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

C9orf78 Gene

protein-coding   GIFtS: 48
GCID: GC09M132590

chromosome 9 open reading frame 78

 Explore 7 diseases affiliated with
C9orf78 via our new
 Human Malady Compendium 
Biological research products
for C9orf78
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chromosome 9 Open Reading Frame 781 2
HCA591 2 3
HSPC2201 2
Hepatocellular Carcinoma-Associated Antigen 592 3
BA409K20.31
Uncharacterized Protein C9orf782

External Ids:    HGNC: 249321   Entrez Gene: 517592   Ensembl: ENSG000001368197   UniProtKB: Q9NZ633   

Export aliases for C9orf78 gene to outside databases

Previous GC identifers: GC09M127965 GC09M127946 GC09M129669 GC09M131629 GC09M102188


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

Gene Wiki entry for C9orf78


(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_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C9orf78 gene promoter:
         p53   Lmo2   AP-2gamma   E47   Arnt   Roaz   AREB6   MEF-2A   aMEF-2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC9orf78 promoter sequence
   Search SABiosciences Chromatin IP Primers for C9orf78

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf78


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

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.2

C9orf78 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf78 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M132590:  view genomic region     (about GC identifiers)

Start:
132,589,564 bp from pter      End:
132,598,142 bp from pter
Size:
8,579 bases      Orientation:
minus strand

(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: CI078_HUMAN, Q9NZ63 (See protein sequence)
Recommended Name: Uncharacterized protein C9orf78  
Size: 289 amino acids; 33688 Da
Secondary accessions: B3KPX8 Q8WVU6 Q9NT39

Explore the universe of human proteins at neXtProt for C9orf78: NX_Q9NZ63

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NZ63

  • C9orf78 Protein expression data from MOPED and PaxDb:    About this image 
    C9orf78 Protein Expression
    REFSEQ proteins: NP_057604.1  
    ENSEMBL proteins: 
     ENSP00000361524  

    Human Recombinant Protein Products for C9orf78: 
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    Uscn Proteins for C9orf78

    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:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    C9orf78 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for C9orf78


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

    C9orf78 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR010756 Hep_59

    Graphical View of Domain Structure for InterPro Entry Q9NZ63

    ProtoNet protein and cluster: Q9NZ63


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C9orf78 

    miRNA
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    miRTarBase miRNAs that target C9orf78:
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    SwitchGear 3'UTR luciferase reporter plasmidC9orf78 3' UTR sequence
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    Sirion Biotech Customized inducible overexpressing cell line services for C9orf78

    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf78


    (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 C9orf78

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

    5/8 Interacting proteins for C9orf78 (Q9NZ632, 3 ENSP000003615244) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAB1Q157502, 3MINT-8260020 I2D: score=2 
    MAPK11Q157592, 3, ENSP000003336854MINT-8260504 I2D: score=2 STRING: ENSP00000333685
    FCHSD2O948683, ENSP000003867224I2D: score=1 STRING: ENSP00000386722
    SUPT5HO002673I2D: score=2 
    TRAF6Q9Y4K33I2D: score=1 
    About this table

    (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 C9orf78
    Search CenterWatch for drugs/clinical trials and news about C9orf78 / CI078 

    (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, Sirion Biotech, 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 C9orf78 gene: 
    NM_016520.2  

    Unigene Cluster for C9orf78:

    Chromosome 9 open reading frame 78
    Hs.278429  [show with all ESTs]
    Unigene Representative Sequence: AK097577
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372447(uc004byo.3 uc004byp.3) ENST00000461349 ENST00000461762(uc004byq.1)
    ENST00000480023 ENST00000461539 ENST00000492991 ENST00000495934

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C9orf78
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate C9orf78:
    hsa-miR-607 hsa-miR-520d-5p hsa-miR-214 hsa-miR-548t hsa-miR-524-5p hsa-miR-761 hsa-miR-548n hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidC9orf78 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C9orf78 (see all 4)
    OriGene shRNA RFP: C9orf78
    OriGene siRNA: C9orf78
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C9orf78
    Sirion Biotech Custom design and validation of potent shRNA sequences against C9orf78 
    Clone
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    Additional cDNA sequence: 

    AF151054.1 AF218421.1 AK057004.1 AK096971.1 AK097577.1 AL137549.1 AY632862.1 BC007664.2 
    BC017570.1 BC037173.1 

    15 DOTS entries:

    DT.211137  DT.91736827  DT.100793221  DT.102829125  DT.99931222  DT.75103935  DT.121191309  DT.99930468 
    DT.100793222  DT.92461424  DT.100768186  DT.100793215  DT.91998860  DT.95233211  DT.101954476 

