• Gene id: 10239

Gene Summary

• Gene Symbol: AP3S2   Gene   UCSC   Ensembl
• Aliases: AP3S3, sigma3b
• Gene name: adaptor related protein complex 3 subunit sigma 2
• Alternate names: AP-3 complex subunit sigma-2, AP-3 complex subunit sigma-3B, adapter-related protein complex 3 subunit sigma-2, adaptor complex sigma3B, adaptor related protein complex 3 sigma 2 subunit, clathrin-associated/assembly/adaptor protein, small 4, 22-kD, sigma-3B-ad,
• Gene location: 15q26.1 (23404119: 23296896)     Exons: 14     NC_000008.11
• OMIM: 602416

Protein Summary

• Protein general information: P59780  
  • 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)
  • Length: 193  
  • Mass: 22017
  • Tissue specificity: Present in all adult tissues examined. {ECO
• Sequence:

  MIQAILVFNNHGKPRLVRFYQRFPEEIQQQIVRETFHLVLKRDDNICNFLEGGSLIGGSDYKLIYRHYATLYFVF
  CVDSSESELGILDLIQVFVETLDKCFENVCELDLIFHMDKVHYILQEVVMGGMVLETNMNEIVAQIEAQNRLEKS
  EGGLSAAPARAVSAVKNINLPEIPRNINIGDLNIKVPNLSQFV

• Structural information:
  • Interpro: IPR016635  IPR022775  IPR000804  IPR011012  
  • Prosite: PS00989
  • STRING: ENSP00000338777
• Other Databases: GeneCards:  AP3S2  Malacards:  AP3S2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0048490	anterograde synaptic vesicle transport	ISS	biological process
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0030123	AP-3 adaptor complex	IDA	cellular component
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0048490	anterograde synaptic vesicle transport	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq