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Gene : AP3B1 Homo sapiens

Name  ? adaptor related protein complex 3 subunit beta 1 Cytological Location  5q14.1
Brief Description  adaptor related protein complex 3 beta 1 subunit
description  This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
  • synonyms:
  • U81504,
  • NM_001271769,
  • PE,
  • HPS,
  • ADTB3A,
  • OTTHUMG00000106919,
  • ADTB3A,
  • HPS2,
  • HGNC:566,
  • AP3B1,
  • uc003kfj.5,
  • HPS2,
  • ADTB3,
  • adaptor related protein complex 3 beta 1 subunit
  • identifiers:
  • 8546,
  • ENSG00000132842,
  • AP3B1

Genome feature

Region: gene ? Length: 292430  
Location: 5:78002326-78294755 reverse strand Cyto location: 5q14.1


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Function

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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

603 SN Ps

5 Cross References

20 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results