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C2orf49 Gene

protein-coding   GIFtS: 43
GCID: GC02P105953

Chromosome 2 Open Reading Frame 49

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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
Chromosome 2 Open Reading Frame 491 2
ashwin1 2
asw2

External Ids:    HGNC: 287721   Entrez Gene: 790742   Ensembl: ENSG000001359747   UniProtKB: Q9BVC53   

Export aliases for C2orf49 gene to outside databases

Previous GC identifers: GC02P105320 GC02P099722


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C2orf49 Gene:
C2orf49 (chromosome 2 open reading frame 49) 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_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C2orf49 gene promoter:
         Sox5   AML1a   Nkx3-1 v1   Evi-1   E47   Nkx3-1 v2   Zic1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC2orf49 promoter sequence
   Search Chromatin IP Primers for C2orf49

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C2orf49


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

Entrez Gene cytogenetic band: 2q12.1   Ensembl cytogenetic band:  2q12.1   HGNC cytogenetic band: 2q12.2

C2orf49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf49 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P105953:  view genomic region     (about GC identifiers)

Start:
105,953,816 bp from pter      End:
105,965,668 bp from pter
Size:
11,853 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ASHWN_HUMAN, Q9BVC5 (See protein sequence)
Recommended Name: Ashwin  
Size: 232 amino acids; 25858 Da
Subunit: Component of the tRNA-splicing ligase complex
Secondary accessions: B3KXN3

Explore the universe of human proteins at neXtProt for C2orf49: NX_Q9BVC5

Explore proteomics data for C2orf49 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C2orf49 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001273466.1  NP_076998.1  

    ENSEMBL proteins: 
     ENSP00000258457   ENSP00000386361   ENSP00000400208  

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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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    1 InterPro protein domain:
     IPR024887 Ashwin

    Graphical View of Domain Structure for InterPro Entry Q9BVC5

    ProtoNet protein and cluster: Q9BVC5

    UniProtKB/Swiss-Prot: ASHWN_HUMAN, Q9BVC5
    Similarity: Belongs to the ashwin family


    Find genes that share domains with C2orf49           About GenesLikeMe


    (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, 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with C2orf49           About GenesLikeMe


    Animal Models:
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    hsa-mir-192-5p (MIRT026435)

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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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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0072669tRNA-splicing ligase complex IDA--

    Find genes that share ontologies with C2orf49           About GenesLikeMe


    (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 C2orf49
    Interactions:

        Search GeneGlobe Interaction Network for C2orf49

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for C2orf49 (ENSP000002584574) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDX1ENSP000002330844STRING: ENSP00000233084
    FAM98BENSP000003807344STRING: ENSP00000380734
    RTCBENSP000002160384STRING: ENSP00000216038
    C14orf166ENSP000002617004STRING: ENSP00000261700
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0048598embryonic morphogenesis IEA--

    Find genes that share ontologies with C2orf49           About GenesLikeMe



    (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 C2orf49 (ASHWN)



    (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 C2orf49 gene (2 alternative transcripts): 
    NM_001286537.1  NM_024093.2  

    Unigene Cluster for C2orf49:

    Chromosome 2 open reading frame 49
    Hs.549577  [show with all ESTs]
    Unigene Representative Sequence: AK127661
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000258457(uc002tcs.1) ENST00000410049(uc010fjd.1) ENST00000437250

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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat C2orf49
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    Additional mRNA sequence: 

    AK127661.1 AK304268.1 AK307891.1 BC001310.1 

    6 DOTS entries:

    DT.438725  DT.412856  DT.100749708  DT.95330922  DT.65288264  DT.91915818 

    Selected AceView cDNA sequences (see all 111):

    BQ009849 BM264026 NM_024093 AA404999 AW769652 AI199752 AI123206 AI392851 
    AI276240 AA504635 AA252371 AI795943 H06736 AI554617 CB995425 BM712237 
    AA370829 AW779862 BU170451 AI080200 N21089 AL118799 BF513817 AW665308 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf49    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
    SP1:                                          
    SP2:                                          


