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

    Gene ID: 100526783, updated on 27-Aug-2024

    Summary

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    Official Symbol
    ARPIN-AP3S2provided by HGNC
    Official Full Name
    ARPIN-AP3S2 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:38824
    See related
    Ensembl:ENSG00000250021 AllianceGenome:HGNC:38824
    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
    all
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    Genomic context

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    Location:
    15q26.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89830599..89912952, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87586470..87668969, complement)
    105.20220307 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 H3K4me1 hESC enhancer GRCh37_chr15:90327618-90328280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90335518-90336018 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:90347169-90348368 Neighboring gene ANPEP proximal promoter Neighboring gene FOXA motif-containing MPRA enhancer 170 Neighboring gene alanyl aminopeptidase, membrane Neighboring gene ANPEP distal promoter Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90365008-90365508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90365509-90366009 Neighboring gene uncharacterized LOC124903551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90367927-90368600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90370583-90371474 Neighboring gene uncharacterized LOC124903552 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:90380077-90381276 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:90391438-90392637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10057 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 H3K4me1 hESC enhancer GRCh37_chr15:90435515-90436264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10058 Neighboring gene RNA, U6 small nuclear 1111, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90437761-90438508 Neighboring gene microRNA 5009 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:90452345-90452529 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 OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:90525469-90526190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6807 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:90544586-90544754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:90545369-90546137 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90546138-90546905 Neighboring gene zinc finger protein 710 Neighboring gene microRNA 3174

    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. Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Kooner JS, et al. Nat Genet, 2011 Aug 28. PMID 21874001, Free PMC Article
    2. Genome-wide association study identifies three novel loci for type 2 diabetes. Hara K, et al. Hum Mol Genet, 2014 Jan 1. PMID 23945395
    3. Web-based, participant-driven studies yield novel genetic associations for common traits. Eriksson N, et al. PLoS Genet, 2010 Jun 24. PMID 20585627, Free PMC Article
    4. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, et al. Nat Genet, 2014 Mar. PMID 24509480, Free PMC Article
    5. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article

    See all (6) 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

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20488

    General protein information

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    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_001199058.2 → NP_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:226 → 349
      APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
      pfam10574
      Location:1 → 224
      UPF0552; uncharacterized protein family UPF0552

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      89830599..89912952 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      87586470..87668969 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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