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C17orf96 Gene

protein-coding   GIFtS: 33
GCID: GC17M036827          (predicted)

Chromosome 17 Open Reading Frame 96

  Search for C17orf96
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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Aliases
Chromosome 17 Open Reading Frame 961 2
Uncharacterized Protein C17orf962
Uncharacterized Protein ENSP000003179052

External Ids:    HGNC: 344931   Entrez Gene: 1001708412   Ensembl: ENSG000001792947   UniProtKB: A6NHQ43   

Export aliases for C17orf96 gene to outside databases

Previous GC identifers: GC17M034084 GC17M032624


(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 C17orf96 Gene:
C17orf96 (chromosome 17 open reading frame 96) is a protein-coding gene. An important paralog of this gene is SKIDA1.


(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_000017.11  NC_018928.2  NT_010783.16  NT_187614.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the C17orf96 gene promoter:
         AML1a   NF-kappaB2   HOXA5   c-Myb   XBP-1   NF-kappaB1   NF-kappaB   Pax-4a   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C17orf96

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C17orf96


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

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q12

C17orf96 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf96 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M036827:  view genomic region     (about GC identifiers)

Start:
36,827,956 bp from pter      End:
36,831,187 bp from pter
Size:
3,232 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: CQ096_HUMAN, A6NHQ4 (See protein sequence)
Recommended Name: Uncharacterized protein C17orf96  
Size: 379 amino acids; 39322 Da

Explore the universe of human proteins at neXtProt for C17orf96: NX_A6NHQ4

Explore proteomics data for C17orf96 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C17orf96 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001124149.1  
    ENSEMBL proteins: 
     ENSP00000317905  

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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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    1 InterPro protein domain:
     IPR027971 DUF4584

    Graphical View of Domain Structure for InterPro Entry A6NHQ4

    ProtoNet protein and cluster: A6NHQ4


    C17orf96 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,
    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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    (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
    mitochondrion2
    nucleus2
    endoplasmic reticulum1

    (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 C17orf96
    Interactions:

        Search GeneGlobe Interaction Network for C17orf96

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C17orf96 (ENSP000003179054) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUZ12ENSP000003165784STRING: ENSP00000316578
    About this table

    (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 C17orf96 (CQ096)



    (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 C17orf96 gene: 
    NM_001130677.1  

    Unigene Cluster for C17orf96:

    Chromosome 17 open reading frame 96
    Hs.445574  [show with all ESTs]
    Unigene Representative Sequence: NM_001130677
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000325814(uc010wdq.2)
    miRNA
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    4 DOTS entries:

    DT.311653  DT.100810253  DT.86838062  DT.91684977 

    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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    C17orf96 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C17orf96 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.445574
        Custom PCR Arrays for C17orf96
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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 C17orf96 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia E130012A19Rik1 , 5 RIKEN cDNA E130012A19 gene1, 5 80.8(n)1
    76.09(a)1
      11 (61.03 cM)5
    1035511  NM_175332.31  NP_780541.21 
     976273895 
    lizard
    (Anolis carolinensis)
    Reptilia C17orf966
    chromosome 17 open reading frame 96
    10(a)
    1 ↔ 1
    6(73193635-73195466)


    ENSEMBL Gene Tree for C17orf96 (if available)
    TreeFam Gene Tree for C17orf96 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C17orf96 gene
    SKIDA12  

    C17orf96 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), 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 C17orf96 (see all 63)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs80706411,2
    C,F--36827523(+) GAAGAG/ATATTT 1 -- ds50016Minor allele frequency- A:0.26WA NA EA 364
    rs611329371,2
    C,F--36827597(+) GCAGGC/TGGGTG 1 -- ds50016Minor allele frequency- T:0.32WA NA CSA EA 244
    rs1833304751,2
    --36827657(+) AATCAA/GGGAGT 1 -- ds50010--------
    rs1887400841,2
    C--36827907(+) CACCCA/TCCCCA 1 -- ds50010--------
    rs99050311,2
    C,F,H--36827932(+) cccaAG/TGAAAG 1 -- ds50012Minor allele frequency- T:0.03NS 240
    rs1923670671,2
    --36828172(+) TTGTTC/TGGCAG 1 -- ut310--------
    rs1441086081,2
    --36828302(+) CCTAGC/GTGGAG 1 -- ut310--------
    rs1388521601,2
    --36828378(+) CAAACC/GTAATC 1 -- ut310--------
    rs1832816811,2
    C--36828397(+) CTGCCA/CCTTTC 1 -- ut310--------
    rs744082731,2
    C,F--36828429(+) ACTCCC/TGCAAT 1 -- ut311Minor allele frequency- T:0.10WA 118

    HapMap Linkage Disequilibrium report for C17orf96 (36827956 - 36831187 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C17orf96:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908194CNV Loss21882294
    nsv833438CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
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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.)
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      --

    (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 C17orf96 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C17orf96)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Reciprocal interactions of human C10orf12 and C17orf96 with PRC2 revealed by BioTAP-XL cross-linking and affinity purification. (PubMed id 24550272)1, 3 Alekseyenko A.A....Kuroda M.I. (Proc. Natl. Acad. Sci. U.S.A. 2014)
    2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (Nature 2006)
    3. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)

    (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: 100170841 HGNC: 34493 Ensembl:ENSG00000179294 euGenes: HUgn100170841 ECgene: C17orf96
    H-InvDB: C17orf96

    (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 C17orf96 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 C17orf96 gene:
    Search GeneIP for patents involving C17orf96

    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
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