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Gene : AP3B2 Homo sapiens

Name  ? adaptor related protein complex 3 subunit beta 2 Cytological Location  15q25.2
Brief Description  adaptor related protein complex 3 beta 2 subunit
description  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 identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
  • synonyms:
  • U37673,
  • adaptor related protein complex 3 beta 2 subunit,
  • OTTHUMG00000168009,
  • NAPTB,
  • AP3B2,
  • NM_001278511,
  • uc010uoh.4,
  • HGNC:567,
  • EIEE48,
  • NAPTB
  • identifiers:
  • 8120,
  • ENSG00000103723,
  • AP3B2

Genome feature

Region: gene ? Length: 50628  
Location: 15:82659281-82709908 reverse strand Cyto location: 15q25.2


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Function

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1 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

1 Pathways

2011 SN Ps

5 Cross References

20 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results