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    AP3M2 adaptor related protein complex 3 subunit mu 2 [ Homo sapiens (human) ]

    Gene ID: 10947, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AP3M2provided by HGNC
    Official Full Name
    adaptor related protein complex 3 subunit mu 2provided by HGNC
    Primary source
    HGNC:HGNC:570
    See related
    Ensembl:ENSG00000070718 MIM:610469; AllianceGenome:HGNC:570
    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
    P47B; AP47B; CLA20
    Summary
    This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]
    Expression
    Broad expression in brain (RPKM 10.7), testis (RPKM 8.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AP3M2 in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42153063..42171183)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (42427379..42445504)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42010581..42028701)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene myosin light chain 9 pseudogene Neighboring gene uncharacterized LOC107986939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27298 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:41998279-41998506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19153 Neighboring gene Sharpr-MPRA regulatory region 3603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42029745-42030244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42036916-42037740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27302 Neighboring gene plasminogen activator, tissue type Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42044581-42045152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42045153-42045723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42065584-42066102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42066103-42066621 Neighboring gene small nucleolar RNA U13

    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. Mutation screening of AP3M2 in Japanese epilepsy patients. Huang MC, et al. Brain Dev, 2007 Sep. PMID 17293072
    2. Isolation of 115 human chromosome 8-specific expressed-sequence tags by exon amplification. Koyama K, et al. Genomics, 1995 Mar 20. PMID 7601449
    3. Two rat homologs of clathrin-associated adaptor proteins. Pevsner J, et al. Gene, 1994 Sep 2. PMID 8076832
    4. Interaction of endocytic signals from the HIV-1 envelope glycoprotein complex with members of the adaptor medium chain family. Ohno H, et al. Virology, 1997 Nov 24. PMID 9400603
    5. Association analysis between schizophrenia and the AP-3 complex genes. Hashimoto R, et al. Neurosci Res, 2009 Sep. PMID 19481122

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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
    env Two tyrosine-based endocytic signals (residues 704-710 and 760-766) in the cytosolic tail (gp41) of the HIV-1 envelope glycoprotein (Env) complex interact with members of the adaptor medium chain family, AP-1 mu1, AP-2 mu2 and AP-3 mu3A PubMed
    Envelope transmembrane glycoprotein gp41 env Two tyrosine-based endocytic signals (residues 704-710 and 760-766) in the cytosolic tail (gp41) of the HIV-1 envelope glycoprotein (Env) complex interact with members of the adaptor medium chain family, AP-1 mu1, AP-2 mu2 and AP-3 mu3A 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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    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 endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    Component Evidence Code Pubs
    part_of AP-3 adaptor complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of AP-type membrane coat adaptor complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of clathrin adaptor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    AP-3 complex subunit mu-2
    Names
    HA1 47 kDa subunit homolog 2
    HA1 47kDA subunit homolog 2
    adapter-related protein complex 3 mu-2 subunit
    adapter-related protein complex 3 subunit mu-2
    adaptor related protein complex 3 mu 2 subunit
    clathrin assembly protein assembly protein complex 1 medium chain homolog 2
    clathrin assembly protein assembly protein complex 3 mu-2 medium chain
    clathrin coat assembly protein AP47 homolog 2
    clathrin coat-associated protein AP47 homolog 2
    clathrin-associated protein AP47 homolog 2
    epididymis secretory sperm binding protein
    golgi adaptor AP-1 47 kDA protein homolog 2
    mu3B-adaptin

    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.

    mRNA and Protein(s)

    1. NM_001134296.2 → NP_001127768.1  AP-3 complex subunit mu-2

      See identical proteins and their annotated locations for NP_001127768.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA854640, AC103724, BI461390, BX648354
      Consensus CDS
      CCDS6125.1
      UniProtKB/Swiss-Prot
      B2RCR0, D3DSY2, P53677, Q7Z472
      UniProtKB/TrEMBL
      A0A384NYL6
      Related
      ENSP00000428787.1, ENST00000518421.5
      Conserved Domains (2) summary
      cd09261
      Location:165 → 418
      AP-3_Mu3B_Cterm; C-terminal domain of medium Mu3B subunit in neuron-specific adaptor protein (AP) complex AP-3
      cd14837
      Location:3 → 141
      AP3_Mu_N; AP-3 complex subunit mu N-terminal domain

    2. NM_006803.4 → NP_006794.1  AP-3 complex subunit mu-2

      See identical proteins and their annotated locations for NP_006794.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA854640, AC103724, BC056398, BI461390
      Consensus CDS
      CCDS6125.1
      UniProtKB/Swiss-Prot
      B2RCR0, D3DSY2, P53677, Q7Z472
      UniProtKB/TrEMBL
      A0A384NYL6
      Related
      ENSP00000380132.3, ENST00000396926.8
      Conserved Domains (2) summary
      cd09261
      Location:165 → 418
      AP-3_Mu3B_Cterm; C-terminal domain of medium Mu3B subunit in neuron-specific adaptor protein (AP) complex AP-3
      cd14837
      Location:3 → 141
      AP3_Mu_N; AP-3 complex subunit mu N-terminal domain

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      42153063..42171183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421275.1 → XP_047277231.1  AP-3 complex subunit mu-2 isoform X1

      Related
      ENSP00000430616.1, ENST00000521280.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      42427379..42445504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359613.1 → XP_054215588.1  AP-3 complex subunit mu-2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P53677.1 GenPept UniProtKB/Swiss-Prot:P53677

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