    ECgene alternative splicing isoforms for C2orf49

    (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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    C2orf49 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGTGCAGG
    C2orf49 Expression
    About this image

    C2orf49 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C2orf49 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.549577
        Custom PCR Arrays for C2orf49
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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 C2orf49 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia AI5974791 , 5 expressed sequence AI5974791, 5 85.49(n)1
    85.34(a)1
      1 (22.27 cM)5
    984041  NM_133818.11  NP_598579.11 
     430987105 
    chicken
    (Gallus gallus)
    Aves C1H2ORF491 chromosome 1 open reading frame, human C2orf49 69.59(n)
    65.79(a)
      418725  NM_001030813.1  NP_001025984.1 
    lizard
    (Anolis carolinensis)
    Reptilia C2orf496
    chromosome 2 open reading frame 49
    56(a)
    1 ↔ 1
    3(108910176-108919134)
    African clawed frog
    (Xenopus laevis)
    Amphibia asw-A-prov2 ashwin 79.47(n)    AF281253.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkeyp-118h3.61 si:dkeyp-118h3.6 54.23(n)
    50.78(a)
      553393  NM_001143933.1  NP_001137405.1 


    ENSEMBL Gene Tree for C2orf49 (if available)
    TreeFam Gene Tree for C2orf49 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 C2orf49 (see all 169)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2007057771,2
    C--105954052(+) GGCGGG/CGGATG 2 /A /G mis11Minor allele frequency- C:0.00EU 895
    rs1428274981,2
    C,F--105954054(+) CGGGGG/AATGTG 2 /N /D mis12Minor allele frequency- A:0.00NA EU 5111
    rs557724821,2
    C,F--105954140(+) CTGGAG/ACAGGT 2 /E syn15Minor allele frequency- A:0.08NA EU 3211
    rs1904563121,2
    C--105954521(+) AACCGG/TCCATT 1 -- int10--------
    rs67047401,2
    C,F--105954598(+) tcacaA/Gcatct 1 -- int11Minor allele frequency- G:0.04WA 118
    rs1932260701,2
    --105954622(+) CCGGGA/GGGAGA 1 -- int10--------
    rs1498352861,2
    --105954634(+) TTCAGA/GGCTCC 1 -- int10--------
    rs7662481,2
    C,F,A,H--105954719(+) AAAGTG/AATGTT 1 -- int116Minor allele frequency- A:0.34NA EA WA CSA 654
    rs1838957191,2
    --105954778(+) ATTTTA/GTTGTT 1 -- int10--------
    rs1454785151,2
    C--105954798(+) GCTTT-/CCCC  
      TTAGTA
    CCCTA
    1 -- int10--------

    HapMap Linkage Disequilibrium report for C2orf49 (105953816 - 105965668 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for C2orf49: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing C2orf49
    DNA2.0 Custom Variant and Variant Library Synthesis for C2orf49

    (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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    (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 C2orf49 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with C2orf49)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    3. 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)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    7. Host cell interactome of HIV-1 Rev includes RNA helicases involved in multiple facets of virus production. (PubMed id 22174317)1 Naji S....Gerace L. (amp 2012)
    8. A catalogue of putative HIV-1 protease host cell substrates. (PubMed id 22944692)1 Impens F....Gevaert K. (Biol. Chem. 2012)
    9. HSPC117 is the essential subunit of a human tRNA splicing ligase complex. (PubMed id 21311021)2 Popow J....Martinez J. (Science 2011)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)

    (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: 79074 HGNC: 28772 AceView: MGC5509 Ensembl:ENSG00000135974 euGenes: HUgn79074
    ECgene: C2orf49 H-InvDB: C2orf49

    (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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    NameDescription
    PharmGKB entry for C2orf49 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 C2orf49 gene:
    Search GeneIP for patents involving C2orf49

    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, eBioscience, 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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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