DERA Gene - Deoxyribose-Phosphate Aldolase
Comprehensive gene information for DERA (Deoxyribose-Phosphate Aldolase) including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | DERA |
|---|---|
| Full Name | Deoxyribose-Phosphate Aldolase |
| Gene Type | Protein coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 51071 ncbi.nlm.nih.gov/gene/51071 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q9Y315 |
| OMIM ID | 608023 |
| HGNC ID | 2841 |
| Aliases | DeoC, deoxyribose-phosphate aldolase, DERA1 |
Description
The DERA gene encodes deoxyribose-phosphate aldolase, an enzyme involved in the pentose phosphate pathway and nucleotide metabolism. It catalyzes the reversible aldol condensation of acetaldehyde with D-glyceraldehyde-3-phosphate to form 2-deoxy-D-ribose-5-phosphate, playing a role in deoxyribose metabolism and DNA synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may affect nucleotide metabolism and DNA repair; somatic mutations observed in tumors. | COSMIC; PMID: 26619011 |
| Breast cancer | Overexpression linked to metabolic reprogramming; potential biomarker. | COSMIC; PMID: 25485619 |
| Hepatocellular carcinoma | Downregulation associated with poor prognosis; metabolic dysregulation. | COSMIC; PMID: 28878321 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.1 | Low |
| Brain | 6.3 | Low |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Liver cancer cell line |
| MCF7 | 9.5 | Breast cancer cell line |
| A549 | 7.8 | Lung cancer cell line |
| HEK293 | 11.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.214C>T | Nonsense | <0.01% | Predicted loss of function |
| c.350G>A | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.214C>T) likely cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • deoxyribose-phosphate aldolase activity | • catalytic activity |
| • pentose-phosphate shunt | • nucleotide metabolic process |
| • DNA metabolic process |
Pathways
• Pentose phosphate pathway
• Nucleotide metabolism
Protein Summary
Deoxyribose-phosphate aldolase (DERA) is a 318-amino acid protein that functions as a homodimer. It catalyzes the reversible aldol cleavage of 2-deoxy-D-ribose-5-phosphate to D-glyceraldehyde-3-phosphate and acetaldehyde. The enzyme is involved in the pentose phosphate pathway and is essential for deoxyribose metabolism. DERA has been studied for its role in cancer metabolism and as a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DERA Knockout HEK293 Cell Line | EDJ-KQ10902 | Human | 51071 | Details Get a Quote |
| DERA Knockout HeLa Cell Line | EDJ-KQ37321 | Human | 51071 | Details Get a Quote |
| DERA Knockout A-549 Cell Line | EDJ-KQ38614 | Human | 51071 | Details Get a Quote |
| DERA Knockout HCT 116 Cell Line | EDJ-KQ38615 | Human | 51071 | Details Get a Quote |
