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AAR2 Gene

protein-coding   GIFtS: 44
GCID: GC20P034825

AAR2 Splicing Factor Homolog (S. Cerevisiae)

(Previous name: chromosome 20 open reading frame 4)
(Previous symbol: C20orf4)
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(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
AAR2 Splicing Factor Homolog (S. Cerevisiae)1 2
C20orf41 2 3
Chromosome 20 Open Reading Frame 41
Protein AAR2 Homolog2
AAR2 Splicing Factor Homolog3
TGPR585

External Ids:    HGNC: 158861   Entrez Gene: 259802   Ensembl: ENSG000001310437   OMIM: 6048495   UniProtKB: Q9Y3123   

Export aliases for AAR2 gene to outside databases


(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 AAR2 Gene:
This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing.
Alternately spliced transcript variants have been found for this gene. (provided by RefSeq, Dec 2012)

GeneCards Summary for AAR2 Gene:
AAR2 (AAR2 splicing factor homolog (S. cerevisiae)) is a protein-coding gene.




(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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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for AAR2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for AAR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AAR2


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

Entrez Gene cytogenetic band: 20pter-q12   Ensembl cytogenetic band:  20q11.23   HGNC cytogenetic band: 20q11.23

AAR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AAR2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P034825:  view genomic region     (about GC identifiers)

Start:
34,824,381 bp from pter      End:
34,858,840 bp from pter
Size:
34,460 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AAR2_HUMAN, Q9Y312 (See protein sequence)
Recommended Name: Protein AAR2 homolog  
Size: 384 amino acids; 43472 Da
Sequence caution: Sequence=AAF29578.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: E1P5S7 Q9H4F9 Q9P1P3 Q9UFK9

Explore the universe of human proteins at neXtProt for AAR2: NX_Q9Y312

Explore proteomics data for AAR2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys12, Lys44, Lys186
  • Modification sites at PhosphoSitePlus

  • See AAR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258803.1  NP_056326.2  

    ENSEMBL proteins: 
     ENSP00000380455   ENSP00000313674   ENSP00000363043  

    AAR2 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for AAR2 (4 products) 

     
    antibodies-online peptides for AAR2

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    antibodies-online antibodies for AAR2 (14 products) 

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for AAR2 
    antibodies-online kits for AAR2 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007946 AAR2

    Graphical View of Domain Structure for InterPro Entry Q9Y312

    ProtoNet protein and cluster: Q9Y312

    1 Blocks protein domain: IPB007946 AAR2

    UniProtKB/Swiss-Prot: AAR2_HUMAN, Q9Y312
    Similarity: Belongs to the AAR2 family


    Find genes that share domains with AAR2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         5 GenomeRNAi human phenotypes for AAR2:
     Abundance of large cells with   Increased G2M DNA content, inc  Increased number of mitotic ce  Synthetic lethal with Ras 
     Wnt reporter downregulated 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for AAR2

    miRNA
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    miRTarBase miRNAs that target AAR2:
    hsa-mir-423-5p (MIRT038050), hsa-mir-339-5p (MIRT042757)

    Block miRNA regulation of human, mouse, rat AAR2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate AAR2
    SwitchGear 3'UTR luciferase reporter plasmidAAR2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AAR2

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AAR2

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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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      --

    (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 AAR2
    Interactions:

        Search GeneGlobe Interaction Network for AAR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AAR2 (Q9Y3122, 3 ENSP000003136744) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GJA5P363822, 3, ENSP000002713484MINT-67788 I2D: score=5 STRING: ENSP00000271348
    EAPPQ56P033, ENSP000002504544I2D: score=4 STRING: ENSP00000250454
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ARF6P623303, ENSP000002983164I2D: score=1 STRING: ENSP00000298316
    VAC14Q08AM63I2D: score=5 
    About this table

    (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 AAR2



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AAR2 gene (2 alternative transcripts): 
    NM_001271874.1  NM_015511.4  

    Unigene Cluster for AAR2:

    AAR2 splicing factor homolog (S. cerevisiae)
    Hs.11314  [show with all ESTs]
    Unigene Representative Sequence: NM_015511
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397286 ENST00000320849(uc002xfc.2) ENST00000373932(uc002xfe.1)

    miRNA
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    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for AAR2
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    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat AAR2
      QuantiTect SYBR Green Assays in human, mouse, rat AAR2
      QuantiFast Probe-based Assays in human, mouse, rat AAR2

    Additional mRNA sequence: 

    AF113672.1 AF132957.1 AL117419.1 BC001751.1 BC019311.1 

    11 DOTS entries:

    DT.452524  DT.101977923  DT.95206209  DT.100820440  DT.100820447  DT.100820444  DT.427745  DT.95206208 
    DT.120821403  DT.91755708  DT.100025742 

