DRP2 Chromosome X
Dystrophin related protein 2
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What This Gene Does
Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
"Zinc fingers ZZ-type|Spectrin repeat containing"
Locus Type
gene with protein product
Location
Xq22.1
Ensembl
ENSG00000102385
Associated Conditions (2)
Charcot-Marie-Tooth disease
DRP2-related disorder
Key Variants
RS1556419606
Conflicting classifications of pathogenicity
Health Risk
RS190868473
Conflicting classifications of pathogenicity
Health Risk
RS201709518
Conflicting classifications of pathogenicity
Health Risk
RS201882686
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
Health Risk
RS2523072017
Conflicting classifications of pathogenicity
DRP2-related disorder, DRP2-related disorder
Health Risk
RS368516281
Conflicting classifications of pathogenicity
Health Risk
RS749587463
Conflicting classifications of pathogenicity
Health Risk
RS756695526
Conflicting classifications of pathogenicity
Health Risk
RS765838575
Conflicting classifications of pathogenicity
Health Risk
RS766334048
Conflicting classifications of pathogenicity
Health Risk
RS771984587
Conflicting classifications of pathogenicity
Health Risk
RS776262419
Conflicting classifications of pathogenicity
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1556419606 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS190868473 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201709518 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201882686 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS2523072017 | Health Risk | Conflicting classifications of pathogenicity | DRP2-related disorder, DRP2-related disorder |
| RS368516281 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749587463 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756695526 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765838575 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766334048 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771984587 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776262419 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2147351107 | Health Risk | Likely pathogenic | — |
| RS2520281315 | Health Risk | Likely pathogenic | — |
| RS753185936 | Health Risk | Likely pathogenic | — |
| RS1234956618 | Health Risk | Pathogenic | — |
| RS1340850124 | Health Risk | Pathogenic | — |
| RS2147352443 | Health Risk | Pathogenic | — |
| RS2147354489 | Health Risk | Pathogenic | — |
| RS2520282293 | Health Risk | Pathogenic | — |
| RS2520291201 | Health Risk | Pathogenic | — |
| RS2520291370 | Health Risk | Pathogenic | — |
| RS752738977 | Health Risk | Pathogenic | — |
| RS759517614 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS781126747 | Health Risk | Pathogenic | — |