SUCLG2
Succinate-CoA Ligase GDP-Form Beta Subunit
Gene Information Card
| Symbol | SUCLG2 |
|---|---|
| Full Name | Succinate-CoA Ligase GDP-Forming Beta Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.1 |
| NCBI Gene ID | 8801 ncbi.nlm.nih.gov/gene/8801 |
| Ensembl ID | ENSG00000172340 |
| UniProt ID | Q96I99 |
| OMIM ID | 603922 |
| HGNC ID | 11450 |
| Aliases | SUCLA2B, G-SCS, SCS-betaG |
Description
SUCLG2 encodes the beta subunit of the GDP-forming succinate-CoA ligase (EC 6.2.1.4), a mitochondrial enzyme that catalyzes the conversion of succinyl-CoA to succinate in the tricarboxylic acid (TCA) cycle, coupled with GTP synthesis. The enzyme is a heterodimer composed of an alpha (SUCLG1) and a beta subunit (SUCLG2). SUCLG2 is ubiquitously expressed, with highest levels in liver, kidney, and heart.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome (MDS) | SUCLG2 mutations impair succinyl-CoA ligase activity, leading to mitochondrial dysfunction and mtDNA depletion. | ClinVar, OMIM |
| Succinyl-CoA ligase deficiency | Loss-of-function variants in SUCLG2 reduce enzyme activity, causing metabolic acidosis and encephalopathy. | OMIM, PubMed |
| Hereditary leiomyomatosis and renal cell cancer (HLRCC) | Indirect association via TCA cycle dysregulation; SUCLG2 expression altered in some tumors. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 10.8 | High |
| Heart | 9.2 | High |
| Brain | 6.1 | Medium |
| Lung | 4.3 | Medium |
| Skeletal Muscle | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK293 | 8.5 | Embryonic kidney cells |
| K562 | 5.0 | Chronic myeloid leukemia cells |
| A549 | 4.8 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Reduced enzyme activity; associated with MDS |
| c.433G>A (p.Gly145Arg) | Missense | <0.01% | Loss of function; reported in succinyl-CoA ligase deficiency |
| c.754_756del (p.Lys252del) | Deletion | <0.01% | In-frame deletion; likely damaging |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that reduce or abolish succinyl-CoA ligase activity, leading to mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported for SUCLG2.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • succinate-CoA ligase (GDP-forming) activity | • GTP binding |
| • ATP binding | • mitochondrial matrix |
| • tricarboxylic acid cycle | • succinyl-CoA metabolic process |
Pathways
• Tricarboxylic acid cycle (KEGG: hsa00020)
• Metabolic pathways (KEGG: hsa01100)
• Succinyl-CoA to succinate conversion (Reactome: R-HSA-71403)
Protein Summary
The SUCLG2 protein (beta subunit) forms a heterodimer with SUCLG1 (alpha subunit) to produce the GDP-specific succinyl-CoA ligase. This enzyme catalyzes the substrate-level phosphorylation of GDP to GTP using the energy from succinyl-CoA cleavage. The protein is localized to the mitochondrial matrix and is essential for TCA cycle flux and mitochondrial nucleotide metabolism. Defects in SUCLG2 lead to mitochondrial DNA depletion and metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUCLG2 Knockout HEK293 Cell Line | EDJ-KQ3069 | Human | 8801 | Details Get a Quote |
| SUCLG2 Knockout HCT 116 Cell Line | EDJ-KQ22966 | Human | 8801 | Details Get a Quote |
| SUCLG2 Knockout A-549 Cell Line | EDJ-KQ24342 | Human | 8801 | Details Get a Quote |
| SUCLG2 Knockout HeLa Cell Line | EDJ-KQ24344 | Human | 8801 | Details Get a Quote |
