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 phospho... See more...

Aliases for AP3B2 Gene

Aliases for AP3B2 Gene

  • Adaptor Related Protein Complex 3 Subunit Beta 2 2 3 5
  • Clathrin Assembly Protein Complex 3 Beta-2 Large Chain 3 4
  • Adaptor Related Protein Complex 3 Beta 2 Subunit 2 3
  • Neuron-Specific Vesicle Coat Protein Beta-NAP 3 4
  • Adaptor Protein Complex AP-3 Subunit Beta-2 3 4
  • AP-3 Complex Subunit Beta-2 3 4
  • Beta-3B-Adaptin 3 4
  • Adaptor-Related Protein Complex 3 Subunit Beta-2 4
  • Neuronal Adaptin-Like Protein, Beta-Subunit 3
  • Lnc-CPEB1-2 168
  • EIEE48 3
  • NAPTB 3

External Ids for AP3B2 Gene

Previous GeneCards Identifiers for AP3B2 Gene

  • GC15P079309
  • GC15M076261
  • GC15M080912
  • GC15M081053
  • GC15M081125
  • GC15M083328
  • GC15M059598
  • GC15M082675
  • GC15M082682

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 Subunit Beta 2) is a Protein Coding gene. Diseases associated with AP3B2 include Epileptic Encephalopathy, Early Infantile, 48 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are ATM Pathway and Lysosome. Gene Ontology (GO) annotations related to this gene include binding and transporter activity. An important paralog of this gene is AP3B1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for AP3B2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AP3B2 Gene

Genomics for AP3B2 Gene

GeneHancer (GH) Regulatory Elements for AP3B2 Gene

Promoters and enhancers for AP3B2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J082708 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 539.5 +0.5 491 2.3 HNRNPK ZNF217 EP300 SIN3A NRF1 USF1 REST ZBTB10 ZBTB11 RBM34 AP3B2 piR-30444-112 piR-38716-048 SAXO2 SNHG21 C15orf40 CPEB1 HDGFL3 EFL1 ENSG00000228141
GH15J082710 Promoter 0.3 Ensembl 500.7 -1.0 -954 0.2 AP3B2 ENSG00000228141 LOC338963 lnc-AP3B2-1
GH15J082570 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 29.7 +138.2 138235 1.9 USF1 ZIC2 SAP30 CTBP1 ATF2 MXI1 ZNF341 POLR2A OSR2 WT1 CPEB1 ENSG00000260836 lnc-RPS17-2 AP3B2 RAMAC CSPG4P10
GH15J082803 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 26.2 -98.7 -98666 9.8 ZNF217 ZSCAN5C NRF1 USF1 POLR2G SP1 GTF2E2 PHF8 FOS ZFX WHAMM FSD2 lnc-WHAMM-4 AP3B2 RAMAC SCARNA15 ENSG00000252690 EFL1 GOLGA6L9 C15orf40
GH15J082585 Enhancer 0.7 Ensembl 39.3 +123.4 123445 3 CTCF TEAD4 REST ATF2 BCL11A ZBTB17 ZSCAN18 ZNF524 CEBPG EZH2 AP3B2 CSPG4P10 RAMAC GOLGA6L9 hsa-miR-5095-170 ENSG00000260836 CPEB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP3B2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AP3B2

Top Transcription factor binding sites by QIAGEN in the AP3B2 gene promoter:
  • ARP-1
  • ATF
  • FOXI1
  • FOXL1
  • FOXO1
  • GCNF
  • GCNF-1
  • GCNF-2
  • HFH-3
  • RORalpha2

Genomic Locations for AP3B2 Gene

Genomic Locations for AP3B2 Gene
chr15:82,659,281-82,709,946
(GRCh38/hg38)
Size:
50,666 bases
Orientation:
Minus strand
chr15:83,328,033-83,378,666
(GRCh37/hg19)
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

Gene Families for AP3B2 Gene

Protein Domains for AP3B2 Gene

Suggested Antigen Peptide Sequences for AP3B2 Gene

GenScript: Design optimal peptide antigens:
  • Neuron-specific vesicle coat protein beta-NAP (AP3B2_HUMAN)

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

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.