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

    AK096971 BG942838 AI685712 BM809560 AL547621 BX090077 CR606901 AI376077 
    BG575519 CD516422 BE049455 AA317976 AI863150 BM466383 CA771161 CA424433 
    AI812016 W69639 AI686336 CA867873 CA395609 BG104824 CR604621 BQ649162 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf78    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
    SP1:                          -                                                                           
    SP2:                          -     -     -     -     -                                                   
    SP3:                    -     -                                                                           
    SP4:                                                                                -                     
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for C9orf78

    (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

    C9orf78 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTTCTGCTT
    C9orf78 Expression
    About this image
    See C9orf78 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C9orf78

    SOURCE GeneReport for Unigene cluster: Hs.278429
        SABiosciences Custom PCR Arrays for C9orf78

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf78

    (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 C9orf78 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0056241 , 5 cDNA sequence BC0056241, 5 87.31(n)1
    95.85(a)1
      2 (21.77 cM)5
    2277071  NM_144885.21  NP_659134.11 
     309728335 
    chicken
    (Gallus gallus)
    Aves C17H9orf781 chromosome 17 open reading frame, human C9orf78 80.52(n)
    89.79(a)
      417189  XM_415471.3  XP_415471.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1036921 zgc:103692 71.24(n)
    78.52(a)
      449772  NM_001005945.1  NP_001005945.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG79741 CG7974 58.15(n)
    54.14(a)
      38207  NM_139386.3  NP_647643.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T23G11.46
    Protein T23G11.4
    28(a)
    1 ↔ 1
    I(7694321-7695229)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G023301 hypothetical protein 43.84(n)
    36.19(a)
      839367  NM_100114.4  NP_563649.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g03741001 hypothetical protein 44.61(n)
    31.6(a)
      4332947  NM_001056746.1  NP_001050211.1 


    ENSEMBL Gene Tree for C9orf78 (if available)
    TreeFam Gene Tree for C9orf78 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C9orf78 gene

    C9orf78 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for C9orf78
    PGOHUM00000245251 PGOHUM00000237843 PGOHUM00000250762


    (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

    10/165 NCBI SNPs in C9orf78 are shown (see all 165    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2006521841,2
    --132589162(+) TGGAG-/GAAAAAA 1 -- int10--------
    rs674286891,2
    C--132589163(+) GGAGG-/AAAAAAA 1 -- int11Minor allele frequency- AA:0.00NA 2
    rs1478374291,2
    --132589177(+) AATCTC/GCATTT 1 -- int10--------
    rs1892007451,2
    --132589235(+) ACACAA/GGTAGT 1 -- int10--------
    rs727552251,2
    C--132589462(+) TAAATA/GAGAAA 1 -- int10--------
    rs1911645851,2
    --132589563(+) AAACAA/TTAAGG 1 -- spd10--------
    rs81131,2
    C,F,A,H--132589606(-) TTCTTA/GTTACT 1 -- ut31 ese321Minor allele frequency- G:0.27MN NS EA NA CSA WA 2714
    rs87191,2
    C,F,O,A,H--132589633(-) TCATTA/TAAAAA 1 -- ut31 trp312Minor allele frequency- T:0.24MN NS EA NA CSA WA 968
    rs1469738631,2
    --132589733(+) CTGACC/GCCATC 1 -- ut310--------
    rs1384217671,2
    --132589912(+) CCCAAA/GTGGAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C9orf78 (132589564 - 132598142 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C9orf78: --

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    C9orf78 for disorders           About GeneDecksing

    7 diseases for C9orf78:    About MalaCards
    hepatocellular carcinoma    carcinoma    intrahepatic cholangiocarcinoma    cholangiocarcinoma
    medulloblastoma    pancreatic cancer    pancreatitis


    Export disorders for C9orf78 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 C9orf78 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with C9orf78)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Large scale identification of human hepatocellular carcinoma- associated antigens by autoantibodies. (PubMed id 12097419)1, 2, 3 Wang Y....Chen W.-F. (2002)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    3. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 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)1, 2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 3 Zhang Q.-H.... Chen Z. (2000)
    8. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
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    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: 51759 HGNC: 24932 AceView: C9orf78 Ensembl:ENSG00000136819 euGenes: HUgn51759
    ECgene: C9orf78 H-InvDB: C9orf78

    (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 C9orf78 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for C9orf78 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C9orf78 gene:
    Search GeneIP for patents involving C9orf78

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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