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Ap3b2 adaptor-related protein complex 3, beta 2 subunit [ Mus musculus (house mouse) ]

Gene ID: 11775, updated on 18-Sep-2024

Summary

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Official Symbol
Ap3b2provided by MGI
Official Full Name
adaptor-related protein complex 3, beta 2 subunitprovided by MGI
Primary source
MGI:MGI:1100869
See related
Ensembl:ENSMUSG00000062444 AllianceGenome:MGI:1100869
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Naptb; beta3B; [b]-NAP; beta-NAP
Summary
Involved in anterograde synaptic vesicle transport. Predicted to be located in trans-Golgi network. Predicted to be part of AP-3 adaptor complex. Is expressed in adrenal gland; gut; nervous system; sensory organ; and testis. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 48. Orthologous to human AP3B2 (adaptor related protein complex 3 subunit beta 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in CNS E18 (RPKM 43.3), whole brain E14.5 (RPKM 36.7) and 9 other tissues See more
Orthologs
human all
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Genomic context

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See Ap3b2 in Genome Data Viewer
Location:
7 D3; 7 45.71 cM
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (81110147..81143722, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (81460399..81493997, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene cytoplasmic polyadenylation element binding protein 1 Neighboring gene small nuclear ribonucleoprotein 48 (U11/U12) pseudogene Neighboring gene ribosomal protein L7A, pseudogene 9 Neighboring gene STARR-seq mESC enhancer starr_19364 Neighboring gene cDNA sequence BC048679 Neighboring gene predicted gene, 45991

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Vesicles derived via AP-3-dependent recycling contribute to asynchronous release and influence information transfer. Evstratova A, et al. Nat Commun, 2014 Nov 20. PMID 25410111, Free PMC Article
  2. Protein-4.1G-Mediated Membrane Trafficking Is Essential for Correct Rod Synaptic Location in the Retina and for Normal Visual Function. Sanuki R, et al. Cell Rep, 2015 Feb 10. PMID 25660028
  3. The murine perilipin gene: the lipid droplet-associated perilipins derive from tissue-specific, mRNA splice variants and define a gene family of ancient origin. Lu X, et al. Mamm Genome, 2001 Sep. PMID 11641724
  4. The AP-3 complex required for endosomal synaptic vesicle biogenesis is associated with a casein kinase Ialpha-like isoform. Faundez VV, et al. Mol Biol Cell, 2000 Aug. PMID 10930456, Free PMC Article
  5. Identification of KIAA0513 and Other Hub Genes Associated With Alzheimer Disease Using Weighted Gene Coexpression Network Analysis. Zhu M, et al. Front Genet, 2020. PMID 33005179, Free PMC Article

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In AP-3b2 KO mice asynchronous neurotransmitter release is attenuated and the activity-dependent increase in the precision of action potential timing is compromised.
    Title: Vesicles derived via AP-3-dependent recycling contribute to asynchronous release and influence information transfer.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Spontaneous (2) 
  • Targeted (1)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC36656

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in anterograde axonal transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in anterograde synaptic vesicle transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in anterograde synaptic vesicle transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in clathrin-coated vesicle cargo loading, AP-3-mediated NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within intracellular protein transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in intracellular transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in synaptic vesicle coating NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in synaptic vesicle endocytosis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in synaptic vesicle endocytosis IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in synaptic vesicle recycling NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within vesicle-mediated transport TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of AP-3 adaptor complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in clathrin-coated vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
located_in early endosome NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in presynapse IDA
Inferred from Direct Assay
more info
 PubMed 
located_in trans-Golgi network TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
AP-3 complex subunit beta-2
Names
AP-3 complex beta-2 subunit
adapter-related protein complex 3 subunit beta-2
adaptor protein complex AP-3 beta-2 subunit
adaptor protein complex AP-3 subunit beta-2
adaptor-related protein complex 3 subunit beta-2
adaptor-related protein complex AP-3, beta 2 subunit
beta-3B-adaptin
beta3B-adaptin
clathrin assembly protein complex 3 beta-2 large chain

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_021492.3 → NP_067467.2  AP-3 complex subunit beta-2

    See identical proteins and their annotated locations for NP_067467.2

    Status: VALIDATED

    Source sequence(s)
    AY528675, CJ064603
    Consensus CDS
    CCDS21403.1
    UniProtKB/Swiss-Prot
    B2RTK2, Q3UYP8, Q6QR53, Q8R1E5, Q9JME5
    UniProtKB/TrEMBL
    A0A571BEW4
    Related
    ENSMUSP00000080739.8, ENSMUST00000082090.15
    Conserved Domains (4) summary
    pfam01602
    Location:34 → 590
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:123 → 262
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:804 → 947
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    sd00044
    Location:111 → 139
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    81110147..81143722 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006540571.5 → XP_006540634.1  AP-3 complex subunit beta-2 isoform X1

    UniProtKB/TrEMBL
    A0A571BES1, A0A571BEW4
    Related
    ENSMUSP00000158658.2, ENSMUST00000238438.2
    Conserved Domains (3) summary
    sd00044
    Location:111 → 139
    HEAT; HEAT repeat [structural motif]
    pfam01602
    Location:34 → 590
    Adaptin_N; Adaptin N terminal region
    pfam14796
    Location:823 → 966
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_146192.1: Suppressed sequence

    Description
    NM_146192.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JME5.2 GenPept UniProtKB/Swiss-Prot:Q9JME5

Gene LinkOut

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