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

C7orf49 Gene

protein-coding   GIFtS: 41
GCID: GC07M134777

Chromosome 7 Open Reading Frame 49

  See related diseases
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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 7 Open Reading Frame 491 2
Modulator Of Retrovirus Infection1
MRI2
Modulator Of Retrovirus Infection Homolog2

External Ids:    HGNC: 224321   Entrez Gene: 789962   Ensembl: ENSG000001227837   UniProtKB: Q9BWK53   
ORGUL members:         
NONCODE14:n406654 n406655 n341328      

Export aliases for C7orf49 gene to outside databases

Previous GC identifers: GC07M134501 GC07M129153


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

GeneCards Summary for C7orf49 Gene: 
C7orf49 (chromosome 7 open reading frame 49) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with C7orf49 include liver lymphoma, and cerebellar disease.

UniProtKB/Swiss-Prot: MRI_HUMAN, Q9BWK5
Function: May act as a regulator of proteasome (By similarity)




(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_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C7orf49 gene promoter:
         GR   NF-1/L   NF-1   AML1a   p53   Pax-2   Pax-2a   LUN-1   c-Myb   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C7orf49 promoter sequence
   Search SABiosciences Chromatin IP Primers for C7orf49

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C7orf49


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

Entrez Gene cytogenetic band: 7q33   Ensembl cytogenetic band:  7q33   HGNC cytogenetic band: 7q33

C7orf49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7orf49 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M134777:  view genomic region     (about GC identifiers)

Start:
134,777,115 bp from pter      End:
134,855,547 bp from pter
Size:
78,433 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 134,194,890-134,199,890     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for C7orf49

(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: MRI_HUMAN, Q9BWK5 (See protein sequence)
Recommended Name: Modulator of retrovirus infection homolog  
Size: 157 amino acids; 16829 Da
Subcellular location: Cytoplasm (By similarity)
Sequence caution: Sequence=AAH00168.1; Type=Erroneous initiation;
Secondary accessions: Q6NWZ4 Q6ZNR5
Alternative splicing: 3 isoforms:  Q9BWK5-1   Q9BWK5-2   Q9BWK5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C7orf49: NX_Q9BWK5

Explore proteomics data for C7orf49 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BWK5

  • C7orf49 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C7orf49 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001230678.1  NP_001230680.1  NP_001230681.1  NP_001230682.1  NP_001230683.1  NP_001230684.1  NP_076938.2  

    ENSEMBL proteins: 
     ENSP00000400024   ENSP00000376823   ENSP00000389941   ENSP00000473365  

    Human Recombinant Protein Products for C7orf49: 
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    Novus Biologicals C7orf49 Protein
    Novus Biologicals C7orf49 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    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:0005737cytoplasm IEA--

    C7orf49 for ontologies           About GeneDecksing



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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


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

    ProtoNet protein and cluster: Q9BWK5


    (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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MRI_HUMAN, Q9BWK5
    Function: May act as a regulator of proteasome (By similarity)

    Phenotypes:
         1 GenomeRNAi human phenotype for C7orf49:

     Cell cycle / mitosis defect 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C7orf49 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C7orf49

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C7orf49 
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    miRNA
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    hsa-miR-218-1* hsa-miR-223* hsa-miR-4308
    SwitchGear 3'UTR luciferase reporter plasmidC7orf49 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf49


    (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 C7orf49

    (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 C7orf49 (MRI)

    Search CenterWatch for drugs/clinical trials and news about C7orf49 / MRI

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 C7orf49 gene (7 alternative transcripts): 
    NM_001243749.1  NM_001243751.1  NM_001243752.1  NM_001243753.1  NM_001243754.1  NM_001243755.1  NM_024033.3  

    Unigene Cluster for C7orf49:

    Chromosome 7 open reading frame 49
    Hs.744954  [show with all ESTs]
    Unigene Representative Sequence: NM_001243749
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000459937(uc003vsg.3 uc003vsh.3) ENST00000464070 ENST00000424142(uc022alz.1 uc022amb.1 uc003vsk.3)
    ENST00000393114(uc022ama.1) ENST00000430372(uc003vsm.3 uc003vso.3 uc003vsl.3)
    ENST00000481410 ENST00000483029 ENST00000472428 ENST00000477820 ENST00000488161
    ENST00000487774 ENST00000486115
    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate C7orf49:
    hsa-miR-218-1* hsa-miR-223* hsa-miR-4308
    SwitchGear 3'UTR luciferase reporter plasmidC7orf49 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C7orf49
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C7orf49
    Clone
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    GenScript: all cDNA clones in your preferred vector: C7orf49 (NM_024033)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C7orf49
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C7orf49
    Sirion Biotech Customized lentivirus for stable overexpression of C7orf49 
                         Customized lentivirus expression plasmids for stable overexpression of C7orf49 
    Primer
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    OriGene qPCR primer pairs and template standards for C7orf49
    OriGene qSTAR qPCR primer pairs in human, mouse for C7orf49
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C7orf49
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C7orf49
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C7orf49

