AP1S2 (adaptor related protein complex 1 subunit sigma 2)

2014-11-01  

Identity

HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
DC22,MRX59,MRXS21,MRXS5,MRXSF,PGS,SIGMA1B
FUSION GENES

Other Information

Locus ID:

NCBI: 8905
MIM: 300629
HGNC: 560
Ensembl: ENSG00000182287

Variants:

dbSNP: 8905
ClinVar: 8905
TCGA: ENSG00000182287
COSMIC: AP1S2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182287ENST00000329235P56377
ENSG00000182287ENST00000329235Q549M9
ENSG00000182287ENST00000380291A6NH01
ENSG00000182287ENST00000450644H7BZG6
ENSG00000182287ENST00000452376H0Y673
ENSG00000182287ENST00000545766F6SFB5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
Host Interactions of HIV factorsREACTOMER-HSA-162909
The role of Nef in HIV-1 replication and disease pathogenesisREACTOMER-HSA-164952
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adaptersREACTOMER-HSA-164938
Nef mediated downregulation of MHC class I complex cell surface expressionREACTOMER-HSA-164940
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
Lysosome Vesicle BiogenesisREACTOMER-HSA-432720

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
176175142007Mutations 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.20
184282032008Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.17
237564452014AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).12
249288972014σ1B adaptin regulates adipogenesis by mediating the sorting of sortilin in adipose tissue.10
307143302019A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.1

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/ap1s2