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Aliases for AP3B2 Gene

Aliases for AP3B2 Gene

  • Adaptor Related Protein Complex 3 Beta 2 Subunit 2 3 5
  • 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
  • Adaptor-Related Protein Complex 3, Beta 2 Subunit 2
  • Neuronal Adaptin-Like Protein, Beta-Subunit 3
  • AP-3 Complex Subunit Beta-2 3
  • EIEE48 3
  • NAPTB 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 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]

GeneCards Summary for AP3B2 Gene

AP3B2 (Adaptor Related Protein Complex 3 Beta 2 Subunit) is a Protein Coding gene. Diseases associated with AP3B2 include Paraneoplastic Neurologic Disorders. Among its related pathways are ATM Pathway and Lysosome. GO annotations related to this gene include binding and 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP3B2 Gene

Genomics for AP3B2 Gene

Regulatory Elements for AP3B2 Gene

Enhancers for AP3B2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G082803 2 FANTOM5 Ensembl ENCODE dbSUPER 26.2 -98.7 -98698 9.8 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 WHAMM AP3B2 FAM103A1 SCARNA15 EFL1 GOLGA6L9 C15orf40 GC15M082841
GH15G082708 1 ENCODE 47.3 +0.6 583 2.0 HDGF PKNOX1 ZNF133 ARID4B SIN3A ZNF48 ZNF766 GLIS2 ELK1 ZNF143 AP3B2 SAXO2 SNHG21 CPEB1 C15orf40 CPEB1-AS1 HDGFL3 EFL1 PIR57194
GH15G082570 1.2 FANTOM5 ENCODE 29.7 +138.2 138204 1.9 HDGF ATF1 INSM2 ZNF76 KLF17 GLIS2 ZNF366 CREM EGR2 ZNF263 AP3B2 FAM103A1 CSPG4P10 CPEB1 ENSG00000260836 GC15P082601
GH15G083010 1.1 ENCODE 18.6 -301.5 -301546 2.8 HDGF CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B FAM103A1 SNHG21 C15orf40 CPEB1 CPEB1-AS1 AP3B2 WHAMM ENSG00000260579 HOMER2 BTBD1
GH15G083060 2 FANTOM5 Ensembl ENCODE dbSUPER 8.1 -354.8 -354809 7.5 HDGF HNRNPUL1 PKNOX1 FOXA2 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 C15orf40 BTBD1 TM6SF1 SNHG21 FAM103A1 AP3B2 GOLGA6L9 WHAMM MIR4515 GC15P083164
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AP3B2 on UCSC Golden Path with GeneCards custom track

Promoters for AP3B2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080236 214 1001 PKNOX1 ZNF133 ARID4B SIN3A ZNF766 GLIS2 ELK1 ZNF143 FOS KLF7

Genomic Location for AP3B2 Gene

Chromosome:
15
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

Genes around AP3B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP3B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for AP3B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AP3B2 Gene

Domains & Families 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 :
  • Belongs to the adaptor complexes large subunit family.
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
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

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP3B2 gene
Compartment Confidence
golgi apparatus 5
nucleus 3
cytosol 3
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for AP3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0030117 membrane coat IEA --
GO:0030123 AP-3 adaptor complex IEA --
GO:0030131 clathrin adaptor complex IEA --
genes like me logo Genes that share ontologies with AP3B2: view

Pathways & Interactions for AP3B2 Gene

SuperPathways for AP3B2 Gene

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

Pathways by source for AP3B2 Gene

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

Gene Ontology (GO) - Biological Process for AP3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006892 post-Golgi vesicle-mediated transport TAS 7671305
GO:0008089 anterograde axonal transport ISS --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with AP3B2: view

No data available for SIGNOR curated interactions for AP3B2 Gene

Transcripts for AP3B2 Gene

Unigene Clusters for AP3B2 Gene

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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.2), Brain - Cerebellar Hemisphere (x5.8), Brain - Cortex (x5.5), Brain - Frontal Cortex (BA9) (x4.6), Brain - Anterior cingulate cortex (BA24) (x4.2), and Pituitary (x4.1).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AP3B2 Gene



Protein tissue co-expression partners for AP3B2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AP3B2 Gene:

AP3B2

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).

