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: 54551
MIM: 605283
HGNC: 6814
Ensembl: ENSG00000254585
Variants:
dbSNP: 54551
ClinVar: 54551
TCGA: ENSG00000254585
COSMIC: MAGEL2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000254585 | ENST00000650528 | Q9UJ55 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36243518 | 2023 | Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. | 2 |
| 36637363 | 2023 | Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome. | 3 |
| 36243518 | 2023 | Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. | 2 |
| 36637363 | 2023 | Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome. | 3 |
| 32879135 | 2020 | Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production. | 31 |
| 32879135 | 2020 | Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production. | 31 |
| 31114935 | 2019 | Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine. | 3 |
| 31397880 | 2019 | MAGEL2-related disorders: A study and case series. | 18 |
| 31504653 | 2019 | Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. | 10 |
| 31114935 | 2019 | Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine. | 3 |
| 31397880 | 2019 | MAGEL2-related disorders: A study and case series. | 18 |
| 31504653 | 2019 | Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. | 10 |
| 29343559 | 2018 | A genetic locus for paranoia. | 7 |
| 29389715 | 2018 | Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene. | 10 |
| 29599419 | 2018 | Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. | 19 |
Citation
Dessen P
MAGEL2 (MAGE family member L2)
Atlas Genet Cytogenet Oncol Haematol. 2015-02-01
Online version: http://atlasgeneticsoncology.org/gene/55067/magel2-(mage-family-member-l2)
