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

C9orf142 Gene

protein-coding   GIFtS: 36
GCID: GC09P139886          (predicted)

Chromosome 9 Open Reading Frame 142

  Search for C9orf142
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 1421 2
Uncharacterized Protein C9orf1422

External Ids:    HGNC: 278491   Entrez Gene: 2862572   Ensembl: ENSG000001483627   UniProtKB: Q9BUH63   

Export aliases for C9orf142 gene to outside databases

Previous GC identifers: GC09P137163 GC09P139006 GC09P109345


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

GeneCards Summary for C9orf142 Gene: 
C9orf142 (chromosome 9 open reading frame 142) is a protein-coding gene.


(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_024000.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C9orf142 gene promoter:
         c-Fos   CREB   AP-1   deltaCREB   ATF-2   Sox9   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C9orf142

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf142


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

C9orf142 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf142 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P139886:  view genomic region     (about GC identifiers)

Start:
139,886,870 bp from pter      End:
139,888,436 bp from pter
Size:
1,567 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: CI142_HUMAN, Q9BUH6 (See protein sequence)
Recommended Name: Uncharacterized protein C9orf142  
Size: 204 amino acids; 21640 Da
Secondary accessions: Q8IY19
Alternative splicing: 2 isoforms:  Q9BUH6-1   Q9BUH6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C9orf142: NX_Q9BUH6

Explore proteomics data for C9orf142 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BUH6

  • C9orf142 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C9orf142 Protein Expression
    REFSEQ proteins: NP_899064.1  
    ENSEMBL proteins: 
     ENSP00000360682  

    Human Recombinant Protein Products for C9orf142: 
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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: Q9BUH6


    (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

    Animal Models:
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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 C9orf142

    (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 C9orf142 (CI142)

    Search CenterWatch for drugs/clinical trials and news about C9orf142 / CI142

    (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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    About This Section

    REFSEQ mRNAs for C9orf142 gene: 
    NM_183241.1  

    Unigene Cluster for C9orf142:

    Chromosome 9 open reading frame 142
    Hs.409582  [show with all ESTs]
    Unigene Representative Sequence: AI582287
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371620(uc004cki.3) ENST00000468484 ENST00000481187 ENST00000483807
    ENST00000488678 ENST00000493968 ENST00000467845 ENST00000492564 ENST00000498095
    ENST00000463765
    miRNA
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    Additional mRNA sequence: 

    BC002613.2 BC038191.1 

    12 DOTS entries:

    DT.95170136  DT.445729  DT.100817015  DT.92423265  DT.95339228  DT.100817013  DT.100817014  DT.100817017 
    DT.100833166  DT.100817018  DT.100817019  DT.121185942 

    24/108 AceView cDNA sequences (see all 108):

    BM969994 BQ005424 BC038191 BQ022707 NM_183241 CR625766 AW079630 BM682529 
    BU733566 AI582287 BC002613 BM985067 BF847855 CR604207 BQ649142 BQ648003 
    BM726095 AA404643 BU500547 BE794459 AL521886 BG476197 AI080189 BU553231 

    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

    C9orf142 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATCCGCTGT
    C9orf142 Expression
    About this image


    See C9orf142 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C9orf142

    SOURCE GeneReport for Unigene cluster: Hs.409582
        SABiosciences Custom PCR Arrays for C9orf142
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf142

    (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 C9orf142 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0292141 , 5 cDNA sequence BC0292141, 5 79.33(n)1
    76.5(a)1
      2 (17.27 cM)5
    2276221  NM_153557.11  NP_705785.11 
     254551415 
    lizard
    (Anolis carolinensis)
    Reptilia C9orf1426
    chromosome 9 open reading frame 142
    33(a)
    1 ↔ 1
    GL343888.1(91779-107187)
    zebrafish
    (Danio rerio)
    Actinopterygii C5H9orf1426
    chromosome 9 open reading frame 142
    30(a)
    1 ↔ 1
    5(26753320-26756227)


    ENSEMBL Gene Tree for C9orf142 (if available)
    TreeFam Gene Tree for C9orf142 (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

    10/91 SNPs in C9orf142 are shown (see all 91)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs782297601,2
    F--139884886(+) ATTGTG/ATAAGC 1 -- us2k11Minor allele frequency- A:0.08WA 118
    rs120045121,2
    C,F,H--139884891(+) gtaagC/Tgctga 1 -- us2k12Minor allele frequency- T:0.13NA WA 120
    rs1400411711,2
    C--139884955(+) CTCCTA/GGGGTG 1 -- us2k10--------
    rs1497661061,2
    --139884959(+) TGGGGC/TGATGG 1 -- us2k10--------
    rs1828025931,2
    --139885130(+) CTGCCA/GGCCGA 1 -- us2k10--------
    rs1451144211,2
    --139885398(+) AGAAGC/TGTGAA 1 -- us2k10--------
    rs108701561,2
    C,F,H--139885539(+) AAAGGG/ATGTGC 1 -- us2k1 trp313Minor allele frequency- A:0.21NA WA CSA EA 375
    rs1113459281,2
    C,F--139885682(+) ACTGGC/ACCTCC 1 -- us2k12Minor allele frequency- A:0.05CSA WA 119
    rs108701571,2
    C,F,H--139885762(+) GCCTCT/CGCCTG 1 -- us2k113Minor allele frequency- C:0.22NA WA CSA EA 375
    rs108701581,2
    C,F,A,H--139885820(+) TAGCAA/CCCGCT 1 -- us2k125Minor allele frequency- C:0.33NS EA NA WA CSA 2353

    HapMap Linkage Disequilibrium report for C9orf142 (139886870 - 139888436 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/25 variations for C9orf142 (see all 25):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422220CNV Deletion17116639
    nsv894513CNV Loss21882294
    nsv894483CNV Loss21882294
    dgv8416n71CNV Loss21882294
    dgv8428n71CNV Loss21882294
    nsv894521CNV Loss21882294
    nsv894503CNV Loss21882294
    nsv894546CNV Loss21882294
    dgv8423n71CNV Loss21882294
    nsv894469CNV Loss21882294

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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
      --

    (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 C9orf142 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with C9orf142)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    2. 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)
    3. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    6. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    7. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)2 Olsen J.V....Mann M. (2006)

    (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: 286257 HGNC: 27849 AceView: LOC286257 Ensembl:ENSG00000148362 euGenes: HUgn286257
    ECgene: C9orf142 H-InvDB: C9orf142

    (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 C9orf142 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 C9orf142 gene:
    Search GeneIP for patents involving C9orf142

    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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    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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