Identity
HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
AP17,CLAPS2,FBH3,FBHOk,HHC3
FUSION GENES
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: 1175
MIM: 602242
HGNC: 565
Ensembl: ENSG00000042753
Variants:
dbSNP: 1175
ClinVar: 1175
TCGA: ENSG00000042753
COSMIC: AP2S1
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36412210 | 2023 | AP2S1 regulates APP degradation through late endosome-lysosome fusion in cells and APP/PS1 mice. | 6 |
| 36412210 | 2023 | AP2S1 regulates APP degradation through late endosome-lysosome fusion in cells and APP/PS1 mice. | 6 |
| 34032851 | 2021 | Mechanism of p38 MAPK-induced EGFR endocytosis and its crosstalk with ligand-induced pathways. | 14 |
| 34032851 | 2021 | Mechanism of p38 MAPK-induced EGFR endocytosis and its crosstalk with ligand-induced pathways. | 14 |
| 29420171 | 2018 | AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity. | 34 |
| 29420171 | 2018 | AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity. | 34 |
| 27913609 | 2017 | AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia. | 9 |
| 28176280 | 2017 | Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. | 11 |
| 27913609 | 2017 | AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia. | 9 |
| 28176280 | 2017 | Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. | 11 |
| 26082470 | 2015 | Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects. | 44 |
| 26082470 | 2015 | Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects. | 44 |
| 24423332 | 2014 | Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism. | 4 |
| 24708097 | 2014 | Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). | 6 |
| 24731014 | 2014 | Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. | 21 |
Citation
Dessen P
AP2S1 (adaptor related protein complex 2 subunit sigma 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60401/ap2s1-(adaptor-related-protein-complex-2-subunit-sigma-1)
