | Human | 84076 | Details Get a Quote |
| TKTL2 Knockout HCT 116 Cell Line | EDJ-KQ74452 | Human | 84076 | Details Get a Quote |
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