    Additional mRNA sequence: 

    AK026103.1 BC000168.2 BC067350.1 

    22 DOTS entries:

    DT.95208627  DT.100029815  DT.107104  DT.97854645  DT.100821173  DT.446506  DT.97802988  DT.97810909 
    DT.100821163  DT.100799308  DT.121060841  DT.92005487  DT.92415145  DT.95149953  DT.95158236  DT.100837226 
    DT.121060558  DT.121060871  DT.100821157  DT.121060787  DT.409242  DT.444226 

    24/285 AceView cDNA sequences (see all 285):

    BM126906 BQ430486 BQ026608 BP342152 CR596076 AI655857 AW515167 BC010361 
    AA906037 AK130795 AA809505 BE383689 BM789844 BQ949282 AI359583 AA954030 
    AA969038 CK906338 BU539869 BM727569 BQ000683 BQ423284 BQ216753 CK906339 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for C7orf49 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for C7orf49

    (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

    C7orf49 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCTGCCTC
    C7orf49 Expression
    About this image


    See C7orf49 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C7orf49

    SOURCE GeneReport for Unigene cluster: Hs.744954
        SABiosciences Custom PCR Arrays for C7orf49
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf49

    (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 human and mouse.

    Orthologs for C7orf49 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 3110062M04Rik1 , 5 RIKEN cDNA 3110062M04 gene1, 5 75.6(n)1
    67.97(a)1
      6 (15.18 cM)5
    784121  NM_001135611.11  NP_001129083.11 
     348717715 


    ENSEMBL Gene Tree for C7orf49 (if available)
    TreeFam Gene Tree for C7orf49 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C7orf49 gene
    1 SIMAP similar gene for C7orf49 using alignment to 1 protein entry:     C9JKC7_HUMAN:
    MRI

    C7orf49 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) 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

    10/188 SNPs in C7orf49 are shown (see all 188)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs102373821,2
    C,H--134851523(+) TGCTCC/GCAGAA 10 A G mis1 ut314Minor allele frequency- G:0.00NS EA 416
    rs1462894821,2
    C,F--134851540(+) TGAGGA/C/TGACAC 17 S syn1 ut312NA EU 5873
    rs1395666111,2
    C,F--134851541(+) GAGGCG/AACACG 10 /S /L mis1 ut312Minor allele frequency- A:0.00NA EU 5873
    rs1996722251,2
    C--134851546(+) GACACA/GGAGCA 10 S syn1 ut310--------
    rs1512304141,2
    C,F--134851604(+) CGCAGG/ACCTTT 10 /A /V mis1 ut311Minor allele frequency- A:0.00NA 4552
    rs1832483721,2
    C--134851620(+) TTTGCA/GGCTCT 10 R C mis1 ut310--------
    rs2009628601,2
    --134851635(+) AGTACA/GGGAAA 7 -- int10--------
    rs1879604081,2
    C--134851636(+) GTACGA/GGAAAA 7 -- int10--------
    rs1999089621,2
    C--134851643(+) AAAACA/GCAGGC 7 -- int10--------
    rs117633681,2
    C,H--134851671(+) TTTCCC/TTAACA 7 -- int14Minor allele frequency- T:0.00NS EA 420

    HapMap Linkage Disequilibrium report for C7orf49 (134777115 - 134855547 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C7orf49:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv527014CNV Gain19592680

    SABiosciences Cancer Mutation 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.)
    About This Section
    3 diseases for C7orf49:    About MalaCards
    liver lymphoma    cerebellar disease    post-traumatic stress disorder

    1 disease from the University of Copenhagen DISEASES database for C7orf49:
    post-traumatic stress disorder

    C7orf49 for disorders           About GeneDecksing


    Export disorders for C7orf49 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)
    About This Section

    PubMed articles for C7orf49 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C7orf49)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation, characterization, and genetic complementation of a cellular mutant resistant to retroviral infection. (PubMed id 17043244)1, 3 Agarwal S....Somia N.V. (2006)
    2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    3. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (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: 78996 HGNC: 22432 AceView: MGC5242 Ensembl:ENSG00000122783 euGenes: HUgn78996
    ECgene: C7orf49 H-InvDB: C7orf49

    (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 C7orf49 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 C7orf49 gene:
    Search GeneIP for patents involving C7orf49

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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