Evidence on tissue expression from TISSUES for AP3B2 Gene

  • Nervous system(4.6)
  • Intestine(4.5)
  • Eye(2.5)
  • Kidney(2.3)
  • Liver(2.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with AP3B2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AP3B2 Gene

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
chimpanzee
(Pan troglodytes)
Mammalia AP3B2 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 95 (a)
OneToMany
AP3B2 34
  • 90.91 (n)
-- 35
  • 60 (a)
OneToMany
dog
(Canis familiaris)
Mammalia AP3B2 34 35
  • 88.49 (n)
mouse
(Mus musculus)
Mammalia Ap3b2 34 16 35
  • 87.31 (n)
oppossum
(Monodelphis domestica)
Mammalia AP3B2 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap3b2 34
  • 86.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AP3B2 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP3B2 34 35
  • 77.23 (n)
lizard
(Anolis carolinensis)
Reptilia AP3B2 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap3b2 34
  • 72.15 (n)
zebrafish
(Danio rerio)
Actinopterygii AP3B2 35
  • 73 (a)
OneToOne
ap3b2 34
  • 70.66 (n)
ap3b1 34
fruit fly
(Drosophila melanogaster)
Insecta rb 36 35
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea apb-3 35
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL6 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5012 35
  • 53 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06569 34
  • 50.28 (n)
Species where no ortholog for AP3B2 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs1057519269 Pathogenic 82,679,729(-) CTGAA(A/G)GTGAG intron-variant, nc-transcript-variant, reference, synonymous-codon
rs1057519270 Pathogenic 82,680,174(-) GCCGG(C/G)TGAGC intron-variant, splice-donor-variant
rs1057519271 Pathogenic 82,663,149(-) GACAC(-/TCAC)AGACT intron-variant, nc-transcript-variant, reference, frameshift-variant
rs1057519272 Pathogenic 82,666,762(-) TCTTG(-/G)AGTCA intron-variant, nc-transcript-variant, reference, frameshift-variant
rs775024756 Pathogenic 82,689,223(+) TCCTC(A/G)GGCAA intron-variant, nc-transcript-variant, reference, stop-gained

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

Variant ID Type Subtype PubMed ID
dgv2637n100 CNV gain 25217958
esv23134 CNV gain 19812545
esv2674021 CNV deletion 23128226
esv34318 CNV loss 17911159
esv3637058 CNV gain 21293372
nsv1120052 OTHER inversion 24896259
nsv817702 CNV loss 17921354
nsv94434 CNV deletion 16902084
nsv952013 CNV deletion 24416366

Variation tolerance for AP3B2 Gene

Residual Variation Intolerance Score: 12.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.29; 53.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP3B2 Gene

Human Gene Mutation Database (HGMD)
AP3B2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP3B2

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

Disorders for AP3B2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AP3B2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
paraneoplastic neurologic disorders
  • pnd
- elite association - COSMIC cancer census association via MalaCards
Search AP3B2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AP3B2

Genetic Association Database (GAD)
AP3B2
Human Genome Epidemiology (HuGE) Navigator
AP3B2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP3B2
genes like me logo Genes that share disorders with AP3B2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AP3B2 Gene

Publications for AP3B2 Gene

  1. 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 64
  2. 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 64
  3. Association analysis between schizophrenia and the AP-3 complex genes. (PMID: 19481122) Hashimoto R. … Kunugi H. (Neurosci. Res. 2009) 3 46 64
  4. Characterization of AP3B2_v2, a novel splice variant of human AP3B2. (PMID: 17453999) Chen C. … Mao Y. (DNA Seq. 2007) 3 4 64
  5. 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 64

Products for AP3B2 Gene

Sources for AP3B2 Gene

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