KGD4 Gene - Alpha-Ketoglutarate Dehydrogenase Subunit 4
Genomic and Functional Insights into KGD4
Gene Information Card
| Symbol | KGD4 |
|---|---|
| Full Name | alpha-ketoglutarate dehydrogenase subunit 4 |
| Gene Type | gene with protein product |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 92259 ncbi.nlm.nih.gov/gene/92259 |
| Ensembl ID | ENSG00000134056 |
| UniProt ID | P82909 |
| OMIM ID | 611996 |
| HGNC ID | HGNC:16631 |
| Aliases | DC47, MRP-S36, MRPS36 |
Description
KGD4 (alpha-ketoglutarate dehydrogenase subunit 4) is a protein-coding gene located on chromosome 5q13.2. It encodes a subunit of the alpha-ketoglutarate dehydrogenase complex (OGDC), which is a key enzyme in the tricarboxylic acid (TCA) cycle. The protein is also known as MRPS36, a mitochondrial ribosomal protein of the small subunit. KGD4 is involved in mitochondrial metabolism and energy production. Mutations or dysregulation of KGD4 may contribute to metabolic disorders and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Mitochondrial dysfunction | KGD4 is a subunit of the alpha-ketoglutarate dehydrogenase complex; defects may impair TCA cycle and energy metabolism. | Inferred from function; limited direct clinical evidence. |
| Cancer | Altered expression of KGD4 may affect cellular metabolism and proliferation. | Expression data from COSMIC; further studies needed. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Heart | 12.3 | Medium |
| Liver | 8.5 | Low |
| Brain | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HepG2 | 10.1 | Hepatocellular carcinoma |
| A549 | 7.8 | Lung carcinoma |
| MCF7 | 5.4 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.1A>G (p.Met1?) | Missense | Rare | Potential start codon loss; likely loss of function. |
| c.100C>T (p.Arg34Trp) | Missense | Not reported | Unknown; may affect protein function. |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair the enzymatic activity of the alpha-ketoglutarate dehydrogenase complex, leading to reduced TCA cycle flux and energy production.
Gain of Function (GOF)
No evidence for gain-of-function mutations in KGD4.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial ribosome | • alpha-ketoglutarate dehydrogenase complex |
| • oxidoreductase activity | • mitochondrial matrix |
Pathways
• TCA cycle
• Metabolism
Protein Summary
The KGD4 protein (UniProt P82909) is a subunit of the alpha-ketoglutarate dehydrogenase complex (OGDC), which catalyzes the oxidative decarboxylation of alpha-ketoglutarate to succinyl-CoA in the TCA cycle. It is also a component of the mitochondrial small ribosomal subunit (MRP-S36), suggesting a dual role in protein synthesis and metabolism. The protein is localized to the mitochondrial matrix and is essential for proper mitochondrial function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KGD4 Knockout HEK293 Cell Line | EDJ-KQ10857 | Human | 92259 | Details Get a Quote |
| KGD4 Knockout HCT 116 Cell Line | EDJ-KQ37235 | Human | 92259 | Details Get a Quote |
| KGD4 Knockout A-549 Cell Line | EDJ-KQ38520 | Human | 92259 | Details Get a Quote |
| KGD4 Knockout HeLa Cell Line | EDJ-KQ38521 | Human | 92259 | Details Get a Quote |
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