Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10239
Gene name Gene Name - the full gene name approved by the HGNC.
Adaptor related protein complex 3 subunit sigma 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AP3S2
Synonyms (NCBI Gene) Gene synonyms aliases
AP3S3, sigma3b
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031161 hsa-miR-19b-3p Sequencing 20371350
MIRT031346 hsa-miR-18a-5p Sequencing 20371350
MIRT050499 hsa-miR-20a-5p CLASH 23622248
MIRT517295 hsa-miR-508-5p PAR-CLIP 20371350
MIRT517294 hsa-miR-449b-3p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005769 Component Early endosome NAS 23247405
GO:0005794 Component Golgi apparatus IEA
GO:0006886 Process Intracellular protein transport IEA
GO:0006896 Process Golgi to vacuole transport IEA
GO:0008021 Component Synaptic vesicle IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602416 571 ENSG00000157823
Protein
UniProt ID P59780
Protein name AP-3 complex subunit sigma-2 (AP-3 complex subunit sigma-3B) (Adaptor-related protein complex 3 subunit sigma-2) (Sigma-3B-adaptin) (Sigma3B-adaptin) (Sigma-adaptin 3b)
Protein function Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01217 Clat_adaptor_s 1 148 Clathrin adaptor complex small chain Domain
Tissue specificity TISSUE SPECIFICITY: Present in all adult tissues examined. {ECO:0000269|PubMed:9118953}.
Sequence
Sequence length 193
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Lysosome  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes, Type 2 diabetes or prostate cancer (pleiotropy), Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2) N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carotid Stenosis Associate 20966410
Diabetes Mellitus Associate 30907055
Diabetes Mellitus Type 2 Associate 21874001, 23029454, 23372846, 26395551, 28399188
Obesity Associate 26395551, 28399188, 30021629