FASTKD2: FAST Kinase Domain-Containing Protein 2
Mitochondrial RNA-binding protein involved in apoptosis and mitochondrial gene expression
Gene Information Card
| Symbol | FASTKD2 |
|---|---|
| Full Name | FAST kinase domain-containing protein 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q33.3 |
| NCBI Gene ID | 22868 ncbi.nlm.nih.gov/gene/22868 |
| Ensembl ID | ENSG00000115946 |
| UniProt ID | Q9NYB0 |
| OMIM ID | 612322 |
| HGNC ID | 29160 |
| Aliases | KIAA0971, FASTKD2 |
Description
FASTKD2 encodes a mitochondrial RNA-binding protein that plays a role in mitochondrial gene expression and apoptosis. It is a member of the FASTKD family, characterized by a FAST kinase domain. The protein localizes to mitochondria and is involved in processing mitochondrial RNAs, particularly the 16S rRNA, and modulates apoptosis through interaction with BCL2 family members. Mutations in FASTKD2 are associated with mitochondrial encephalomyopathy and other neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial encephalomyopathy | Impaired mitochondrial RNA processing due to FASTKD2 mutations leads to respiratory chain deficiency and neurological symptoms | ClinVar, OMIM |
| Combined oxidative phosphorylation deficiency | Loss of FASTKD2 function disrupts mitochondrial translation and ATP production | ClinVar |
| Epileptic encephalopathy | FASTKD2 mutations cause early-onset seizures and developmental delay | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Liver | 5.3 | Low |
| Kidney | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | High expression |
| HEK293 | 12.3 | Moderate expression |
| SH-SY5Y | 9.8 | Neuronal cell line |
| HepG2 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1240C>T (p.Arg414*) | Nonsense | Rare | Loss of function, truncated protein |
| c.1585G>A (p.Gly529Arg) | Missense | Rare | Impaired RNA binding |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing mitochondrial RNA processing.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mitochondrion |
| • apoptotic process | • mitochondrial RNA processing |
| • regulation of mitochondrial translation |
Pathways
• Mitochondrial RNA processing
• Apoptosis
Protein Summary
FASTKD2 is a 710-amino acid mitochondrial protein containing a FAST kinase domain and an RNA-binding domain. It binds to mitochondrial RNAs, particularly the 16S rRNA, and facilitates their processing and translation. The protein also interacts with BCL2 family members to modulate apoptosis. Loss of function leads to mitochondrial dysfunction and neurological disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FASTKD2 Knockout HEK293 Cell Line | EDJ-KQ7023 | Human | 22868 | Details Get a Quote |
| FASTKD2 Knockout A-549 Cell Line | EDJ-KQ33093 | Human | 22868 | Details Get a Quote |
| FASTKD2 Knockout HCT 116 Cell Line | EDJ-KQ33094 | Human | 22868 | Details Get a Quote |
| FASTKD2 Knockout HeLa Cell Line | EDJ-KQ33095 | Human | 22868 | Details Get a Quote |
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