GOLGA2 Chromosome 9
Golgin A2
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What This Gene Does
The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Golgins
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000167110
Associated Conditions (5)
GOLGA2-related disorder
Neuromuscular disease
Developmental delay with hypotonia
myopathy
and brain abnormalities
Key Variants
RS72756867
Conflicting classifications of pathogenicity
GOLGA2-related disorder, GOLGA2-related disorder
Health Risk
RS1830019170
Likely pathogenic
Neuromuscular disease, Developmental delay with hypotonia, myopathy
Health Risk
RS2539176777
Likely pathogenic
Health Risk
RS1247511938
Pathogenic
Health Risk
RS2539204690
Pathogenic
Developmental delay with hypotonia, myopathy, and brain abnormalities
Health Risk
RS2539213235
Pathogenic
Developmental delay with hypotonia, myopathy, and brain abnormalities
Health Risk
RS2539254386
Pathogenic
Health Risk
RS769805966
Pathogenic
Health Risk
RS201878233
Pathogenic/Likely pathogenic
Developmental delay with hypotonia, myopathy, and brain abnormalities
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS72756867 | Health Risk | Conflicting classifications of pathogenicity | GOLGA2-related disorder, GOLGA2-related disorder |
| RS1830019170 | Health Risk | Likely pathogenic | Neuromuscular disease, Developmental delay with hypotonia, myopathy |
| RS2539176777 | Health Risk | Likely pathogenic | — |
| RS1247511938 | Health Risk | Pathogenic | — |
| RS2539204690 | Health Risk | Pathogenic | Developmental delay with hypotonia, myopathy, and brain abnormalities |
| RS2539213235 | Health Risk | Pathogenic | Developmental delay with hypotonia, myopathy, and brain abnormalities |
| RS2539254386 | Health Risk | Pathogenic | — |
| RS769805966 | Health Risk | Pathogenic | — |
| RS201878233 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with hypotonia, myopathy, and brain abnormalities |