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

C2orf49 Gene

protein-coding   GIFtS: 40
GCID: GC02P105953

Chromosome 2 Open Reading Frame 49

  Search for C2orf49
at  

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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for C2orf49 Gene: 
C2orf49 (chromosome 2 open reading frame 49) is a protein-coding gene. GO annotations related to this gene include molecular_function.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022171.15  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for C2orf49

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BVC5

  • C2orf49 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C2orf49 Protein Expression
    REFSEQ proteins: NP_076998.1  
    ENSEMBL proteins: 
     ENSP00000258457   ENSP00000386361   ENSP00000400208  

    Human Recombinant Protein Products for C2orf49: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    C2orf49 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9BVC5

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


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    C2orf49 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    About this table

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

    C2orf49 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 C2orf49 (ASHWN)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C2orf49 gene: 
    NM_024093.1  

    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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    Inhib. RNA
    Products:
         
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      QIAGEN 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 

    24/111 AceView cDNA sequences (see all 111):

    AA252371 AI795943 BU170451 NM_024093 AI080200 BM264026 AI199752 AW665308 
    AI554617 BF513817 AL118799 AA885024 H06736 AI040194 AA582704 AW768824 
    AW779862 AV682843 N21089 AI392851 BC001310 AA504635 AI123206 BM013624 

    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™, 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

    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


    See C2orf49 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2orf49

    SOURCE GeneReport for Unigene cluster: Hs.549577
        SABiosciences Custom PCR Arrays for C2orf49
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf49

    (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 chordates.

    Orthologs for C2orf49 gene from 5/12 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 71.21(n)
    66.82(a)
      418725  NM_001030813.1  NP_001025984.1 
    lizard
    (Anolis carolinensis)
    Reptilia C2ORF496
    Uncharacterized protein
    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 53.67(n)
    48(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)
    About This Section
      --

    (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) 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

    10/169 SNPs in C2orf49 are shown (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: --
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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 C2orf49 gene, integrated from 9 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. (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. (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. (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. (2002)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    7. Host cell interactome of HIV-1 Rev includes RNA helica ses involved in multiple facets of virus production. (PubMed id 22174317)1 Naji S....Gerace L. (2012)
    8. A catalogue of putative HIV-1 protease host cell subst rates. (PubMed id 22944692)1 Impens F....Gevaert K. (2012)
    9. HSPC117 is the essential subunit of a human tRNA splicing ligase complex. (PubMed id 21311021)2 Popow J....Martinez J. (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. (2011)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79074 HGNC: 28772 AceView: MGC5509 Ensembl:ENSG00000135974 euGenes: HUgn79074
    ECgene: C2orf49 H-InvDB: C2orf49

    (According to HUGE)
    About This Section
      --

    (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 C2orf49 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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