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

C9orf96 Gene

protein-coding   GIFtS: 41
GCID: GC09P136243

Chromosome 9 Open Reading Frame 96

  Search for C9orf96
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 961 2
Sugen Kinase 0712 3
SgK0712
Sk5212
Probable Inactive Protein Kinase-Like Protein SgK0712

External Ids:    HGNC: 286691   Entrez Gene: 1694362   Ensembl: ENSG000001988707   UniProtKB: Q8NE283   

Export aliases for C9orf96 gene to outside databases

Previous GC identifers: GC09P131520 GC09P133272 GC09P135233 GC09P105743


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

GeneCards Summary for C9orf96 Gene: 
C9orf96 (chromosome 9 open reading frame 96) is a protein-coding gene. GO annotations related to this gene include protein kinase activity and ATP binding.


(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_035014.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C9orf96 gene promoter:
         HFH-3   Lmo2   STAT5A   Nkx2-5   HNF-3beta   C/EBPalpha   FOXL1   FOXI1   HOXA5   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C9orf96

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf96


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

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

C9orf96 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf96 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P136243:  view genomic region     (about GC identifiers)

Start:
136,243,117 bp from pter      End:
136,271,220 bp from pter
Size:
28,104 bases      Orientation:
plus strand

1 alternative location:
Chr9+,NW_003315925 202,507-232,190     

(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: SGK71_HUMAN, Q8NE28 (See protein sequence)
Recommended Name: Probable inactive protein kinase-like protein SgK071  
Size: 680 amino acids; 75676 Da
Caution: Asn-157 is present instead of the conserved Asp which is expected to be an active site residue
Secondary accessions: Q5T8U8 Q6ZMP6 Q6ZMQ5
Alternative splicing: 3 isoforms:  Q8NE28-1   Q8NE28-2   Q8NE28-3   

Explore the universe of human proteins at neXtProt for C9orf96: NX_Q8NE28

Explore proteomics data for C9orf96 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NE28

  • C9orf96 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C9orf96 Protein Expression
    REFSEQ proteins: NP_714921.4  
    ENSEMBL proteins: 
     ENSP00000361025   ENSP00000398807   ENSP00000361023  

    Human Recombinant Protein Products for C9orf96: 
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    Browse Proteins at Cloud-Clone Corp. 


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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: chromosome 9 open reading frame 96 
    Other-unique family

    3 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_cat_dom
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q8NE28

    ProtoNet protein and cluster: Q8NE28

    UniProtKB/Swiss-Prot: SGK71_HUMAN, Q8NE28
    Domain: The protein kinase domain is predicted to be catalytically inactive
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily
    Similarity: Contains 1 protein kinase domain


    C9orf96 for domains           About GeneDecksing


    (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

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005488binding ----
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
         
    C9orf96 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for C9orf96:
     Decreased substrate adherent c  Decreased viability with RAF26 

    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 C9orf96

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----

    C9orf96 for ontologies           About GeneDecksing



    (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 C9orf96 (SGK71)

    Search CenterWatch for drugs/clinical trials and news about C9orf96 / SGK71

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 C9orf96 gene: 
    NM_153710.4  

    Unigene Cluster for C9orf96:

    Chromosome 9 open reading frame 96
    Hs.720195  [show with all ESTs]
    Unigene Representative Sequence: AK131545
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371957(uc004cdk.3) ENST00000468046 ENST00000475232 ENST00000462310
    ENST00000477284 ENST00000426926 ENST00000371955(uc004cdl.3)
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate C9orf96:
    hsa-miR-3690 hsa-miR-4254
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C9orf96
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    Additional mRNA sequence: 

    AK131545.1 AK294947.1 BC036504.2 

    7 DOTS entries:

    DT.99942692  DT.102830603  DT.405885  DT.121151741  DT.99958610  DT.97818992  DT.40259859 

    24/30 AceView cDNA sequences (see all 30):

    BC036504 AL044935 BQ944986 NM_153710 BX114483 AI936591 AI658791 BQ184985 
    AK131533 AI554166 Z43309 BM015576 AK131545 AV763896 BX454132 Z39384 
    BF983763 AI799141 BI913727 CD630108 AW183662 CB050444 AA418660 BI458908 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf96    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                                                  -                       -           -                                 
    SP2:                                                                                                                        
    SP3:                                            -     -     -     -           -                                             
    SP4:                                                                                                                        


