Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54676
MIM: 607434
HGNC: 4670
Ensembl: ENSG00000172432
Variants:
dbSNP: 54676
ClinVar: 54676
TCGA: ENSG00000172432
COSMIC: GTPBP2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38118446 | 2024 | Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. | 0 |
| 38118446 | 2024 | Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. | 0 |
| 30790272 | 2019 | Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature. | 10 |
| 30790272 | 2019 | Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature. | 10 |
| 29449720 | 2018 | Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability. | 14 |
| 30108131 | 2018 | Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2. | 17 |
| 29449720 | 2018 | Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability. | 14 |
| 30108131 | 2018 | Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2. | 17 |
| 26675814 | 2016 | Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain. | 25 |
| 26675814 | 2016 | Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain. | 25 |
Citation
Dessen P
GTPBP2 (GTP binding protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64103/gtpbp2-(gtp-binding-protein-2)
