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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
  Search for AAR2
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for AAR2    

Aliases
for AAR2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
AAR2 Splicing Factor Homolog (S. Cerevisiae)1 2     Protein AAR2 Homolog2
C20orf41 2 3     AAR2 Splicing Factor Homolog3
BA234K24.21     TGPR585
Chromosome 20 Open Reading Frame 41     

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

Export aliases for AAR2 gene to outside databases


Summaries
for AAR2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for AAR2:
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)




Genomic Views
for AAR2 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AAR2
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for AAR2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y312

    • AAR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000380455   ENSP00000313674   ENSP00000363043  

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    Uscn Proteins for AAR2


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    Uscn ELISAs and CLIAs for AAR2

    Protein Domains /
    Families
    for AAR2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AAR2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007946 AAR2

    Graphical View of Domain Structure for InterPro Entry Q9Y312

    ProtoNet protein and cluster: Q9Y312

    1 Blocks protein family: IPB007946 AAR2

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


    Function
    for AAR2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
    Products:            		 OriGene 3'-UTR Clone: AAR2
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AAR2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate AAR2
    SwitchGear 3'UTR luciferase reporter plasmid: AAR2 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: AAR2
    OriGene siRNA: AAR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AAR2

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AAR2 

    Cell Line
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    Search LifeMap BioReagents cell lines for AAR2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAR2

    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 


    Pathways & Interactions
    for AAR2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AAR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/13 Interacting proteins for AAR2 (Q9Y3122, 3 ENSP000003136744) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    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

    Drugs & Compounds
    for AAR2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AAR2
    Search CenterWatch for drugs/clinical trials and news about AAR2 

    Transcripts
    for AAR2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AAR2
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    SwitchGear 3'UTR luciferase reporter plasmid: AAR2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AAR2 (see all 4)
    OriGene shRNA RFP: AAR2
    OriGene siRNA: AAR2
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AAR2 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AAR2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AAR2

    Additional cDNA sequence: 

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

    10 DOTS entries:

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

    24/251 AceView cDNA sequences (see all 251):

    AI110781 AA040354 BF794970 BX349168 AA653558 BI752243 BG422851 AI814926 
    BM472636 BI223387 BG746761 BE223089 BI769017 AI360105 BU186605 AA830365 
    AA313457 AA773764 BQ231614 BM052882 AL539134 BQ947820 CR594170 BE383184 

    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

    Expression
    for AAR2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section
    		 See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --


    AAR2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    SomiteThoracic Ventrolateral Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AAR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AAR2

    SOURCE GeneReport for Unigene cluster: Hs.11314
        SABiosciences Custom PCR Arrays for AAR2
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAR2

    Orthologs
    for AAR2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AAR2 gene from 8/26 species (see all 26)    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_001164818.11  NP_001158290.11 
     1565475845 
    chicken
    (Gallus gallus)    		 Aves AAR21 AAR2 splicing factor homolog (S. cerevisiae) 70.54(n)
    68.07(a)    		   419118  NM_001030844.1  NP_001026015.1 
    lizard
    (Anolis carolinensis)    		 Reptilia C20orf46
    		 --
    		 76(a)
    		 1 ↔ 1
    		 GL343365.1(100965-109401)
    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 49.45(n)
    34.53(a)    		   42189  NM_142442.1  NP_650699.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea F10B5.21 Protein F10B5.2 48.42(n)
    37.87(a)    		   184284  NM_063307.3  NP_495708.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G665101 A1 cistron-splicing factor AAR2 42.77(n)
    32.42(a)    		   842969  NM_105322.2  NP_564876.1 
    rice
    (Oryza sativa)    		 Liliopsida Os04g01323001 hypothetical protein 44.16(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
    for AAR2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for AAR2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/355 NCBI SNPs in AAR2 are shown (see all 355)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2018539271,2
    		--34822468(+) TTTTG-/TCG   
       AATAA    TCAAA     		1 -- us2k10--------
    rs774431021,2
    		--34822482(+) CAAAGA/GTAAGT 1 -- us2k10--------
    rs739053091,2
    		C,--34822623(+) GTAGAC/TGCCAG 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1824715421,2
    		--34822624(+) TAGACA/GCCAGG 1 -- us2k10--------
    rs739053111,2
    		C,--34823054(+) CTGCAA/GCCCAC 1 -- us2k12Minor allele frequency- G:0.05WA 120
    rs1868304041,2
    		--34823078(+) TTGACC/TGAGAC 1 -- us2k10--------
    rs1912485041,2
    		--34823274(+) AGTGCA/GAGGAT 1 -- us2k10--------
    rs1444139791,2
    		--34823293(+) CCCAAA/GTGGGC 1 -- us2k10--------
    rs1144220321,2
    		F,--34823301(+) GGCCGG/CGCACG 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1848741491,2
    		--34823376(+) AGTTCA/GAAACC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AAR2 (34824381 - 34858840 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AAR2: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for AAR2 gene

    (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.)
    About This Section
    AAR2 for disorders           About MalaCards

    AAR2 for disorders           About GeneDecksing

    OMIM gene information: 604849    OMIM disorders: --


    Export disorders for AAR2 gene to outside databases

    Publications
    for AAR2 gene

    (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)
    About This Section

    PubMed articles for AAR2 gene, integrated from 9 sources (see all 18):
    (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. (2004)
    2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (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. (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. (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. (2012)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    External Searches for AAR2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing AAR2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 25980 HGNC: 15886 AceView: C20orf4 Ensembl:ENSG00000131043 euGenes: HUgn25980
    ECgene: AAR2 H-InvDB: AAR2

    Other Databases showing AAR2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AAR2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AAR2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for AAR2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
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    In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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