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C15orf38-AP3S2 Gene

protein-coding   GIFtS: 20
GCID: GC15M090378

C15orf38-AP3S2 Readthrough

  Search for C15orf38-AP3S2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
C15orf38-AP3S2 Readthrough1 2
C15orf38-AP3S2 Fusion Protein2

External Ids:    HGNC: 388241   Entrez Gene: 1005267832   Ensembl: ENSG000002500217   UniProtKB: H0YL854   UniProtKB: H0YMK04   

Export aliases for C15orf38-AP3S2 gene to outside databases

Previous GC identifer: GC15U901312


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for C15orf38-AP3S2 Gene:
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)

GeneCards Summary for C15orf38-AP3S2 Gene:
C15orf38-AP3S2 (C15orf38-AP3S2 readthrough) is a protein-coding gene. An important paralog of this gene is C15orf38.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for C15orf38-AP3S2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C15orf38-AP3S2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C15orf38-AP3S2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

C15orf38-AP3S2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C15orf38-AP3S2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M090378:  view genomic region     (about GC identifiers)

Start:
90,373,831 bp from pter      End:
90,456,222 bp from pter
Size:
82,392 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/TrEMBL: H0YL85 (See protein sequence)
Recommended Name: Protein C15orf38-AP3S2  
Size: 185 amino acids; 20448 Da
Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered
as preliminary data

UniProtKB/TrEMBL: H0YMK0 (See protein sequence)

Recommended Name: Protein C15orf38-AP3S2  
Size: 184 amino acids; 20721 Da
Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered
as preliminary data

Explore proteomics data for C15orf38-AP3S2 at MOPED


See C15orf38-AP3S2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001185987.1  
ENSEMBL proteins: 
 ENSP00000381377   ENSP00000453100   ENSP00000453637  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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5 InterPro protein domains:
 IPR000804 Clathrin_sm-chain_CS
 IPR022775 AP_mu_sigma_su
 IPR016635 AP_complex_ssu
 IPR011012 Longin-like_dom
 IPR018889 UPF0552

Graphical View of Domain Structure for InterPro Entry H0YL85
Graphical View of Domain Structure for InterPro Entry H0YMK0

ProtoNet protein and cluster: H0YL85


C15orf38-AP3S2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008565protein transporter activity ----
     
C15orf38-AP3S2 for ontologies           About GeneDecksing


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016020membrane ----
GO:0030117membrane coat ----

C15orf38-AP3S2 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C15orf38-AP3S2
Interactions:

    Search GeneGlobe Interaction Network for C15orf38-AP3S2

Gene Ontology (GO): 4 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006810transport ----
GO:0006886intracellular protein transport ----
GO:0015031protein transport ----
GO:0016192vesicle-mediated transport ----

C15orf38-AP3S2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C15orf38-AP3S2



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for C15orf38-AP3S2 gene: 
NM_001199058.1  

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000398333 ENST00000558648 ENST00000559629 ENST00000560224
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GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C15orf38-AP3S2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
C15orf38-AP3S2 Expression
About this image

C15orf38-AP3S2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C15orf38-AP3S2 Protein Expression
    Custom PCR Arrays for C15orf38-AP3S2
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for C15orf38-AP3S2 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 2610034B18Rik1 , 5 RIKEN cDNA 2610034B18 gene1, 5 84.37(n)1
88.39(a)1
  7 (45.27 cM)5
704201  NM_027420.41  NP_081696.11 
 799253615 
tropical clawed frog
(Xenopus tropicalis)
Amphibia c15orf381 chromosome 15 open reading frame 38 62.8(n)
64.73(a)
  448248  NM_001004898.1  NP_001004898.1 
zebrafish
(Danio rerio)
Actinopterygii zgc:1124321 zgc:112432 58.93(n)
58.48(a)
  550477  NM_001017780.1  NP_001017780.1 


ENSEMBL Gene Tree for C15orf38-AP3S2 (if available)
TreeFam Gene Tree for C15orf38-AP3S2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C15orf38-AP3S2 gene
C15orf381 2  
10 SIMAP similar genes for C15orf38-AP3S2 using alignment to 2 protein entries:     H0YL85_HUMAN (see all proteins):
C15orf38    ARPIN    AP3S2    AP3S1    AP4S1    AP1S1
AP1S2    DKFZp779P0659    AP2S1    AP1S3

C15orf38-AP3S2 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C15orf38-AP3S2 (see all 86)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs49322631,2
C,F,A--90439627(+) AGGCAC/TAAAAT 1 -- int19Minor allele frequency- T:0.22NA WA CSA EA 368
rs20438821,2
C,F,A,H--90439753(-) TTTCGT/CTTTCT 1 -- int1100Minor allele frequency- C:0.42NS EA NA PA EU CA WA CSA 6157
rs1416166211,2
--90439866(+) AAATCA/GTTGTT 1 -- int10--------
rs790148611,2
C,F--90439878(+) AAATAT/CGGCAA 1 -- int11Minor allele frequency- C:0.05WA 118
rs20438811,2
C,F,A,H--90439960(-) tctttT/CgtCCA 1 -- int120Minor allele frequency- C:0.48MN NS EA NA WA CSA 2524
rs1912242461,2
--90440016(+) TTAAGC/TTCACT 1 -- int10--------
rs1818686271,2
--90440107(+) ACCCAA/GTTCTC 1 -- int10--------
rs19105881,2
H--90440261(-) ctttaG/Agaaca 1 -- int14Minor allele frequency- A:0.00NS EA 420
rs19105871,2
C,F,A,H--90440487(-) ctcacT/Gcctca 1 -- int15Minor allele frequency- G:0.42NA CSA 128
rs19105861,2
C,F,A,H--90440489(-) TCCTCA/CCTCCT 1 -- int15Minor allele frequency- C:0.41NA CSA 128

HapMap Linkage Disequilibrium report for C15orf38-AP3S2 (90373831 - 90456222 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for C15orf38-AP3S2:    About this table    
Variant IDTypeSubtypePubMed ID
esv1678655CNV Deletion17803354
esv2667255CNV Deletion23128226
esv2750010CNV Deletion23290073
nsv1661CNV Insertion18451855

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for C15orf38-AP3S2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C15orf38-AP3S2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genome-wide association study identifies three novel loci for type 2 diabetes. (PubMed id 23945395)1 Hara K....Kadowaki T. (Hum. Mol. Genet. 2014)
  2. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
  3. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
  4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
  5. Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. (PubMed id 21874001)1 Kooner J.S....Chambers J.C. (Nat. Genet. 2011)
  6. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
  7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
  8. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
  9. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (PLoS ONE 2010)
  10. Web-based, participant-driven studies yield novel genetic associations for common traits. (PubMed id 20585627)1 Eriksson N....Mountain J. (PLoS Genet. 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 100526783 HGNC: 38824 Ensembl:ENSG00000250021 euGenes: HUgn100526783 ECgene: C15orf38-AP3S2
H-InvDB: C15orf38-AP3S2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for C15orf38-AP3S2 gene:
Search GeneIP for patents involving C15orf38-AP3S2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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