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

Gene ID: 8120, updated on 5-Aug-2018

Summary

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; Vega:OTTHUMG00000168009
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
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

Genomic context

See AP3B2 in Genome Data Viewer
Location:
15q25.2
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (82659281..82709908, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (83328033..83378660, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S17 Neighboring gene cytoplasmic polyadenylation element binding protein 1 Neighboring gene CPEB1 antisense RNA 1 Neighboring gene serine and arginine rich splicing factor 9 pseudogene Neighboring gene epididymal protein pseudogene Neighboring gene actin gamma 1 pseudogene 17

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epileptic encephalopathy, early infantile, 48
MedGen: C4310637 OMIM: 617276 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

  • ATM Signaling Pathway, organism-specific biosystem (from WikiPathways)
    ATM Signaling Pathway, organism-specific biosystemAtaxia-telangiectasia (A-T) is a highly pleiotropic, autosomal recessive disease that leads to multisystem defects and has an intricate cellular phenotype, all linked to the functional inactivation o...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686D17136

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
post-Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
AP-3 adaptor complex IEA
Inferred from Electronic Annotation
more info
 
COPI-coated vesicle TAS
Traceable Author Statement
more info
PubMed 
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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
    5001..55628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001265440.1

    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/Swiss-Prot
    Q13367
    Related
    ENSP00000438721.1, OTTHUMP00000237555, ENST00000535348.5, OTTHUMT00000397466
    Conserved Domains (4) summary
    pfam01602
    Location:34558
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:91235
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:772915
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    sd00044
    Location:4266
    HEAT; HEAT repeat [structural motif]
  2. NM_001278512.1NP_001265441.1  AP-3 complex subunit beta-2 isoform 1

    See identical proteins and their annotated locations for NP_001265441.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF022152, BC143346, BQ777385
    Consensus CDS
    CCDS61737.1
    UniProtKB/Swiss-Prot
    Q13367
    Related
    ENSP00000440984.1, OTTHUMP00000237556, ENST00000535359.5, OTTHUMT00000397467
    Conserved Domains (4) summary
    pfam01602
    Location:34590
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:123267
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:823966
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    sd00044
    Location:111139
    HEAT; HEAT repeat [structural motif]
  3. NM_001348440.1NP_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
    F5GYB0
    Related
    ENSP00000440719.1, ENST00000542200.2
    Conserved Domains (1) summary
    cl26317
    Location:34122
    Adaptin_N; Adaptin N terminal region
  4. NM_001348441.1NP_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, DB180499, DQ092369
    UniProtKB/Swiss-Prot
    Q13367
  5. NM_004644.4NP_004635.2  AP-3 complex subunit beta-2 isoform 2

    See identical proteins and their annotated locations for NP_004635.2

    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
    Q13367
    Related
    ENSP00000479229.1, ENST00000620652.4
    Conserved Domains (4) summary
    pfam01602
    Location:34590
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:123267
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:804947
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    sd00044
    Location:111139
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    82659281..82709908 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022640.2XP_016878129.1  AP-3 complex subunit beta-2 isoform X1

  2. XM_024450082.1XP_024305850.1  AP-3 complex subunit beta-2 isoform X4

  3. XM_024450081.1XP_024305849.1  AP-3 complex subunit beta-2 isoform X3

    Conserved Domains (1) summary
    pfam14796
    Location:160
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
  4. XM_017022641.2XP_016878130.1  AP-3 complex subunit beta-2 isoform X2

RNA

  1. XR_001751404.2 RNA Sequence

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