Identity
HGNC
LOCATION
5q33.2
LOCUSID
ALIAS
GEMIN-5,NEDCAM
FUSION GENES
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: 25929
MIM: 607005
HGNC: 20043
Ensembl: ENSG00000082516
Variants:
dbSNP: 25929
ClinVar: 25929
TCGA: ENSG00000082516
COSMIC: GEMIN5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000082516 | ENST00000285873 | Q8TEQ6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38316953 | 2024 | Mutations of GEMIN5 are associated with coenzyme Q(10) deficiency: long-term follow-up after treatment. | 1 |
| 38773790 | 2024 | Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies. | 1 |
| 38316953 | 2024 | Mutations of GEMIN5 are associated with coenzyme Q(10) deficiency: long-term follow-up after treatment. | 1 |
| 38773790 | 2024 | Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies. | 1 |
| 36980979 | 2023 | A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy. | 4 |
| 37369805 | 2023 | SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration. | 2 |
| 36980979 | 2023 | A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy. | 4 |
| 37369805 | 2023 | SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration. | 2 |
| 35393353 | 2022 | Functional and structural deficiencies of Gemin5 variants associated with neurological disorders. | 8 |
| 35393353 | 2022 | Functional and structural deficiencies of Gemin5 variants associated with neurological disorders. | 8 |
| 33963192 | 2021 | Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. | 21 |
| 34569062 | 2021 | Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy. | 11 |
| 33963192 | 2021 | Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. | 21 |
| 34569062 | 2021 | Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy. | 11 |
| 31799608 | 2020 | Structural basis for the dimerization of Gemin5 and its role in protein recruitment and translation control. | 18 |
Citation
Dessen P
GEMIN5 (gem nuclear organelle associated protein 5)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47248/gemin5
