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C9orf152 Gene

protein-coding   GIFtS: 38
GCID: GC09M112952

Chromosome 9 Open Reading Frame 152

  Search for C9orf152
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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 1521 2
bA470J20.22
Uncharacterized Protein C9orf1522

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

Export aliases for C9orf152 gene to outside databases

Previous GC identifers: GC09M108315 GC09M110041 GC09M112001 GC09M082563


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C9orf152 Gene:
C9orf152 (chromosome 9 open reading frame 152) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NC_018920.2  NT_008470.20  
Regulatory elements:
   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 Chromatin IP Primers for C9orf152

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

Explore proteomics data for C9orf152 at MOPED


See C9orf152 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001013011.2  
ENSEMBL proteins: 
 ENSP00000383456  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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SwitchGear 3'UTR luciferase reporter plasmidC9orf152 3' UTR sequence
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular2
cytosol1
nucleus1

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C9orf152
Interactions:

    Search GeneGlobe Interaction Network for C9orf152

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C9orf152 (CI152)



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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)
miRNA
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SwitchGear 3'UTR luciferase reporter plasmidC9orf152 3' UTR sequence
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Additional mRNA sequence: 

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

1 DOTS entry:

DT.304350 

22 AceView cDNA sequences:

AW294316 AI685770 AI380443 AA977516 AA299543 BX117097 CD722791 CB130713 
CD723516 BX648492 AW079380 AI240179 AI538592 H25135 CK431151 BX648620 
AA884643 AI864320 BI824968 AA359770 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C9orf152 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAGAAGCTTC
C9orf152 Expression
About this image


C9orf152 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Blood (Hematopoietic System)
         Hematopoietic Stem Cells Hematopoietic Bone Marrow
 
 Ovary (Reproductive System)
C9orf152 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C9orf152 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.125608
    Custom PCR Arrays for C9orf152
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In Situ
Assay Products:
 

 
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for C9orf152 gene from Selected species (see all 7)    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
chromosome 9 open reading frame 152
26(a)
1 ↔ 1
2(6174629-6180337)
lizard
(Anolis carolinensis)
Reptilia C9orf1526
chromosome 9 open reading frame 152
29(a)
1 ↔ 1
6(3835712-3842167)


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)
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  --

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C9orf152 (see all 306)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1907445071,2
C--82563712(+) TACACA/GCCCAT 1 -- int10--------
rs1463942471,2
--82563774(+) GCAGAA/GGTTGC 1 -- int10--------
rs70209701,2
C,F,A,H--82563841(+) ctccaA/Gaaaca 1 -- int113Minor allele frequency- G:0.15NS EA NA CSA WA 1470
rs70210791,2
C,F,A,H--82563865(+) AACCTA/GTAGAA 1 -- int116Minor allele frequency- G:0.14NS EA NA CSA WA 1628
rs1166031501,2
C,F--82563916(+) AAAGGA/GCAAAT 1 -- int11Minor allele frequency- G:0.02WA 118
rs413015211,2
C,F--82563927(+) TTTTTT/CGAGAA 1 -- ut315Minor allele frequency- C:0.12NA WA EA 362
rs1385012651,2
--82563959(+) ATTTAA/GAAAAC 1 -- ut310--------
rs1820902451,2
--82564022(+) TGGATG/TTCTGG 1 -- ut310--------
rs773626981,2
C,F--82564178(+) GGAAAG/TGCACC 1 -- ut311Minor allele frequency- T:0.03WA 118
rs1862463911,2
--82564216(+) AGCTAA/GACATT 1 -- ut310--------

HapMap Linkage Disequilibrium report for C9orf152 (112952328 - 112970469 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for C9orf152:    About this table    
Variant IDTypeSubtypePubMed ID
esv2752274CNV Gain17911159
nsv524745CNV Gain19592680
dgv494n21CNV Gain19592680
nsv893712CNV Gain21882294
nsv893713CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
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DNA2.0 Custom Variant and Variant Library Synthesis for C9orf152

(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.)
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C9orf152 for disorders           About GeneDecksing

Genetic Association Database (GAD): C9orf152

Export disorders for C9orf152 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)
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PubMed articles for C9orf152 gene integrated from 10 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. (Nature 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. (Genome Res. 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. (amp 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 401546 HGNC: 31455 AceView: C9orf152 Ensembl:ENSG00000188959 euGenes: HUgn401546
ECgene: C9orf152 H-InvDB: C9orf152

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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.)
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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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