Gene Gene information from NCBI Gene database.
Entrez ID 10947
Gene name Adaptor related protein complex 3 subunit mu 2
Gene symbol AP3M2
Synonyms (NCBI Gene)
AP47BCLA20P47B
Chromosome 8
Chromosome location 8p11.21
Summary This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multi
miRNA miRNA information provided by mirtarbase database.
285
miRTarBase ID miRNA Experiments Reference
MIRT003104 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT024812 hsa-miR-215-5p Microarray 19074876
MIRT026147 hsa-miR-192-5p Microarray 19074876
MIRT028831 hsa-miR-26b-5p Microarray 19088304
MIRT041318 hsa-miR-193b-3p CLASH 23622248
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:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005769 Component Early endosome NAS 23247405
GO:0005794 Component Golgi apparatus IEA
GO:0006886 Process Intracellular protein transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610469 570 ENSG00000070718
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P53677
Protein name AP-3 complex subunit mu-2 (Adaptor-related protein complex 3 subunit mu-2) (Clathrin assembly protein assembly protein complex 3 mu-2 medium chain) (Clathrin coat assembly protein AP47 homolog 2) (Clathrin coat-associated protein AP47 homolog 2) (Golgi ad
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 1 137 Clathrin adaptor complex small chain Domain
PF00928 Adap_comp_sub 165 418 Adaptor complexes medium subunit family Family
Sequence
Sequence length 418
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.).
1
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
CUTANEOUS SQUAMOUS CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colonic Neoplasms Associate 38177168
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 36104170, 38177168
★☆☆☆☆
Found in Text Mining only
Hypoxia Associate 38177168
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 38177168
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 38177168
★☆☆☆☆
Found in Text Mining only
Obesity Associate 26545512
★☆☆☆☆
Found in Text Mining only
Prediabetic State Associate 26545512
★☆☆☆☆
Found in Text Mining only