GNA11 Chromosome 19
G protein subunit alpha 11
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What This Gene Does
The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
G protein subunits alpha, group q
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000088256
Associated Conditions (12)
Lobular capillary hemangiomas
CLOVES syndrome
Capillary malformation
Segmental undergrowth associated with capillary malformation
Inborn genetic diseases
Autosomal dominant hypocalcemia 2
Familial hypocalciuric hypercalcemia 2
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
Papillary renal cell carcinoma type 1
See cases
Neoplasm
Venous malformation
Key Variants
RS1555702147
Conflicting classifications of pathogenicity
Lobular capillary hemangiomas, CLOVES syndrome, Capillary malformation
Health Risk
RS191421665
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373562448
Conflicting classifications of pathogenicity
Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2
Health Risk
RS535105766
Conflicting classifications of pathogenicity
Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2
Health Risk
RS758392443
Conflicting classifications of pathogenicity
Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2
Health Risk
RS770720811
Conflicting classifications of pathogenicity
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia, Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
Health Risk
RS776843648
Conflicting classifications of pathogenicity
Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2
Health Risk
RS1335558363
Likely pathogenic
Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2
Health Risk
RS2145325959
Likely pathogenic
Health Risk
RS2145326448
Likely pathogenic
Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
Health Risk
RS2512096499
Likely pathogenic
Health Risk
RS1057519742
Pathogenic
See cases, Neoplasm, See cases
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555702147 | Health Risk | Conflicting classifications of pathogenicity | Lobular capillary hemangiomas, CLOVES syndrome, Capillary malformation |
| RS191421665 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373562448 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2 |
| RS535105766 | Health Risk | Conflicting classifications of pathogenicity | Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2 |
| RS758392443 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2 |
| RS770720811 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperparathyroidism or Hypocalciuric hypercalcaemia, Familial hyperparathyroidism or Hypocalciuric hypercalcaemia |
| RS776843648 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2 |
| RS1335558363 | Health Risk | Likely pathogenic | Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2 |
| RS2145325959 | Health Risk | Likely pathogenic | — |
| RS2145326448 | Health Risk | Likely pathogenic | Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1 |
| RS2512096499 | Health Risk | Likely pathogenic | — |
| RS1057519742 | Health Risk | Pathogenic | See cases, Neoplasm, See cases |
| RS140749796 | Health Risk | Pathogenic | Autosomal dominant hypocalcemia 2, Autosomal dominant hypocalcemia 2 |
| RS2145325982 | Health Risk | Pathogenic | Venous malformation, Venous malformation |
| RS587777019 | Health Risk | Pathogenic | Familial hypocalciuric hypercalcemia 2, Familial hypocalciuric hypercalcemia 2 |
| RS587777022 | Health Risk | Pathogenic | Autosomal dominant hypocalcemia 2, Autosomal dominant hypocalcemia 2 |
| RS587777707 | Health Risk | Pathogenic | Autosomal dominant hypocalcemia 2, Autosomal dominant hypocalcemia 2 |
| RS672601249 | Health Risk | Pathogenic | Familial hypocalciuric hypercalcemia 2, Familial hypocalciuric hypercalcemia 2 |
| RS2145329230 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS587777021 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2, Autosomal dominant hypocalcemia 2 |