AP2S1 Chromosome 19
Adaptor related protein complex 2 subunit sigma 1
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What This Gene Does
One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
Adaptor related protein complex 2
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000042753
Associated Conditions (10)
Neurodevelopmental disorder
Familial hypocalciuric hypercalcemia 3
AP2S1-related disorder
Inborn genetic diseases
AP2S1-related Neurodevelopmental disorder
Autism
Delayed speech and language development
Motor delay
Seizure
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
Key Variants
RS1064795235
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Familial hypocalciuric hypercalcemia 3, AP2S1-related disorder
Health Risk
RS1172216017
Conflicting classifications of pathogenicity
Familial hypocalciuric hypercalcemia 3, Familial hypocalciuric hypercalcemia 3
Health Risk
RS201686470
Conflicting classifications of pathogenicity
Health Risk
RS773768685
Conflicting classifications of pathogenicity
Familial hypocalciuric hypercalcemia 3, Familial hypocalciuric hypercalcemia 3
Health Risk
RS397514498
Pathogenic
Familial hypocalciuric hypercalcemia 3, AP2S1-related disorder, Familial hypocalciuric hypercalcemia 3
Health Risk
RS397514499
Pathogenic/Likely pathogenic
Familial hypocalciuric hypercalcemia 3, AP2S1-related disorder, Familial hypocalciuric hypercalcemia 3
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064795235 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Familial hypocalciuric hypercalcemia 3, AP2S1-related disorder |
| RS1172216017 | Health Risk | Conflicting classifications of pathogenicity | Familial hypocalciuric hypercalcemia 3, Familial hypocalciuric hypercalcemia 3 |
| RS201686470 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773768685 | Health Risk | Conflicting classifications of pathogenicity | Familial hypocalciuric hypercalcemia 3, Familial hypocalciuric hypercalcemia 3 |
| RS397514498 | Health Risk | Pathogenic | Familial hypocalciuric hypercalcemia 3, AP2S1-related disorder, Familial hypocalciuric hypercalcemia 3 |
| RS397514499 | Health Risk | Pathogenic/Likely pathogenic | Familial hypocalciuric hypercalcemia 3, AP2S1-related disorder, Familial hypocalciuric hypercalcemia 3 |