AP1S2 Chromosome X
Adaptor related protein complex 1 subunit sigma 2
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What This Gene Does
Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
Adaptor related protein complex 1
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000182287
Associated Conditions (6)
Pettigrew syndrome
Fried syndrome
Thyroid cancer
nonmedullary
1
Inborn genetic diseases
Key Variants
RS727503807
Conflicting classifications of pathogenicity
Health Risk
RS1933972061
Likely pathogenic
Pettigrew syndrome, Pettigrew syndrome
Health Risk
RS2519929432
Likely pathogenic
Health Risk
RS2519929822
Likely pathogenic
Pettigrew syndrome, Pettigrew syndrome
Health Risk
RS587776739
Likely pathogenic
Pettigrew syndrome, Pettigrew syndrome
Health Risk
RS104894735
Pathogenic
Pettigrew syndrome, Pettigrew syndrome
Health Risk
RS104894739
Pathogenic
Pettigrew syndrome, Pettigrew syndrome
Health Risk
RS1060499672
Pathogenic
Pettigrew syndrome, Pettigrew syndrome
Health Risk
RS137852213
Pathogenic
Pettigrew syndrome, Pettigrew syndrome
Health Risk
RS1555904148
Pathogenic
Health Risk
RS1555904182
Pathogenic
Pettigrew syndrome, Pettigrew syndrome
Health Risk
RS1555904878
Pathogenic
Fried syndrome, Pettigrew syndrome, Fried syndrome
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS727503807 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1933972061 | Health Risk | Likely pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS2519929432 | Health Risk | Likely pathogenic | — |
| RS2519929822 | Health Risk | Likely pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS587776739 | Health Risk | Likely pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS104894735 | Health Risk | Pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS104894739 | Health Risk | Pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS1060499672 | Health Risk | Pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS137852213 | Health Risk | Pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS1555904148 | Health Risk | Pathogenic | — |
| RS1555904182 | Health Risk | Pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS1555904878 | Health Risk | Pathogenic | Fried syndrome, Pettigrew syndrome, Fried syndrome |
| RS1934205000 | Health Risk | Pathogenic | — |
| RS1934209113 | Health Risk | Pathogenic | Pettigrew syndrome, Thyroid cancer, nonmedullary |
| RS2519914292 | Health Risk | Pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS2519914351 | Health Risk | Pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS2519915767 | Health Risk | Pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS2519929717 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519929746 | Health Risk | Pathogenic | — |
| RS587776738 | Health Risk | Pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS587777542 | Health Risk | Pathogenic | Pettigrew syndrome, Pettigrew syndrome |
| RS886041964 | Health Risk | Pathogenic | — |
| RS1934288587 | Health Risk | Pathogenic/Likely pathogenic | Pettigrew syndrome, Pettigrew syndrome |