Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AP3B2 Gene

Aliases for AP3B2 Gene

  • Adaptor-Related Protein Complex 3, Beta 2 Subunit 2 3
  • Clathrin Assembly Protein Complex 3 Beta-2 Large Chain 3 4
  • Adaptor-Related Protein Complex 3 Subunit Beta-2 3 4
  • Neuron-Specific Vesicle Coat Protein Beta-NAP 3 4
  • Adaptor Protein Complex AP-3 Subunit Beta-2 3 4
  • Beta-3B-Adaptin 3 4
  • NAPTB 3 6
  • Adapter-Related Protein Complex 3 Subunit Beta-2 3
  • Neuronal Adaptin-Like Protein, Beta-Subunit 3
  • AP-3 Complex Subunit Beta-2 3

External Ids for AP3B2 Gene

Previous GeneCards Identifiers for AP3B2 Gene

  • GC15P079309
  • GC15M076261
  • GC15M080912
  • GC15M081053
  • GC15M081125
  • GC15M083328
  • GC15M059598

Summaries for AP3B2 Gene

Entrez Gene Summary for AP3B2 Gene

  • Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006 [PubMed 16788073]).[supplied by OMIM, Mar 2008]

GeneCards Summary for AP3B2 Gene

AP3B2 (Adaptor-Related Protein Complex 3, Beta 2 Subunit) is a Protein Coding gene. Diseases associated with AP3B2 include congenital diaphragmatic hernia. Among its related pathways are Lysosome and ATM Pathway. GO annotations related to this gene include transporter activity. An important paralog of this gene is AP3B1.

UniProtKB/Swiss-Prot for AP3B2 Gene

  • Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals

Gene Wiki entry for AP3B2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP3B2 Gene

Genomics for AP3B2 Gene

Regulatory Elements for AP3B2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AP3B2 Gene

Start:
82,659,281 bp from pter
End:
82,709,914 bp from pter
Size:
50,634 bases
Orientation:
Minus strand

Genomic View for AP3B2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP3B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP3B2 Gene

Proteins for AP3B2 Gene

  • Protein details for AP3B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13367-AP3B2_HUMAN
    Recommended name:
    AP-3 complex subunit beta-2
    Protein Accession:
    Q13367
    Secondary Accessions:
    • A4Z4T7
    • B7ZKR7
    • B7ZKS0
    • O14808
    • Q52LY8

    Protein attributes for AP3B2 Gene

    Size:
    1082 amino acids
    Molecular mass:
    119059 Da
    Quaternary structure:
    • AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2).

    Alternative splice isoforms for AP3B2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP3B2 Gene

Proteomics data for AP3B2 Gene at MOPED

Post-translational modifications for AP3B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for AP3B2 Gene

Domains for AP3B2 Gene

Suggested Antigen Peptide Sequences for AP3B2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13367

UniProtKB/Swiss-Prot:

AP3B2_HUMAN :
  • Q13367
Family:
  • Belongs to the adaptor complexes large subunit family.
genes like me logo Genes that share domains with AP3B2: view

No data available for Gene Families for AP3B2 Gene

Function for AP3B2 Gene

Molecular function for AP3B2 Gene

UniProtKB/Swiss-Prot Function:
Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals

Gene Ontology (GO) - Molecular Function for AP3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 7671305
GO:0005488 binding --
genes like me logo Genes that share ontologies with AP3B2: view
genes like me logo Genes that share phenotypes with AP3B2: view

Animal Models for AP3B2 Gene

MGI Knock Outs for AP3B2:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AP3B2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for AP3B2 Gene

Localization for AP3B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP3B2 Gene

Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP3B2 Gene COMPARTMENTS Subcellular localization image for AP3B2 gene
Compartment Confidence
golgi apparatus 5
nucleus 4
cytosol 2
plasma membrane 2
endosome 1
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AP3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0030117 membrane coat --
genes like me logo Genes that share ontologies with AP3B2: view

Pathways for AP3B2 Gene

SuperPathways for AP3B2 Gene

Superpath Contained pathways
1 Lysosome
2 ATM Pathway
genes like me logo Genes that share pathways with AP3B2: view

Pathways by source for AP3B2 Gene

1 Qiagen pathway for AP3B2 Gene
1 KEGG pathway for AP3B2 Gene

Gene Ontology (GO) - Biological Process for AP3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006892 post-Golgi vesicle-mediated transport TAS 7671305
GO:0008089 anterograde axon cargo transport ISS --
GO:0016192 vesicle-mediated transport --
GO:0048490 anterograde synaptic vesicle transport ISS --
genes like me logo Genes that share ontologies with AP3B2: view

Transcripts for AP3B2 Gene

Unigene Clusters for AP3B2 Gene

Adaptor-related protein complex 3, beta 2 subunit:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AP3B2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AP3B2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16a ·
SP1: - - - - - - - - - - - - - - - - - -
SP2: - - - - -
SP3: - - - -
SP4:
SP5:
SP6:
SP7:
SP8: - - - - -
SP9: - - - - - - - - - - - - - - -
SP10:
SP11: - - - - - - - - - - - - - - - -
SP12: - - -
SP13: - - - - - - - - - - - - - - - - - - -
SP14: - - -

ExUns: 16b ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
SP1: - -
SP2: - -
SP3: -
SP4: -
SP5: - -
SP6: - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for AP3B2 Gene

GeneLoc Exon Structure for
AP3B2
ECgene alternative splicing isoforms for
AP3B2

Expression for AP3B2 Gene

mRNA expression in normal human tissues for AP3B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AP3B2 Gene

This gene is overexpressed in Brain - Cerebellum (6.2), Brain - Cerebellar Hemisphere (5.8), Brain - Cortex (5.5), Brain - Frontal Cortex (BA9) (4.6), Brain - Anterior cingulate cortex (BA24) (4.2), and Pituitary (4.1).

