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AP3B2 adaptor related protein complex 3 subunit beta 2 [ Homo sapiens (human) ]

Gene ID: 8120, updated on 2-Nov-2024

Summary

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Official Symbol
AP3B2provided by HGNC
Official Full Name
adaptor related protein complex 3 subunit beta 2provided by HGNC
Primary source
HGNC:HGNC:567
See related
Ensembl:ENSG00000103723 MIM:602166; AllianceGenome:HGNC:567
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DEE48; NAPTB; EIEE48
Summary
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]
Expression
Biased expression in brain (RPKM 16.0), testis (RPKM 3.0) and 1 other tissue See more
Orthologs
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Genomic context

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See AP3B2 in Genome Data Viewer
Location:
15q25.2
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (82659281..82709875, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (80523517..80574118, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (83328033..83378627, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:82825221-82825722 Neighboring gene ribosomal protein S17 Neighboring gene cytoplasmic polyadenylation element binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6750 Neighboring gene CPEB1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 5793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6751 Neighboring gene serine and arginine rich splicing factor 9 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr15:83362511-83362661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:83367432-83368224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:83368225-83369015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6753 Neighboring gene epididymal protein pseudogene Neighboring gene actin gamma 1 pseudogene 17

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Antiserum from a patient with cerebellar degeneration identifies a novel protein in Purkinje cells, cortical neurons, and neuroectodermal tumors. Darnell RB, et al. J Neurosci, 1991 May. PMID 1851215, Free PMC Article
  2. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. Assoum M, et al. Am J Hum Genet, 2016 Dec 1. PMID 27889060, Free PMC Article
  3. Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG. Honorat JA, et al. Neurology, 2019 Sep 3. PMID 31371564, Free PMC Article
  4. Characterization of AP3B2_v2, a novel splice variant of human AP3B2. Chen C, et al. DNA Seq, 2007 Jun. PMID 17453999
  5. Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity. Dilber C, et al. Clin Neurol Neurosurg, 2022 Dec. PMID 36356440

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.
    Title: Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.
  2. Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome.
    Title: Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome.
  3. Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
    Title: Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
  4. The AP3B2 antigen was identified in sera and cerebrospinal fluid of patients with sensory or cerebellar ataxia.
    Title: Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG.
  5. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
    Title: Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
  6. Our findings provide direct evidence for the association of FBXO38 and AP3B2 with severe chronic periodontitis in the Han Chinese population.
    Title: Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitis.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association analysis between schizophrenia and the AP-3 complex genes.
  8. A novel splice variant of AP3B2, AP3B2_v2, was isolated by large-scale sequencing analysis of a fetal brain cDNA library; Sequence analysis showed AP3B2_v2 missed 22 exons that existed in AP3B2_upsilon1, encoding a different putative protein
    Title: Characterization of AP3B2_v2, a novel splice variant of human AP3B2.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 48
MedGen: C4310637 OMIM: 617276 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed
Pr55(Gag) gag In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed
matrix gag In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686D17136

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in anterograde synaptic vesicle transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in clathrin-coated vesicle cargo loading, AP-3-mediated NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
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 recycling NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of AP-3 adaptor complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
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 
located_in intracellular vesicle TAS
Traceable Author Statement
more info
 PubMed 
located_in presynapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
AP-3 complex subunit beta-2
Names
Neuronal adaptin-like protein, beta-subunit
adaptor protein complex AP-3 subunit beta-2
adaptor related protein complex 3 beta 2 subunit
beta-3B-adaptin
clathrin assembly protein complex 3 beta-2 large chain
neuron-specific vesicle coat protein beta-NAP

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.

Genomic

  1. NG_052957.1 RefSeqGene

    Range
    5034..55628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278511.2 → NP_001265440.1  AP-3 complex subunit beta-2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF022152, BC143342, BQ777385
    Consensus CDS
    CCDS61736.1
    UniProtKB/TrEMBL
    A0A590UK04
    Related
    ENSP00000438721.1, ENST00000535348.5
    Conserved Domains (4) summary
    pfam01602
    Location:34 → 558
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:91 → 235
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:772 → 915
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    sd00044
    Location:42 → 66
    HEAT; HEAT repeat [structural motif]

  2. NM_001278512.2 → NP_001265441.1  AP-3 complex subunit beta-2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF022152, BC143346, BQ777385
    Consensus CDS
    CCDS61737.1
    UniProtKB/TrEMBL
    A0A5F9UJV3
    Related
    ENSP00000440984.1, ENST00000535359.6
    Conserved Domains (4) summary
    pfam01602
    Location:34 → 590
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:123 → 267
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:823 → 966
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    sd00044
    Location:111 → 139
    HEAT; HEAT repeat [structural motif]

  3. NM_001348440.2 → NP_001335369.1  AP-3 complex subunit beta-2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1, The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC105339, BC035640, BQ777385, CA311494
    Consensus CDS
    CCDS86482.1
    UniProtKB/TrEMBL
    A0A590UK69, F5GYB0
    Related
    ENSP00000440719.1, ENST00000542200.2
    Conserved Domains (1) summary
    cl26317
    Location:34 → 122
    Adaptin_N; Adaptin N terminal region

  4. NM_001348441.2 → NP_001335370.1  AP-3 complex subunit beta-2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as AP3B2_v2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AF022152, DQ092369
    UniProtKB/Swiss-Prot
    Q13367

  5. NM_004644.5 → NP_004635.2  AP-3 complex subunit beta-2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF022152, BC093739, BQ777385
    Consensus CDS
    CCDS45331.1
    UniProtKB/Swiss-Prot
    A4Z4T7, B7ZKR7, B7ZKS0, O14808, Q13367, Q52LY8
    UniProtKB/TrEMBL
    A0A5F9UJV3
    Related
    ENSP00000499235.1, ENST00000668990.2
    Conserved Domains (4) summary
    pfam01602
    Location:34 → 590
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:123 → 267
    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_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    82659281..82709875 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    80523517..80574118 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13367.2 GenPept UniProtKB/Swiss-Prot:Q13367

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