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

C9orf69 Gene

protein-coding   GIFtS: 33
GCID: GC09M139006

Chromosome 9 Open Reading Frame 69

Microbiology & Infectious Diseases Congress
  Search for C9orf69
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 9 Open Reading Frame 691 2
Herpes Virus UL25-Binding Protein2 3
bA83N9.12
Protein C9orf692

External Ids:    HGNC: 310091   Entrez Gene: 901202   Ensembl: ENSG000002382277   UniProtKB: H0YL143   
ORGUL members:         
NONCODE14:n377882 n378808 n378812 n377976      

Export aliases for C9orf69 gene to outside databases

Previous GC identifers: GC09U900585 GC09M138147 GC09M108469


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

GeneCards Summary for C9orf69 Gene: 
C9orf69 (chromosome 9 open reading frame 69) is a protein-coding gene, and is affiliated with the lncRNA class. GO annotations related to this gene include protein binding and GTP binding.

UniProtKB/Swiss-Prot: CI069_HUMAN, H0YL14
Function: Plays a role in cell proliferation by promoting progression into S phase. Promotes human herpesvirus 1
(HHV-1) proliferation




(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_000009.11  NT_019501.13  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C9orf69 gene promoter:
         C/EBPbeta   Olf-1   C/EBPalpha   GATA-1   CREB   E2F   E2F-1   Zic1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C9orf69

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf69


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

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

C9orf69 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf69 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M139006:  view genomic region     (about GC identifiers)

Start:
139,006,427 bp from pter      End:
139,010,731 bp from pter
Size:
4,305 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for C9orf69

(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: CI069_HUMAN, H0YL14 (See protein sequence)
Recommended Name: Protein C9orf69  
Size: 139 amino acids; 16083 Da
Subunit: Interacts with HHV-1 protein UL25; this interaction occurs in the course of a HHV-1 infection
Subcellular location: Membrane; Multi-pass membrane protein (Potential). Nucleus. Cytoplasm. Note=Upon HHV-1
infection, accumulates arround the nuclear membrane and translocates into the nucleus

Explore the universe of human proteins at neXtProt for C9orf69: NX_H0YL14

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_H0YL14

  • C9orf69 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins (2 alternative transcripts): 
    NP_001243455.1  NP_690046.3  

    ENSEMBL proteins: 
     ENSP00000453019   ENSP00000457272   ENSP00000455849   ENSP00000458020   ENSP00000452750  

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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0016021integral to membrane IEA--

    C9orf69 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
    1 InterPro protein domain:
     IPR000038 Cell_div_GTP-bd

    Graphical View of Domain Structure for InterPro Entry H0YL14

    ProtoNet protein and cluster: H0YL14


    C9orf69 for domains           About GeneDecksing


    (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: CI069_HUMAN, H0YL14
    Function: Plays a role in cell proliferation by promoting progression into S phase. Promotes human herpesvirus 1
    (HHV-1) proliferation
    Induction: Up-regulated upon HHV-1 infection

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005525GTP binding IEA--
         
    C9orf69 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 C9orf69

    1 Interacting protein for C9orf69 (H0YL141) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UL25D3YP881EBI-6399705,EBI-6449813
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007049cell cycle IEA--
    GO:0008284positive regulation of cell proliferation IDA--
    GO:0019048modulation by virus of host morphology or physiology IEA--
    GO:0048524positive regulation of viral process IDA--

    C9orf69 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 C9orf69 (CI069)

    Search CenterWatch for drugs/clinical trials and news about C9orf69 / CI069

    (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 C9orf69 gene (2 alternative transcripts): 
    NM_001256526.1  NM_152833.2  

    Unigene Cluster for C9orf69:

    Chromosome 9 open reading frame 69
    Hs.287411  [show with all ESTs]
    Unigene Representative Sequence: NM_152833
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000418388 ENST00000557985 ENST00000447934 ENST00000448040 ENST00000561457(uc004cgx.4 uc004cgy.2)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    hsa-miR-15a hsa-miR-29a hsa-miR-301a hsa-miR-449a hsa-miR-1184 hsa-miR-424 hsa-miR-155 hsa-miR-130b
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    Additional mRNA sequence: 

