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

Gene ID: 10947, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42153063..42171183)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (42427379..42445504)
105.20220307 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
  • 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 (27) 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

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 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 presynapse 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_2023_10

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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