MAGED2 Chromosome X
MAGE family member D2
Upload your DNA to see your personal genotypes for variants in MAGED2.
What This Gene Does
This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"MAGE family|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
Xp11.21
Ensembl
ENSG00000102316
Associated Conditions (4)
Inborn genetic diseases
MAGED2-related disorder
6 conditions
Bartter disease type 5
Key Variants
RS141904298
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201160051
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2519305610
Conflicting classifications of pathogenicity
MAGED2-related disorder, MAGED2-related disorder
Health Risk
RS1114167295
Likely pathogenic
6 conditions, 6 conditions
Health Risk
RS2519305695
Likely pathogenic
Health Risk
RS2519310187
Likely pathogenic
Bartter disease type 5, Bartter disease type 5
Health Risk
RS878854407
Likely pathogenic
Bartter disease type 5, Bartter disease type 5
Health Risk
RS1432384861
Pathogenic
Bartter disease type 5, Bartter disease type 5
Health Risk
RS2147633958
Pathogenic
Health Risk
RS2519308659
Pathogenic
Bartter disease type 5, Bartter disease type 5
Health Risk
RS875989852
Pathogenic
Bartter disease type 5, Bartter disease type 5
Health Risk
RS878854404
Pathogenic
Bartter disease type 5, Bartter disease type 5
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141904298 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201160051 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2519305610 | Health Risk | Conflicting classifications of pathogenicity | MAGED2-related disorder, MAGED2-related disorder |
| RS1114167295 | Health Risk | Likely pathogenic | 6 conditions, 6 conditions |
| RS2519305695 | Health Risk | Likely pathogenic | — |
| RS2519310187 | Health Risk | Likely pathogenic | Bartter disease type 5, Bartter disease type 5 |
| RS878854407 | Health Risk | Likely pathogenic | Bartter disease type 5, Bartter disease type 5 |
| RS1432384861 | Health Risk | Pathogenic | Bartter disease type 5, Bartter disease type 5 |
| RS2147633958 | Health Risk | Pathogenic | — |
| RS2519308659 | Health Risk | Pathogenic | Bartter disease type 5, Bartter disease type 5 |
| RS875989852 | Health Risk | Pathogenic | Bartter disease type 5, Bartter disease type 5 |
| RS878854404 | Health Risk | Pathogenic | Bartter disease type 5, Bartter disease type 5 |
| RS878854405 | Health Risk | Pathogenic | Bartter disease type 5, Bartter disease type 5 |
| RS878854406 | Health Risk | Pathogenic | Bartter disease type 5, Bartter disease type 5 |