Phenotypes From GWAS Catalog for AP3B2 Gene

Gene Ontology (GO) - Molecular Function for AP3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030276 clathrin binding IEA --
genes like me logo Genes that share ontologies with AP3B2: view
genes like me logo Genes that share phenotypes with AP3B2: view

Human Phenotype Ontology for AP3B2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AP3B2 Gene

MGI Knock Outs for AP3B2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 4
nucleus 3
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

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:0030665 clathrin-coated vesicle membrane IEA --
genes like me logo Genes that share ontologies with AP3B2: view

Pathways & Interactions for AP3B2 Gene

PathCards logo

SuperPathways for AP3B2 Gene

SuperPathway Contained pathways
1 ATM Pathway
.45
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
  • ATM Pathway

Gene Ontology (GO) - Biological Process for AP3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0008089 anterograde axonal transport ISS --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IBA 21873635
GO:0048490 anterograde synaptic vesicle transport IBA,ISS --
genes like me logo Genes that share ontologies with AP3B2: view

No data available for SIGNOR curated interactions for AP3B2 Gene

Drugs & Compounds for AP3B2 Gene

No Compound Related Data Available

Transcripts for AP3B2 Gene

mRNA/cDNA for AP3B2 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
32 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
4 RNACentral transcripts :
1 LNCipedia transcripts :

CRISPR Products

Clone 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

Expression for AP3B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for AP3B2 Gene



Protein tissue co-expression partners for AP3B2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AP3B2

SOURCE GeneReport for Unigene cluster for AP3B2 Gene:

Hs.199593

mRNA Expression by UniProt/SwissProt for AP3B2 Gene:

Q13367-AP3B2_HUMAN
Tissue specificity: Isoform 1 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) (PubMed:1851215). Isoform 2 is expressed at high levels in brain and testis (PubMed:17453999).

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

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 31 30
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 31
  • 95 (a)
OneToMany
AP3B2 30
  • 90.91 (n)
-- 31
  • 60 (a)
OneToMany
dog
(Canis familiaris)
Mammalia AP3B2 31 30
  • 88.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ap3b2 17 31 30
  • 87.31 (n)
oppossum
(Monodelphis domestica)
Mammalia AP3B2 31
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap3b2 30
  • 86.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AP3B2 31
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP3B2 31 30
  • 77.23 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP3B2 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap3b2 30
  • 72.15 (n)
zebrafish
(Danio rerio)
Actinopterygii AP3B2 31
  • 73 (a)
OneToOne
ap3b2 30
  • 70.66 (n)
ap3b1 30
fruit fly
(Drosophila melanogaster)
Insecta rb 31 32
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apb-3 31
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL6 31
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5012 31
  • 53 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06569 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AP3B2: view image

Paralogs for AP3B2 Gene

Paralogs for AP3B2 Gene

(3) SIMAP similar genes for AP3B2 Gene using alignment to 6 proteins:

  • AP3B2_HUMAN
  • B7ZKR7_HUMAN
  • B7ZKS0_HUMAN
  • F5GWU4_HUMAN
  • F5GYB0_HUMAN
  • H0YH30_HUMAN
genes like me logo Genes that share paralogs with AP3B2: view

Variants for AP3B2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AP3B2 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
374848 Pathogenic: Epileptic encephalopathy, early infantile, 48 82,674,431(-) CTGGAGGTGAGTGTCC SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
598736 Pathogenic: not provided 82,659,627(-) ACAGT/A FRAMESHIFT_VARIANT
rs1057519269 Pathogenic/Likely Pathogenic: Epileptic encephalopathy; Epileptic encephalopathy, early infantile, 48 82,679,729(-) C/T SYNONYMOUS_VARIANT
rs1057519270 Likely Pathogenic: Epileptic encephalopathy; Epileptic encephalopathy, early infantile, 48 82,680,174(-) C/G SPLICE_DONOR_VARIANT
rs1057519271 Pathogenic: Epileptic encephalopathy, early infantile, 48 82,663,148(-) TGTGA/T FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for AP3B2 Gene

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)

Additional Variant Information for AP3B2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AP3B2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for AP3B2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AP3B2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AP3B2_HUMAN
  • Epileptic encephalopathy, early infantile, 48 (EIEE48) [MIM:617276]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE48 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals manifest global developmental delay, intellectual disability, absent speech, and poor, if any, motor development. {ECO:0000269 PubMed:27431290, ECO:0000269 PubMed:27889060}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AP3B2

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

No data available for 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 LS … Darnell RB (Cell 1995) 2 3 4 54
  2. Antiserum from a patient with cerebellar degeneration identifies a novel protein in Purkinje cells, cortical neurons, and neuroectodermal tumors. (PMID: 1851215) Darnell RB … Posner JB (The Journal of neuroscience : the official journal of the Society for Neuroscience 1991) 2 3 4 54
  3. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. (PMID: 27889060) Assoum M … Thevenon J (American journal of human genetics 2016) 3 4 54
  4. Association analysis between schizophrenia and the AP-3 complex genes. (PMID: 19481122) Hashimoto R … Kunugi H (Neuroscience research 2009) 3 41 54
  5. Characterization of AP3B2_v2, a novel splice variant of human AP3B2. (PMID: 17453999) Chen C … Mao Y (DNA sequence : the journal of DNA sequencing and mapping 2007) 3 4 54

Products for AP3B2 Gene

Sources for AP3B2 Gene