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AP3S2 adaptor related protein complex 3 subunit sigma 2 [ Homo sapiens (human) ]

Gene ID: 10239, updated on 14-Jul-2019

Summary

Official Symbol
AP3S2provided by HGNC
Official Full Name
adaptor related protein complex 3 subunit sigma 2provided by HGNC
Primary source
HGNC:HGNC:571
See related
Ensembl:ENSG00000157823 MIM:602416
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AP3S3; sigma3b
Expression
Ubiquitous expression in kidney (RPKM 10.1), thyroid (RPKM 9.4) and 25 other tissues See more
Orthologs

Genomic context

See AP3S2 in Genome Data Viewer
Location:
15q26.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (89830599..89894385, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90373831..90437617, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene alanyl aminopeptidase, membrane Neighboring gene FOXA motif-containing MPRA enhancer 170 Neighboring gene uncharacterized LOC105370965 Neighboring gene ARPIN-AP3S2 readthrough Neighboring gene microRNA 5094 Neighboring gene arginine and serine rich coiled-coil 2 pseudogene Neighboring gene RNA, U6 small nuclear 1111, pseudogene Neighboring gene microRNA 5009 Neighboring gene RNA, U7 small nuclear 111 pseudogene Neighboring gene actin related protein 2/3 complex inhibitor Neighboring gene zinc finger and SCAN domain containing 5A pseudogene

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 Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel loci for type 2 diabetes.
NHGRI GWA Catalog
Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.
NHGRI GWA Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
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

  • 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

Readthrough ARPIN-AP3S2

Readthrough gene: ARPIN-AP3S2, Included gene: ARPIN

Homology

Clone Names

  • FLJ35955

Gene Ontology Provided by GOA

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
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
AP-3 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
AP-3 complex subunit sigma-2
Names
AP-3 complex subunit sigma-3B
adapter-related protein complex 3 subunit sigma-2
adaptor complex sigma3B
adaptor related protein complex 3 sigma 2 subunit
clathrin-associated/assembly/adaptor protein, small 4, 22-kD
sigma-3B-adaptin
sigma-adaptin 3b

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.

mRNA and Protein(s)

  1. NM_005829.5NP_005820.1  AP-3 complex subunit sigma-2

    See identical proteins and their annotated locations for NP_005820.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript but encodes the supported protein.
    Source sequence(s)
    AC018988, BC002785, BC010020, DA268327, DA464242, DA752479, X99459
    Consensus CDS
    CCDS10357.1
    UniProtKB/Swiss-Prot
    P59780
    UniProtKB/TrEMBL
    A0A024RC62
    Related
    ENSP00000338777.4, ENST00000336418.9
    Conserved Domains (1) summary
    cd14834
    Location:1146
    AP3_sigma; AP-3 complex subunit sigma

RNA

  1. NR_023361.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an additional exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC018988, AW402906, BX098014, DA337392, DB322370, DC340463, DR158459
  2. NR_037582.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC018988, BC010615, DA777624

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.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    89830599..89894385 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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