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ARPIN-AP3S2 ARPIN-AP3S2 readthrough [ Homo sapiens (human) ]

Gene ID: 100526783, updated on 5-Jan-2022

Summary

Official Symbol
ARPIN-AP3S2provided by HGNC
Official Full Name
ARPIN-AP3S2 readthroughprovided by HGNC
Primary source
HGNC:HGNC:38824
See related
Ensembl:ENSG00000250021
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
ARPIN; C15orf38; C15orf38-AP3S2
Summary
This locus represents naturally occurring read-through transcription between the neighboring C15orf38 (chromosome 15 open reading frame 38) and AP3S2 (adaptor-related protein complex 3, sigma 2 subunit) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]
Expression
Ubiquitous expression in kidney (RPKM 10.5), brain (RPKM 9.9) and 25 other tissues See more
Orthologs
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Genomic context

See ARPIN-AP3S2 in Genome Data Viewer
Location:
15q26.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (89830599..89912952, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90373831..90456184, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene alanyl aminopeptidase, membrane Neighboring gene ANPEP distal promoter Neighboring gene uncharacterized LOC105370965 Neighboring gene adaptor related protein complex 3 subunit sigma 2 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 Neighboring gene zinc finger protein 710 Neighboring gene microRNA 3174

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

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel loci for type 2 diabetes.
EBI GWAS Catalog
Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.
EBI GWAS Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
EBI GWAS Catalog
Web-based, participant-driven studies yield novel genetic associations for common traits.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20488

General protein information

Preferred Names
uncharacterized protein LOC100526783
Names
Arp2/3 inhibition protein
C15orf38-AP3S2 readthrough

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_001199058.2NP_001185987.1  uncharacterized protein LOC100526783

    Status: VALIDATED

    Source sequence(s)
    AC018988, AC027176, AK000495
    UniProtKB/TrEMBL
    A0A0A6YYH1
    Related
    ENSP00000381377.3, ENST00000398333.7
    Conserved Domains (2) summary
    COG5030
    Location:226349
    APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
    pfam10574
    Location:1224
    UPF0552; uncharacterized protein family UPF0552

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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..89912952 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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