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

C14orf39 Gene

protein-coding   GIFtS: 37
GCID: GC14M060863

chromosome 14 open reading frame 39

  Search for C14orf39
in our new
 Human Malady Compendium 
Biological research products
for C14orf39
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chromosome 14 Open Reading Frame 391 2
Six6 Opposite Strand Transcript 12 3
SIX6OS11
Six6os12
Protein SIX6OS12

External Ids:    HGNC: 198491   Entrez Gene: 3177612   Ensembl: ENSG000001790087   UniProtKB: Q8N1H73   

Export aliases for C14orf39 gene to outside databases

Previous GC identifers: GC14M054696 GC14M058853 GC14M058892 GC14M059972 GC14M041066


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

UniProtKB/Swiss-Prot: S6OS1_HUMAN, Q8N1H7
Function: May be involved in eye development through regulation of the SIX6 transcription factor




(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_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C14orf39 gene promoter:
         Nkx3-1   Nkx3-1 v4   RP58   GCNF   Nkx3-1 v1   C/EBPalpha   Nkx3-1 v2   FOXJ2 (long isoform)   Nkx3-1 v3   FOXJ2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C14orf39

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C14orf39


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

Entrez Gene cytogenetic band: 14q23.1   Ensembl cytogenetic band:  14q23.1   HGNC cytogenetic band: 14q23.1

C14orf39 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C14orf39 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M060863:  view genomic region     (about GC identifiers)

Start:
60,863,187 bp from pter      End:
60,982,261 bp from pter
Size:
119,075 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: S6OS1_HUMAN, Q8N1H7 (See protein sequence)
Recommended Name: Protein SIX6OS1  
Size: 587 amino acids; 68166 Da
Secondary accessions: Q08AQ4

Explore the universe of human proteins at neXtProt for C14orf39: NX_Q8N1H7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N1H7

  • C14orf39 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_777638.2  
    ENSEMBL proteins: 
     ENSP00000451937   ENSP00000324920   ENSP00000450476   ENSP00000451665   ENSP00000451441  

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    Uscn Proteins for C14orf39

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--


    C14orf39 for ontologies           About GeneDecksing



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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: Q8N1H7


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: S6OS1_HUMAN, Q8N1H7
    Function: May be involved in eye development through regulation of the SIX6 transcription factor

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    C14orf39 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for C14orf39:
     Increased homologous recombina 


    (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 C14orf39

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0051090regulation of sequence-specific DNA binding transcription factor activity NAS15703187


    C14orf39 for ontologies           About GeneDecksing



    (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 C14orf39
    Search CenterWatch for drugs/clinical trials and news about C14orf39 / S6OS1 

    (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,
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    About This Section

    REFSEQ mRNAs for C14orf39 gene: 
    NM_174978.2  

    Unigene Cluster for C14orf39:

    Chromosome 14 open reading frame 39
    Hs.335754  [show with all ESTs]
    Unigene Representative Sequence: AL832219
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498565 ENST00000321731(uc001xez.4 uc010apo.3) ENST00000557138
    ENST00000555476 ENST00000556799

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    Additional cDNA sequence: 

    AK098187.1 AL832219.1 BC125070.1 BC125071.1 

    3 DOTS entries:

    DT.97779429  DT.120782768  DT.97815858 

    8 AceView cDNA sequences:

    AW188354 AL832219 NM_174978 AI024589 BQ435611 AW511757 AK098187 BF087559 

    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

    C14orf39 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTACAATTCT

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

    About this image
    See C14orf39 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C14orf39

    SOURCE GeneReport for Unigene cluster: Hs.335754

    UniProtKB/Swiss-Prot: S6OS1_HUMAN, Q8N1H7
    Tissue specificity: Highest expression in retina, skeletal muscle and colon

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C14orf39

    (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 C14orf39 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 4930447C04Rik1 , 5 RIKEN cDNA 4930447C04 gene1, 5 83.04(n)1
    70.73(a)1
      12 (30.30 cM)5
    758011  NM_029444.21  NP_083720.11 
     728811095 
    chicken
    (Gallus gallus)
    Aves LOC1008596341 uncharacterized LOC100859634 64.81(n)
    45.14(a)
      100859634  XM_003641443.1  XP_003641491.1 
    lizard
    (Anolis carolinensis)
    Reptilia C14orf396
    --
    49(a)
    1 ↔ 1
    GL343261.1(992193-992363)


    ENSEMBL Gene Tree for C14orf39 (if available)
    TreeFam Gene Tree for C14orf39 (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

    10/25 NCBI SNPs in C14orf39 are shown (see all 25    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs563513291,2
    C,--60902200(+) GATGG-/TTTTTT 1 -- ds50012Minor allele frequency- T:0.25NA 4
    rs358460231,2
    C,--60932570(+) TTATA-/ACACACACAC
    ACACACACACAC
    ACACA
    1 -- int10--------
    rs105292021,2
    C--60932590(+) cacac-/ACACACACAC
    ACACACACACAC
    GTCTG
    1 -- int11Minor allele frequency- ACACACACACACACACACACAC:0.00NA 2
    rs1886172711,2
    --60933082(+) TATAAC/TGTATT 1 -- int10--------
    rs775138641,2
    F,--60933174(+) TTAATT/CAAACG 1 -- int11Minor allele frequency- C:0.03WA 118
    rs80126281,2
    C,F,H,--60933193(+) AAAACC/AATGAT 1 -- int17Minor allele frequency- A:0.31NS EA NA 658
    rs1816903241,2
    --60933198(+) CATGAC/TTACTT 1 -- int10--------
    rs2006948631,2
    --60935003(+) AATAT-/TTAAG 
            
    TTAAT
    1 -- int10--------
    rs113146331,2
    C,--60938960(+) ACTCT-/TGTGTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs340911781,2
    C,--60945651(+) ATACA-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for C14orf39 (60863187 - 60982261 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C14orf39: --

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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 C14orf39 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C14orf39)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Natural antisense transcripts associated with genes involved in eye development. (PubMed id 15703187)1, 2 Alfano G.... Banfi S. (2005)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    4. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)
    5. 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: 317761 HGNC: 19849 AceView: C14orf39 Ensembl:ENSG00000179008 euGenes: HUgn317761
    ECgene: C14orf39 H-InvDB: C14orf39

    (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 C14orf39 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 C14orf39 gene:
    Search GeneIP for patents involving C14orf39

    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 , 27 Apr 2013

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    VWF
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    von Willebrand factor
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