    AK023162.1 AK091349.1 BC009229.2 BC013282.2 BC014304.2 BC021231.2 BC064970.1 BC084549.1 
    BC092490.1 BC111053.1 

    9 DOTS entries:

    DT.455461  DT.91695587  DT.95296432  DT.121156352  DT.92029530  DT.100729122  DT.100777859  DT.100777860 
    DT.121156359 

    GeneLoc Exon Structure


    (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

    C9orf69 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCCACCTGC
    C9orf69 Expression
    About this image


    Genevestigator expression for C9orf69

    SOURCE GeneReport for Unigene cluster: Hs.287411
        SABiosciences Custom PCR Arrays for C9orf69
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf69

    (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 C9orf69 gene from 3/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C330006A16Rik1 , 5 RIKEN cDNA C330006A16 gene1, 5 89.45(n)1
    95.68(a)1
      2 (18.35 cM)5
    1092991  NM_001256521.11  NP_001243450.11 
     261368145 
    chicken
    (Gallus gallus)
    Aves LOC1008591011 uncharacterized LOC100859101 76.02(n)
    83.45(a)
      100859101  XM_003642295.1  XP_003642343.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003323311 uncharacterized LOC100332331 75.06(n)
    69.78(a)
      100332331  XM_002667432.2  XP_002667478.1 


    ENSEMBL Gene Tree for C9orf69 (if available)
    TreeFam Gene Tree for C9orf69 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C9orf69 gene

    C9orf69 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C9orf69
    PGOHUM00000262479


    (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

    10/148 SNPs in C9orf69 are shown (see all 148)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs11648971,2
    C--108475195(+) TCCCAC/TGTGGC 1 -- us2k112Minor allele frequency- T:0.00NA WA CSA EA 374
    rs1851399881,2
    --108475196(+) CCCATA/GTGGCT 1 -- us2k10--------
    rs1509522051,2
    --108475215(+) GACGCC/TGGCAC 1 -- us2k10--------
    rs1130740831,2
    F--139005995(+) CCGGGC/TGTGGT 2 -- int1 ds50011Minor allele frequency- T:0.50CSA 2
    rs101217971,2
    C--139006001(+) gtggtC/Ggtggg 2 -- int1 ds50010--------
    rs1869443661,2
    --139006042(+) AGACAA/CAAGAA 2 -- int1 ds50010--------
    rs1463753611,2
    --139006110(+) AGCCCA/GGCTGA 2 -- int1 ds50010--------
    rs1925065451,2
    --139006171(+) GTCAGC/TCGAAT 2 -- int1 ds50010--------
    rs1849235421,2
    --139006193(+) CGGCCA/TGCACA 2 -- int1 ds50010--------
    rs1898287871,2
    --139006279(+) AAGGAC/GAACCC 2 -- int1 ds50010--------

    HapMap Linkage Disequilibrium report for C9orf69 (139006427 - 139010731 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for C9orf69 (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509332CNV Insertion20534489
    nsv6762CNV Insertion18451855
    nsv894320CNV Loss21882294
    dgv8380n71CNV Loss21882294
    dgv8379n71CNV Loss21882294
    nsv894322CNV Loss21882294
    dgv8382n71CNV Loss21882294
    nsv894294CNV Loss21882294
    dgv8381n71CNV Loss21882294
    nsv831757CNV Loss17160897

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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

    C9orf69 for disorders           About MalaCards

    C9orf69 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C9orf69

    Export disorders for C9orf69 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 C9orf69 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C9orf69)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Host cell protein C9orf9 promotes viral proliferation via interaction with HSV-1 UL25 protein. (PubMed id 21667337)1, 2, 3 Zhang Y....Li Q.H. (2011)
    2. A genome-wide association study identifies a novel ma jor locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (2010)
    3. 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)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    7. 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)

    (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: 90120 HGNC: 31009 Ensembl:ENSG00000238227 euGenes: HUgn90120 ECgene: C9orf69
    H-InvDB: C9orf69

    (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 C9orf69 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 C9orf69 gene:
    Search GeneIP for patents involving C9orf69

    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)
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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)
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