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Gene: AP3B2 (adaptor related protein complex 3 subunit beta 2) Homo sapiens
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Symbol: AP3B2
Name: adaptor related protein complex 3 subunit beta 2
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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: adapter-related protein complex 3 subunit beta-2; adaptor protein complex AP-3 subunit beta-2; adaptor related protein complex 3 beta 2 subunit; adaptor related protein complex 3, beta 2 subunit; adaptor-related protein complex 3 subunit beta-2; adaptor-related protein complex 3, beta 2 subunit; AP-3 complex subunit beta-2; beta-3B-adaptin; clathrin assembly protein complex 3 beta-2 large chain; DKFZp686D17136; EIEE48; NAPTB; neuron-specific vesicle coat protein beta-NAP; Neuronal adaptin-like protein, beta-subunit
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381582,659,281 - 82,709,908 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371583,328,033 - 83,378,660 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361581,125,088 - 81,175,689 (-)NCBINCBI36hg18NCBI36
Build 341581,125,088 - 81,175,689NCBI
Celera1561,202,181 - 61,252,080 (+)NCBI
Cytogenetic Map15q25.2NCBI
HuRef1559,598,225 - 59,648,196 (-)NCBIHuRef
CHM1_11583,069,649 - 83,120,279 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Sequence

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Additional Information

External Database Links
Nomenclature History
 
More on AP3B2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1319021
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.