    Selected AceView cDNA sequences (see all 251):

    AA040354 BE385397 BE394353 BI769017 BQ069430 BU627019 AI360105 BM052882 
    CR610727 BM463278 BI223387 AA830365 AA335016 BG746761 BG422851 C02597 
    BG821466 AI110781 H08683 BX349168 AA974149 AF113672 BE383184 CA313305 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AAR2    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b
    SP1:                    -     -                       -                           
    SP2:                                                                              
    SP3:        -     -     -     -                       -                           
    SP4:                                                                              
    SP5:                          -                                                   


    ECgene alternative splicing isoforms for AAR2

    (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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    AAR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AAR2 Expression
    About this image


    AAR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Somite (Muscoskeletal System)
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
    AAR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AAR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.11314
        Custom PCR Arrays for AAR2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAR2

    (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 eukaryotes.

    Orthologs for AAR2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aar21 , 5 RIKEN cDNA 0610011L14 gene5
    AAR2 splicing factor homolog (S. cerevisiae)1
    87.52(n)1
    91.1(a)1
      2 (77.54 cM)5
    682951  NM_026661.41  NP_080937.31 
     1565475845 
    chicken
    (Gallus gallus)
    Aves C20H20ORF41 chromosome 20 open reading frame, human C20orf4 70.54(n)
    68.07(a)
      419118  NM_001030844.1  NP_001026015.1 
    lizard
    (Anolis carolinensis)
    Reptilia AAR26
    AAR2 splicing factor homolog (S. cerevisiae)
    76(a)
    1 ↔ 1
    GL343365.1(96166-112923)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aar21 AAR2 splicing factor homolog (S. cerevisiae) 62.7(n)
    58.2(a)
      100127613  NM_001112968.2  NP_001106439.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.189102 Transcribed sequence with moderate similarity to protein more 76.07(n)    57082303 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG123201 CG12320 50.85(n)
    37.78(a)
      42189  NM_142442.1  NP_650699.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F10B5.21 F10B5.2 48.13(n)
    37.28(a)
      184284  NM_063307.4  NP_495708.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G665101 AT1G66510 43.04(n)
    32.42(a)
      842969  NM_105322.2  NP_564876.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g01323001 Os04g0132300 44.06(n)
    32.48(a)
      4335002  NM_001058630.1  NP_001052095.2 


    ENSEMBL Gene Tree for AAR2 (if available)
    TreeFam Gene Tree for AAR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AAR2 gene
    9 SIMAP similar genes for AAR2 using alignment to 2 protein entries:     AAR2_HUMAN (see all proteins):
    ATF1    PFKFB3    HC6    C21orf37    COQ5    MST132
    pp12301    C12orf76    TUBA1C

    Find genes that share paralogs with AAR2           About GenesLikeMe



    (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 AAR2 (see all 437)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2018539271,2
    C--34822468(+) TTTTG-/TCG   
       AATAA
    TCAAA
    2 -- us2k10--------
    rs774431021,2
    --34822482(+) CAAAGA/GTAAGT 2 -- us2k10--------
    rs739053091,2
    C,F--34822623(+) GTAGAC/TGCCAG 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1824715421,2
    --34822624(+) TAGACA/GCCAGG 2 -- us2k10--------
    rs739053111,2
    C--34823054(+) CTGCAA/GCCCAC 2 -- us2k12Minor allele frequency- G:0.05WA 120
    rs1868304041,2
    --34823078(+) TTGACC/TGAGAC 2 -- us2k10--------
    rs1912485041,2
    --34823274(+) AGTGCA/GAGGAT 2 -- us2k10--------
    rs1444139791,2
    C--34823293(+) CCCAAA/GTGGGC 2 -- us2k10--------
    rs1144220321,2
    F--34823301(+) GGCCGG/CGCACG 2 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1848741491,2
    --34823376(+) AGTTCA/GAAACC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for AAR2 (34824381 - 34858840 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for AAR2: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AAR2
    DNA2.0 Custom Variant and Variant Library Synthesis for AAR2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604849    OMIM disorders: --


    Find genes that share disorders with AAR2           About GenesLikeMe


    Export disorders for AAR2 gene to outside databases

    (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 AAR2 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with AAR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    4. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.-H.... Lin W.-C. (Genome Res. 2000)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. 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)
    8. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    9. 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)
    10. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)

    (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: 25980 HGNC: 15886 AceView: C20orf4 Ensembl:ENSG00000131043 euGenes: HUgn25980
    ECgene: AAR2 H-InvDB: AAR2

    (According to HUGE)
    About This Section

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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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    NameDescription
    PharmGKB entry for AAR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AAR2 gene:
    Search GeneIP for patents involving AAR2

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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