GTPBP2: GTP-Binding Protein 2
A regulator of ribosome biogenesis and stress response implicated in neurodevelopmental disorders and cancer
Gene Information Card
| Symbol | GTPBP2 |
|---|---|
| Full Name | GTP binding protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 54676 ncbi.nlm.nih.gov/gene/54676 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q9BX10 |
| OMIM ID | 607434 |
| HGNC ID | 4670 |
| Aliases | GPBP2, GTPBP3, FLJ10656 |
Description
GTPBP2 encodes a GTP-binding protein involved in ribosome biogenesis, translation regulation, and cellular stress responses. It interacts with the ribosome and is essential for normal brain development. Mutations in GTPBP2 are associated with autosomal recessive intellectual disability and microcephaly, and the gene is implicated in cancer through altered expression and somatic mutations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 60 (MRT60) | Loss-of-function mutations impair ribosome biogenesis, leading to neuronal dysfunction | OMIM #617862; PMID: 27545674 |
| Microcephaly, postnatal progressive, with seizures and intellectual disability | Biallelic GTPBP2 variants disrupt GTPase activity and ribosome assembly | ClinVar; PMID: 27545674 |
| Cancer (various) | Somatic mutations and altered expression may affect translation fidelity and cell proliferation | COSMIC; PMID: 29056339 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| SH-SY5Y | 9.4 | Neuronal cell line |
| HepG2 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1066C>T (p.Arg356*) | Nonsense | Rare | Loss of function; truncation |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation |
| c.845G>A (p.Arg282Gln) | Missense | Rare | Likely loss of function; impaired GTP binding |
| c.1240C>T (p.Arg414Trp) | Missense | Somatic (COSMIC) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations cause complete loss of GTPBP2 function, leading to ribosome biogenesis defects and neurodevelopmental phenotypes.
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)
| • GO:0005525 - GTP binding | • GO:0003924 - GTPase activity |
| • GO:0042254 - ribosome biogenesis | • GO:0002181 - cytoplasmic translation |
| • GO:0034641 - cellular nitrogen compound metabolic process |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
• GTPase cycle (Reactome: R-HSA-983168)
Protein Summary
GTPBP2 is a 602-amino acid GTPase that localizes to the cytoplasm and nucleolus. It binds GTP and hydrolyzes it to GDP, playing a critical role in ribosome assembly and translational control. The protein contains a conserved GTP-binding domain and is widely expressed, with highest levels in brain and testis. Structural studies show it interacts with ribosomal proteins and RNA helicases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTPBP2 Knockout HEK293 Cell Line | EDC09659 | Human | 54676 | Details Get a Quote |
| GTPBP2 Knockout A-549 Cell Line | EDJ-KQ39802 | Human | 54676 | Details Get a Quote |
| GTPBP2 Knockout HCT 116 Cell Line | EDJ-KQ39803 | Human | 54676 | Details Get a Quote |
| GTPBP2 Knockout HeLa Cell Line | EDC10177 | Human | 54676 | Details Get a Quote |
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