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

C9orf129 Gene

protein-coding   GIFtS: 33
GCID: GC09M096080          (predicted)

Chromosome 9 Open Reading Frame 129

  Search for C9orf129
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 9 Open Reading Frame 1291 2
bA165J3.32
Putative Uncharacterized Protein C9orf1292

External Ids:    HGNC: 311161   Entrez Gene: 4455772   Ensembl: ENSG000002043527   UniProtKB: Q5T0353   

Export aliases for C9orf129 gene to outside databases

Previous GC identifers: GC00U921013 GC09U900668 GC09M095121 GC09M065757


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

GeneCards Summary for C9orf129 Gene: 
C9orf129 (chromosome 9 open reading frame 129) is a protein-coding gene. An important paralog of this gene is FAM120C.


(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  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C9orf129 gene promoter:
         COUP-TF1   AML1a   COUP   HNF-4alpha2   Arnt   HNF-4alpha1   MEF-2A   COUP-TF   aMEF-2   Hlf   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C9orf129

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf129


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

Entrez Gene cytogenetic band: 9q22.31   Ensembl cytogenetic band:  9q22.31   HGNC cytogenetic band: 9q22.31

C9orf129 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf129 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M096080:  view genomic region     (about GC identifiers)

Start:
96,080,481 bp from pter      End:
96,108,696 bp from pter
Size:
28,216 bases      Orientation:
minus 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: CI129_HUMAN, Q5T035 (See protein sequence)
Recommended Name: Putative uncharacterized protein C9orf129  
Size: 196 amino acids; 20715 Da

Explore the universe of human proteins at neXtProt for C9orf129: NX_Q5T035

Explore proteomics data for C9orf129 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5T035

  • C9orf129 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C9orf129 Protein Expression
    REFSEQ proteins: NP_001092278.1  
    ENSEMBL proteins: 
     ENSP00000364568  

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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: Q5T035


    (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

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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 C9orf129

    (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 C9orf129 (CI129)

    Search CenterWatch for drugs/clinical trials and news about C9orf129 / CI129

    (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 C9orf129 gene: 
    NM_001098808.1  

    Unigene Cluster for C9orf129:

    Chromosome 9 open reading frame 129
    Hs.575636  [show with all ESTs]
    Unigene Representative Sequence: NM_001098808
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000375419(uc010mre.3)
    miRNA
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    2 DOTS entries:

    DT.100739040  DT.95353600 

    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

    C9orf129 expression in normal human tissues (normalized intensities)      C9orf129 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCAGCGCA
    C9orf129 Expression
    About this image


    C9orf129 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)

    See C9orf129 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.575636
        SABiosciences Custom PCR Arrays for C9orf129
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf129

    (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 chimp.

    Orthologs for C9orf129 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia C9H9orf1291 chromosome 9 open reading frame, human C9orf129 98.13(n)
    97.45(a)
      744851  XM_003312180.1  XP_003312228.1 


    ENSEMBL Gene Tree for C9orf129 (if available)
    TreeFam Gene Tree for C9orf129 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C9orf129 gene
    FAM120C2  FAM120A2  FAM120B2  
    1 SIMAP similar gene for C9orf129 using alignment to 1 protein entry:     CI129_HUMAN:
    FAM120A

    C9orf129 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

    10/636 SNPs in C9orf129 are shown (see all 636)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0616004
    ----see VAR_0616002 R H mis40--------
    rs1916180041,2
    --96083480(+) ATGTCC/TAACTG 1 -- int10--------
    rs1401658051,2
    --96083565(+) CCATTC/TACATC 1 -- int10--------
    rs1453642141,2
    --96083670(+) AGTGAC/TGCTGC 1 -- int10--------
    rs1145488441,2
    F--96083725(+) GACCTC/TGGAGT 1 -- int11Minor allele frequency- T:0.03WA 118
    rs610242981,2
    C--96083904(+) TTTTTT/-CTTCT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1826031871,2
    C--96084020(+) AAGTGA/GTTCTT 1 -- int10--------
    rs109927051,2
    --96084077(+) tcacaC/Tctggc 1 -- int10--------
    rs1880160051,2
    --96084143(+) CAAACC/TCCTGA 1 -- int10--------
    rs1922938861,2
    --96084160(+) GATCCA/GCCCGC 1 -- int10--------

    HapMap Linkage Disequilibrium report for C9orf129 (96080481 - 96108696 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for C9orf129:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv893582CNV Loss21882294
    dgv8262n71CNV Loss21882294
    nsv893580CNV Loss21882294
    nsv893576CNV Gain21882294
    esv7472OTHER Inversion19470904

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for C9orf129

    (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

    C9orf129 for disorders           About MalaCards

    C9orf129 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C9orf129
    Human Genome Epidemiology (HuGE) Navigator: C9orf129 (1 document)

    Export disorders for C9orf129 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 C9orf129 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C9orf129)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    2. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)4 Levy D....Mitchell G.F. (2007)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)

    (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: 445577 HGNC: 31116 Ensembl:ENSG00000204352 euGenes: HUgn445577 ECgene: C9orf129
    H-InvDB: C9orf129

    (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 C9orf129 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 C9orf129 gene:
    Search GeneIP for patents involving C9orf129

    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
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    About This Section

     
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     lentivirus expression plasmids for stable overexpression of C9orf129
     adenovirus for overexpression of C9orf129
     Search LSBio for Antibodies for C9orf129
    Customized transgenic rodents for:
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     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
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