Identity
HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
DC22,MRX59,MRXS21,MRXS5,MRXSF,PGS,SIGMA1B
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: 8905
MIM: 300629
HGNC: 560
Ensembl: ENSG00000182287
Variants:
dbSNP: 8905
ClinVar: 8905
TCGA: ENSG00000182287
COSMIC: AP1S2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37328093 | 2023 | MiR-204-5p-targeted AP1S2 is necessary for papillary thyroid carcinoma. | 0 |
| 37328093 | 2023 | MiR-204-5p-targeted AP1S2 is necessary for papillary thyroid carcinoma. | 0 |
| 30714330 | 2019 | A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review. | 6 |
| 31712557 | 2019 | Long noncoding RNA LINC00518 acts as a competing endogenous RNA to promote the metastasis of malignant melanoma via miR-204-5p/AP1S2 axis. | 35 |
| 30714330 | 2019 | A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review. | 6 |
| 31712557 | 2019 | Long noncoding RNA LINC00518 acts as a competing endogenous RNA to promote the metastasis of malignant melanoma via miR-204-5p/AP1S2 axis. | 35 |
| 23756445 | 2014 | AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). | 20 |
| 24928897 | 2014 | σ1B adaptin regulates adipogenesis by mediating the sorting of sortilin in adipose tissue. | 22 |
| 23756445 | 2014 | AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). | 20 |
| 24928897 | 2014 | σ1B adaptin regulates adipogenesis by mediating the sorting of sortilin in adipose tissue. | 22 |
| 18428203 | 2008 | Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. | 21 |
| 18428203 | 2008 | Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. | 21 |
| 17617514 | 2007 | Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. | 31 |
| 17617514 | 2007 | Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. | 31 |
Citation
Dessen P
AP1S2 (adaptor related protein complex 1 subunit sigma 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60400/new-content/cancer-prone-explorer/
