GCM2 Chromosome 6
Glial cells missing transcription factor 2
Upload your DNA to see your personal genotypes for variants in GCM2.
What This Gene Does
This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]
Associated Conditions (8)
Hypoparathyroidism
familial isolated
2
Hyperparathyroidism 4
Familial hypoparathyroidism
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
GCM2-related disorder
Inborn genetic diseases
Key Variants
RS104893960
Conflicting classifications of pathogenicity
Hypoparathyroidism, familial isolated, 2
Health Risk
RS139538731
Conflicting classifications of pathogenicity
Familial hypoparathyroidism, Familial hypoparathyroidism
Health Risk
RS142287570
Conflicting classifications of pathogenicity
Familial hypoparathyroidism, Hyperparathyroidism 4, Hypoparathyroidism
Health Risk
RS146395801
Conflicting classifications of pathogenicity
Hypoparathyroidism, familial isolated, 2
Health Risk
RS147168542
Conflicting classifications of pathogenicity
Familial hypoparathyroidism, Hyperparathyroidism 4, Hypoparathyroidism
Health Risk
RS184620420
Conflicting classifications of pathogenicity
Familial hypoparathyroidism, GCM2-related disorder, Familial hypoparathyroidism
Health Risk
RS549670381
Conflicting classifications of pathogenicity
Familial hypoparathyroidism, Familial hypoparathyroidism
Health Risk
RS755090999
Conflicting classifications of pathogenicity
Familial hypoparathyroidism, GCM2-related disorder, Familial hypoparathyroidism
Health Risk
RS772701925
Conflicting classifications of pathogenicity
Familial hypoparathyroidism, Familial hypoparathyroidism
Health Risk
RS1779961435
Likely pathogenic
Familial hypoparathyroidism, Familial hypoparathyroidism
Health Risk
RS2113243235
Likely pathogenic
Hyperparathyroidism 4, Hypoparathyroidism, familial isolated
Health Risk
RS2113257238
Likely pathogenic
Hyperparathyroidism 4, Hyperparathyroidism 4
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104893960 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism, familial isolated, 2 |
| RS139538731 | Health Risk | Conflicting classifications of pathogenicity | Familial hypoparathyroidism, Familial hypoparathyroidism |
| RS142287570 | Health Risk | Conflicting classifications of pathogenicity | Familial hypoparathyroidism, Hyperparathyroidism 4, Hypoparathyroidism |
| RS146395801 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism, familial isolated, 2 |
| RS147168542 | Health Risk | Conflicting classifications of pathogenicity | Familial hypoparathyroidism, Hyperparathyroidism 4, Hypoparathyroidism |
| RS184620420 | Health Risk | Conflicting classifications of pathogenicity | Familial hypoparathyroidism, GCM2-related disorder, Familial hypoparathyroidism |
| RS549670381 | Health Risk | Conflicting classifications of pathogenicity | Familial hypoparathyroidism, Familial hypoparathyroidism |
| RS755090999 | Health Risk | Conflicting classifications of pathogenicity | Familial hypoparathyroidism, GCM2-related disorder, Familial hypoparathyroidism |
| RS772701925 | Health Risk | Conflicting classifications of pathogenicity | Familial hypoparathyroidism, Familial hypoparathyroidism |
| RS1779961435 | Health Risk | Likely pathogenic | Familial hypoparathyroidism, Familial hypoparathyroidism |
| RS2113243235 | Health Risk | Likely pathogenic | Hyperparathyroidism 4, Hypoparathyroidism, familial isolated |
| RS2113257238 | Health Risk | Likely pathogenic | Hyperparathyroidism 4, Hyperparathyroidism 4 |
| RS2532749281 | Health Risk | Likely pathogenic | Hypoparathyroidism, familial isolated, 2 |
| RS532834782 | Health Risk | Likely pathogenic | GCM2-related disorder, Hyperparathyroidism 4, Hypoparathyroidism |
| RS533942394 | Health Risk | Likely pathogenic | — |
| RS780323819 | Health Risk | Likely pathogenic | — |
| RS1037528846 | Health Risk | Pathogenic | — |
| RS104893959 | Health Risk | Pathogenic | Hypoparathyroidism, familial isolated, 2 |
| RS1554103179 | Health Risk | Pathogenic | Familial hypoparathyroidism, Familial hypoparathyroidism |
| RS2113242469 | Health Risk | Pathogenic | Hypoparathyroidism, familial isolated, 2 |
| RS2113242520 | Health Risk | Pathogenic | Hypoparathyroidism, familial isolated, 2 |
| RS748513242 | Health Risk | Pathogenic | Inborn genetic diseases, Hypoparathyroidism, familial isolated |
| RS759190203 | Health Risk | Pathogenic | — |
| RS886037646 | Health Risk | Pathogenic | Hypoparathyroidism, familial isolated, 2 |
| RS200283922 | Health Risk | Pathogenic/Likely pathogenic | Hyperparathyroidism 4, Hypoparathyroidism, familial isolated |