Gene Gene information from NCBI Gene database.
Entrez ID 10239
Gene name Adaptor related protein complex 3 subunit sigma 2
Gene symbol AP3S2
Synonyms (NCBI Gene)
AP3S3sigma3b
Chromosome 15
Chromosome location 15q26.1
miRNA miRNA information provided by mirtarbase database.
1287
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602416 571 ENSG00000157823
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC EYE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carotid Stenosis Carotid artery stenosis Pubtator 20966410 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 30907055 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 21874001, 23029454, 23372846, 26395551, 28399188 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 21874001, 23029454, 23372846, 28399188
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 21874001, 24509480, 28869590, 30595370, 30718926
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus CTD_human_DG 21874001
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASDB_DG 21874001, 23300278, 24509480
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Obesity Obesity BEFREE 26395551, 29081791
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 26395551, 28399188, 30021629 Associate
★☆☆☆☆
Found in Text Mining only