Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8120
MIM: 602166
HGNC: 567
Ensembl: ENSG00000103723
Variants:
dbSNP: 8120
ClinVar: 8120
TCGA: ENSG00000103723
COSMIC: AP3B2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Lysosome | KEGG | ko04142 |
| Lysosome | KEGG | hsa04142 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35508598 | 2022 | Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome. | 0 |
| 36356440 | 2022 | Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity. | 0 |
| 35508598 | 2022 | Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome. | 0 |
| 36356440 | 2022 | Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity. | 0 |
| 34042275 | 2021 | Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15. | 2 |
| 34042275 | 2021 | Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15. | 2 |
| 31371564 | 2019 | Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG. | 15 |
| 31371564 | 2019 | Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG. | 15 |
| 27889060 | 2016 | Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. | 21 |
| 27889060 | 2016 | Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. | 21 |
| 26643602 | 2015 | Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitis. | 8 |
| 26643602 | 2015 | Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitis. | 8 |
| 19481122 | 2009 | Association analysis between schizophrenia and the AP-3 complex genes. | 8 |
| 19481122 | 2009 | Association analysis between schizophrenia and the AP-3 complex genes. | 8 |
| 17453999 | 2007 | Characterization of AP3B2_v2, a novel splice variant of human AP3B2. | 0 |
Citation
Dessen P
AP3B2 (adaptor related protein complex 3 subunit beta 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60403/ap3b2-(adaptor-related-protein-complex-3-subunit-beta-2)