    ECgene alternative splicing isoforms for C9orf96

    (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

    C9orf96 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTAACTGCT
    C9orf96 Expression
    About this image


    See C9orf96 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C9orf96

    SOURCE GeneReport for Unigene cluster: Hs.720195
        SABiosciences Custom PCR Arrays for C9orf96
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf96

    (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 C9orf96 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm7111 , 5 predicted gene 7111, 5 73.54(n)1
    62.5(a)1
      2 (19.12 cM)5
    2790291  NM_198628.21  NP_941030.21 
     269340475 
    chicken
    (Gallus gallus)
    Aves C17H9orf961 chromosome 17 open reading frame, human C9orf96 49.65(n)
    32.07(a)
      417154  XM_415437.3  XP_415437.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    30(a)
    28(a)
    many → 1
    many → 1
    AAWZ02040132(99-7103)
    GL344658.1(17803-27321)


    ENSEMBL Gene Tree for C9orf96 (if available)
    TreeFam Gene Tree for C9orf96 (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

    10/774 SNPs in C9orf96 are shown (see all 774)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1475046731,2
    --136245095(+) AAGGCC/TGGATT 1 -- int10--------
    rs1159982341,2
    C,F--136245228(+) ATCCCC/TGGCCC 1 -- int11Minor allele frequency- T:0.10WA 118
    rs1402420811,2
    --136245229(+) TCCCCA/GGCCCA 1 -- int10--------
    rs1391805211,2
    C--136245285(+) GGTGG-/CCA   
       TCTCT
    CCAGA
    1 -- int10--------
    rs1429707761,2
    --136245416(+) CCCCAA/GTGTAA 1 -- int10--------
    rs1122719151,2
    C--136245686(+) AGAAG-/AGCTCC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1852743011,2
    --136245758(+) GGGCCA/CTTTCC 1 -- int10--------
    rs78528031,2
    C,F,A,H--136245903(+) TGCTGA/GTAGGT 1 -- int122Minor allele frequency- G:0.11NA EA NS CSA WA EU 3790
    rs563601061,2
    C--136245912(+) GTTTTA/GTACCA 2 L syn10--------
    rs1469009351,2
    C,F--136245917(+) GTACCA/GGCTGA 2 Q R mis11Minor allele frequency- G:0.00NA 4552

    HapMap Linkage Disequilibrium report for C9orf96 (136243117 - 136271220 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for C9orf96:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2657001CNV Deletion23128226
    esv2739138CNV Deletion23290073
    nsv512995CNV Insertion21212237
    nsv512996CNV Insertion21212237
    nsv894081CNV Loss21882294
    nsv894076CNV Loss21882294
    dgv8325n71CNV Loss21882294
    nsv894080CNV Loss21882294
    nsv433408CNV Gain18776910

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for C9orf96

    (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

    C9orf96 for disorders           About MalaCards

    C9orf96 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C9orf96

    Export disorders for C9orf96 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 C9orf96 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C9orf96)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    4. The protein kinase complement of the human genome. (PubMed id 12471243)1, 2 Manning G.... Sudarsanam S. (2002)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    6. Linkage analysis identifies a locus for plasma von Wil lebrand factor undetected by genome-wide association. (PubMed id 23267103)1 Desch K.C....Ginsburg D. (2013)
    7. Genome-wide association identifies the ABO blood grou p as a major locus associated with serum levels of soluble E-selectin. (PubMed id 19729612)4 Paterson A.D....Bull S.B. (2009)
    8. Patterns of somatic mutation in human cancer genomes. (PubMed id 17344846)2 Greenman C.... Stratton M.R. (2007)

    (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: 169436 HGNC: 28669 AceView: C9orf96 Ensembl:ENSG00000198870 euGenes: HUgn169436
    ECgene: C9orf96 H-InvDB: C9orf96

    (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 C9orf96 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 C9orf96 gene:
    Search GeneIP for patents involving C9orf96

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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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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