AP3B2 Chromosome 15
Adaptor related protein complex 3 subunit beta 2
Upload your DNA to see your personal genotypes for variants in AP3B2.
What This Gene Does
Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
Gene Info
Gene Group
"Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3"
Locus Type
gene with protein product
Location
15q25.2
Ensembl
ENSG00000103723
Associated Conditions (6)
Inborn genetic diseases
Developmental and epileptic encephalopathy
48
AP3B2-related disorder
Clear cell carcinoma of kidney
Epileptic encephalopathy
Key Variants
RS1009906758
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1030446693
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy
Health Risk
RS1177973989
Conflicting classifications of pathogenicity
Health Risk
RS1448870522
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145841558
Conflicting classifications of pathogenicity
Health Risk
RS147455569
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 48, Inborn genetic diseases
Health Risk
RS1555464774
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy
Health Risk
RS189447069
Conflicting classifications of pathogenicity
Health Risk
RS202130220
Conflicting classifications of pathogenicity
Health Risk
RS374654361
Conflicting classifications of pathogenicity
Inborn genetic diseases, AP3B2-related disorder, Inborn genetic diseases
Health Risk
RS377729111
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 48, Clear cell carcinoma of kidney
Health Risk
RS529642370
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1009906758 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1030446693 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS1177973989 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1448870522 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145841558 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147455569 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 48, Inborn genetic diseases |
| RS1555464774 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS189447069 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202130220 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374654361 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, AP3B2-related disorder, Inborn genetic diseases |
| RS377729111 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 48, Clear cell carcinoma of kidney |
| RS529642370 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS750705900 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756807665 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757256314 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766114944 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776921804 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS779401895 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 48 |
| RS1057519269 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 48, Epileptic encephalopathy |
| RS1057519270 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 48, Epileptic encephalopathy |
| RS1238718850 | Health Risk | Likely pathogenic | — |
| RS1262859688 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS1304104449 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS1391475038 | Health Risk | Likely pathogenic | — |
| RS1481189891 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS1596183293 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS2048324730 | Health Risk | Likely pathogenic | — |
| RS2151438068 | Health Risk | Likely pathogenic | — |
| RS2151441655 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS2151449531 | Health Risk | Likely pathogenic | — |
| RS2548697395 | Health Risk | Likely pathogenic | — |
| RS2548718983 | Health Risk | Likely pathogenic | — |
| RS1057519271 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS1057519272 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS1215589381 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS1229674982 | Health Risk | Pathogenic | — |
| RS1369308468 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS1391900515 | Health Risk | Pathogenic | — |
| RS1409976651 | Health Risk | Pathogenic | — |
| RS1485425659 | Health Risk | Pathogenic | — |
| RS1486529587 | Health Risk | Pathogenic | — |
| RS1596182118 | Health Risk | Pathogenic | — |
| RS2047907532 | Health Risk | Pathogenic | — |
| RS2047958031 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 48, Developmental and epileptic encephalopathy |
| RS2151428029 | Health Risk | Pathogenic | — |
| RS2151440929 | Health Risk | Pathogenic | — |
| RS2151441246 | Health Risk | Pathogenic | — |
| RS2548696339 | Health Risk | Pathogenic | — |
| RS2548698003 | Health Risk | Pathogenic | — |
| RS2548698032 | Health Risk | Pathogenic | — |