• Gene id: 8120

Gene Summary

• Gene Symbol: AP3B2   Gene   UCSC   Ensembl
• Aliases: EIEE48, NAPTB
• Gene name: adaptor related protein complex 3 subunit beta 2
• Alternate names: AP-3 complex subunit beta-2, Neuronal adaptin-like protein, beta-subunit, adaptor protein complex AP-3 subunit beta-2, adaptor related protein complex 3 beta 2 subunit, beta-3B-adaptin, clathrin assembly protein complex 3 beta-2 large chain, neuron-specific ves,
• Gene location: 15q25.2 (116823303: 116820699)     Exons: 3     NC_000011.10
• Gene summary(Entrez): Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first ide
• OMIM: 602166

Protein Summary

• Protein general information: Q13367  
  • Name: AP 3 complex subunit beta 2 (Adaptor protein complex AP 3 subunit beta 2) (Adaptor related protein complex 3 subunit beta 2) (Beta 3B adaptin) (Clathrin assembly protein complex 3 beta 2 large chain) (Neuron specific vesicle coat protein beta NAP)
  • Length: 1082  
  • Mass: 119059
  • Tissue specificity: Isoform 1 expression is specific to nervous system. Expressed in nerve terminal and cell body, and is associated with nerve-terminal vesicles. Expression seen in Purkinje cells, cortical neurons, neuroectodermal tumors and graded in ce
• Sequence:

  MSAAPAYSEDKGGSAGPGEPEYGHDPASGGIFSSDYKRHDDLKEMLDTNKDSLKLEAMKRIVAMIARGKNASDLF
  PAVVKNVACKNIEVKKLVYVYLVRYAEEQQDLALLSISTFQRGLKDPNQLIRASALRVLSSIRVPIIVPIMMLAI
  KEAASDMSPYVRKTAAHAIPKLYSLDSDQKDQLIEVIEKLLADKTTLVAGSVVMAFEEVCPERIDLIHKNYRKLC
  NLLIDVEEWGQVVIISMLTRYARTQFLSPTQNESLLEENAEKAFYGSEEDEAKGAGSEETAAAAAPSRKPYVMDP
  DHRLLLRNTKPLLQSRSAAVVMAVAQLYFHLAPKAEVGVIAKALVRLLRSHSEVQYVVLQNVATMSIKRRGMFEP
  YLKSFYIRSTDPTQIKILKLEVLTNLANETNIPTVLREFQTYIRSMDKDFVAATIQAIGRCATNIGRVRDTCLNG
  LVQLLSNRDELVVAESVVVIKKLLQMQPAQHGEIIKHLAKLTDNIQVPMARASILWLIGEYCEHVPRIAPDVLRK
  MAKSFTAEEDIVKLQVINLAAKLYLTNSKQTKLLTQYVLSLAKYDQNYDIRDRARFTRQLIVPSEQGGALSRHAK
  KLFLAPKPAPVLESSFKDRDHFQLGSLSHLLNAKATGYQELPDWPEEAPDPSVRNVEVPEWTKCSNREKRKEKEK
  PFYSDSEGESGPTESADSDPESESESDSKSSSESGSGESSSESDNEDQDEDEEKGRGSESEQSEEDGKRKTKKKV
  PERKGEASSSDEGSDSSSSSSESEMTSESEEEQLEPASWSRKTPPSSKSAPATKEISLLDLEDFTPPSVQPVSPP
  AIVSTSLAADLEGLTLTDSTLVPSLLSPVSGVGRQELLHRVAGEGLAVDYTFSRQPFSGDPHMVSVHIHFSNSSD
  TPIKGLHVGTPKLPAGISIQEFPEIESLAPGESATAVMGINFCDSTQAANFQLCTQTRQFYVSIQPPVGELMAPV
  FMSENEFKKEQGKLMGMNEITEKLMLPDTCRSDHIVVQKVTATANLGRVPCGTSDEYRFAGRTLTGGSLVLLTLD
  ARPAGAAQLTVNSEKMVIGTMLVKDVIQALTQ

• Structural information:
  • Interpro: IPR026740  IPR029390  IPR026739  IPR016024  IPR002553   IPR013041  
  • STRING: ENSP00000440984
• Other Databases: GeneCards:  AP3B2  Malacards:  AP3B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0048490	anterograde synaptic vesicle 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:0030123	AP-3 adaptor complex	IEA	cellular component
GO:0006886	intracellular 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:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0048490	anterograde synaptic vesicle transport	IEA	biological process
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0030665	clathrin-coated vesicle membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0097708	intracellular vesicle	TAS	cellular component
GO:1904115	axon cytoplasm	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
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R