Protein differential expression in normal tissues for AP3B2 Gene

This gene is overexpressed in Brain (18.0), Frontal cortex (17.1), Bone marrow mesenchymal stem cell (13.5), Fetal Brain (10.7), and Retina (8.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP3B2 Gene

SOURCE GeneReport for Unigene cluster for AP3B2 Gene Hs.199593

mRNA Expression by UniProt/SwissProt for AP3B2 Gene

Q13367-AP3B2_HUMAN
Tissue specificity: 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 cerebral cortex (deeper layers exhibit stronger expression).
genes like me logo Genes that share expressions with AP3B2: view

Expression partners for AP3B2 Gene

In Situ Assay Products

Orthologs for AP3B2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AP3B2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AP3B2 35
  • 90.91 (n)
  • 95.84 (a)
-- 36
  • 60 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
dog
(Canis familiaris)
Mammalia AP3B2 35
  • 88.49 (n)
  • 93.04 (a)
AP3B2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap3b2 35
  • 87.31 (n)
  • 93.8 (a)
Ap3b2 16
Ap3b2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP3B2 35
  • 99.64 (n)
  • 99.73 (a)
AP3B2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap3b2 35
  • 86.94 (n)
  • 93.61 (a)
oppossum
(Monodelphis domestica)
Mammalia AP3B2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP3B2 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP3B2 35
  • 77.23 (n)
  • 81.46 (a)
AP3B2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP3B2 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap3b2 35
  • 72.15 (n)
  • 79.7 (a)
zebrafish
(Danio rerio)
Actinopterygii ap3b1 35
ap3b2 35
  • 70.66 (n)
  • 76.9 (a)
AP3B2 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta rb 37
  • 64 (a)
rb 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apb-3 36
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL6 36
  • 23 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06569 35
  • 50.28 (n)
  • 42.47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5012 36
  • 53 (a)
OneToMany
Species with no ortholog for AP3B2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AP3B2 Gene

ENSEMBL:
Gene Tree for AP3B2 (if available)
TreeFam:
Gene Tree for AP3B2 (if available)

Paralogs for AP3B2 Gene

Paralogs for AP3B2 Gene

Selected SIMAP similar genes for AP3B2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with AP3B2: view

Variants for AP3B2 Gene

Sequence variations from dbSNP and Humsavar for AP3B2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs4392033 -- 82,705,115(-) tacaa(A/G)gggag intron-variant
rs4627310 -- 82,708,330(-) GGTGC(A/T)GGCCA intron-variant
rs4779050 -- 82,699,986(+) AGGGA(G/T)GCTCC intron-variant
rs4779051 -- 82,701,419(+) AACAA(A/C)AAAAA intron-variant
rs4779052 -- 82,702,814(+) cttgg(A/G)agatc intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for AP3B2 Gene

Variant ID Type Subtype PubMed ID
esv34318 CNV Loss 17911159
esv2674021 CNV Deletion 23128226
nsv817702 CNV Loss 17921354
esv23134 CNV Gain 19812545
nsv94434 CNV Loss 16902084
nsv904450 CNV Gain 21882294

Relevant External Links for AP3B2 Gene

HapMap Linkage Disequilibrium report
AP3B2
Human Gene Mutation Database (HGMD)
AP3B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP3B2 Gene

Disorders for AP3B2 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for AP3B2 Gene in MalaCards »

(1) Diseases for AP3B2 Gene including...

(1) University of Copenhagen DISEASES for AP3B2 Gene

Relevant External Links for AP3B2

Genetic Association Database (GAD)
AP3B2
Human Genome Epidemiology (HuGE) Navigator
AP3B2
genes like me logo Genes that share disorders with AP3B2: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for AP3B2 Gene

Publications for AP3B2 Gene

  1. Antiserum from a patient with cerebellar degeneration identifies a novel protein in Purkinje cells, cortical neurons, and neuroectodermal tumors. (PMID: 1851215) Darnell R.B. … Posner J.B. (J. Neurosci. 1991) 2 3 4
  2. Beta-NAP, a cerebellar degeneration antigen, is a neuron-specific vesicle coat protein. (PMID: 7671305) Newman L.S. … Darnell R.B. (Cell 1995) 2 3 4
  3. AP-3: an adaptor-like protein complex with ubiquitous expression. (PMID: 9118953) Dell'Angelica E.C. … Bonifacino J.S. (EMBO J. 1997) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Characterization of AP3B2_v2, a novel splice variant of human AP3B2. (PMID: 17453999) Chen C. … Mao Y. (DNA Seq. 2007) 3 4

Products for AP3B2 Gene

Sources for AP3B2 Gene

Back to Top

Content