• Gene id: 10947

Gene Summary

• Gene Symbol: AP3M2   Gene   UCSC   Ensembl
• Aliases: AP47B, CLA20, P47B
• Gene name: adaptor related protein complex 3 subunit mu 2
• Alternate names: AP-3 complex subunit mu-2, HA1 47 kDa subunit homolog 2, HA1 47kDA subunit homolog 2, adapter-related protein complex 3 mu-2 subunit, adapter-related protein complex 3 subunit mu-2, adaptor related protein complex 3 mu 2 subunit, clathrin assembly protein assem,
• Gene location: 8p11.21 (42152945: 42171182)     Exons: 10     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 610469

Protein Summary

• Protein general information: P53677  
  • 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
  • Length: 418  
  • Mass: 46977
• Sequence:

  MIHSLFLINSSGDIFLEKHWKSVVSRSVCDYFFEAQERATEAENVPPVIPTPHHYLLSVYRHKIFFVAVIQTEVP
  PLFVIEFLHRVVDTFQDYFGVCSEPVIKDNVVVVYEVLEEMLDNGFPLATESNILKELIKPPTILRTVVNTITGS
  TNVGDQLPTGQLSVVPWRRTGVKYTNNEAYFDVIEEIDAIIDKSGSTITAEIQGVIDACVKLTGMPDLTLSFMNP
  RLLDDVSFHPCVRFKRWESERILSFIPPDGNFRLLSYHVSAQNLVAIPVYVKHNISFRDSSSLGRFEITVGPKQT
  MGKTIEGVTVTSQMPKGVLNMSLTPSQGTHTFDPVTKMLSWDVGKINPQKLPSLKGTMSLQAGASKPDENPTINL
  QFKIQQLAISGLKVNRLDMYGEKYKPFKGIKYMTKAGKFQVRT

• Structural information:
  • Protein Domains: (176..41-)
    (/note="MHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00404"-)
  • Interpro: IPR036168  IPR022775  IPR001392  IPR018240  IPR011012   IPR028565  
  • Prosite: PS00990 PS00991 PS51072
  • STRING: ENSP00000428787
• Other Databases: GeneCards:  AP3M2  Malacards:  AP3M2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0006897	endocytosis	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:0030131	clathrin adaptor complex	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0030119	AP-type membrane coat adaptor complex	TAS	cellular component
GO:0048490	anterograde synaptic vesicle transport	IEA	biological process
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881