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

C9orf152 Gene

protein-coding   GIFtS: 36
GCID: GC09M112952

chromosome 9 open reading frame 152

  Search for C9orf152
in our new
 Human Malady Compendium 
Biological research products
for C9orf152
    

(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 1521 2
BA470J20.21
Uncharacterized Protein C9orf1522

External Ids:    HGNC: 314551   Entrez Gene: 4015462   Ensembl: ENSG000001889597   UniProtKB: Q5JTZ53   

Export aliases for C9orf152 gene to outside databases

Previous GC identifers: GC09M108315 GC09M110041 GC09M112001 GC09M082563


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

  --

(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 C9orf152 gene promoter:
         STAT1   FOXD1   LUN-1   AP-4   HNF-3beta   C/EBPalpha   AREB6   POU2F1   POU2F1a   IRF-7A   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C9orf152

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf152


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

Entrez Gene cytogenetic band: 9q31.3   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q31.3

C9orf152 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf152 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M112952:  view genomic region     (about GC identifiers)

Start:
112,952,328 bp from pter      End:
112,970,469 bp from pter
Size:
18,142 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: CI152_HUMAN, Q5JTZ5 (See protein sequence)
Recommended Name: Uncharacterized protein C9orf152  
Size: 239 amino acids; 26314 Da
Sequence caution: Sequence=AAI10808.1; Type=Erroneous initiation;
Secondary accessions: A8MWT6

Explore the universe of human proteins at neXtProt for C9orf152: NX_Q5JTZ5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5JTZ5

  • C9orf152 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001013011.2  
    ENSEMBL proteins: 
     ENSP00000383456  

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

    ProtoNet protein and cluster: Q5JTZ5


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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, 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 C9orf152

    (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 C9orf152
    Search CenterWatch for drugs/clinical trials and news about C9orf152 / CI152 

    (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,
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    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 C9orf152 gene: 
    NM_001012993.2  

    Unigene Cluster for C9orf152:

    Chromosome 9 open reading frame 152
    Hs.125608  [show with all ESTs]
    Unigene Representative Sequence: NM_001012993
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000473442 ENST00000400613(uc011lwk.2)

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    Additional cDNA sequence: 

    AK290278.1 BC110807.1 BX648492.1 BX648620.1 

    1 DOTS entry:

    DT.304350 

    22 AceView cDNA sequences:

    AA977516 AI380443 BX117097 CD722791 AW294316 AI685770 CB130713 AA299543 
    BX648620 CK431151 AI240179 AA884643 AI538592 AW079380 H25135 BX648492 
    CD723516 AA359770 AI864320 BI824968 AI913755 AI972654 

    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

    C9orf152 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGAAGCTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See C9orf152 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C9orf152

    SOURCE GeneReport for Unigene cluster: Hs.125608
        SABiosciences Custom PCR Arrays for C9orf152
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    In Situ
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    (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 C9orf152 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 D630039A03Rik1 , 5 RIKEN cDNA D630039A03 gene1, 5 74.86(n)1
    63.36(a)1
      4 (31.87 cM)5
    2424841  NM_178727.21  NP_848842.11 
     579084835 
    chicken
    (Gallus gallus)
    Aves C9orf1526
    Uncharacterized protein
    24(a)
    1 ↔ 1
    2(6124968-6130123)
    lizard
    (Anolis carolinensis)
    Reptilia C9orf1526
    --
    29(a)
    1 ↔ 1
    6(3835712-3840650)


    ENSEMBL Gene Tree for C9orf152 (if available)
    TreeFam Gene Tree for C9orf152 (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, 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

    9 NCBI SNPs in C9orf152 are shown     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1919768291,2
    --112961356(+) TGGGAG/TAATCG 1 -- int10--------
    rs117889921,2
    H--112961489(+) tgtggG/Tggctc 1 -- int10--------
    rs49788871,2
    C,A,--112961510(+) TCCCAG/ACACTT 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1851021821,2
    --112961542(+) TCACCC/TGAGGT 1 -- int10--------
    rs106099931,2
    C--112972173(+) AAGAG-/AAGAG 
            
    GAGGA
    1 -- us2k11Minor allele frequency- AAGAG:0.00NA 2
    rs726071781,2
    C,F,--112972177(+) AAAGAG/AAAGAG 1 -- us2k15Minor allele frequency- A:0.50NA WA CSA 10
    rs719905731,2
    ----112972173(+) AAGAG-/AAGAG 
            
    AAGAG
    1 -- us2k10--------
    rs2001220041,2
    ----112972173(+) AAGAA-/AAGA  
      GAAGAG
    AAGAG
    1 -- us2k10--------
    rs101245021,2
    ----112961397(+) gctgaA/Gattgt 1 -- int10--------

    HapMap Linkage Disequilibrium report for C9orf152 (112952328 - 112970469 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for C9orf152
         1 CNV: 8630

    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
      --

    (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 C9orf152 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C9orf152)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    2. 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)
    3. The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts. (PubMed id 15851553)1 Ozyildirim A.M....Laurie G.W. (2005)
    4. 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: 401546 HGNC: 31455 AceView: C9orf152 Ensembl:ENSG00000188959 euGenes: HUgn401546
    ECgene: C9orf152 H-InvDB: C9orf152

    (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 C9orf152 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 C9orf152 gene:
    Search GeneIP for patents involving C9orf152

    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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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