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

Gene ID: 100526783, updated on 2-Nov-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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See ARPIN-AP3S2 in Genome Data Viewer
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)
RS_2024_09 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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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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