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

C6orf223 Gene

protein-coding   GIFtS: 36
GCID: GC06P043968

chromosome 6 open reading frame 223

  Search for C6orf223
in our new
 Human Malady Compendium 
Biological research products
for C6orf223
    

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

Aliases
Chromosome 6 Open Reading Frame 2231 2
MGC454911
Uncharacterized Protein C6orf2232

External Ids:    HGNC: 286921   Entrez Gene: 2214162   Ensembl: ENSG000001815777   UniProtKB: Q8N3193   

Export aliases for C6orf223 gene to outside databases

Previous GC identifers: GC06P044077 GC06P043690


(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_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C6orf223 gene promoter:
         STAT5B   STAT1   RFX1   Pax-5   STAT4   STAT1beta   STAT5A   STAT1alpha   STAT2   STAT3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C6orf223

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C6orf223


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

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

C6orf223 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf223 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P043968:  view genomic region     (about GC identifiers)

Start:
43,968,317 bp from pter      End:
43,973,695 bp from pter
Size:
5,379 bases      Orientation:
plus 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: CF223_HUMAN, Q8N319 (See protein sequence)
Recommended Name: Uncharacterized protein C6orf223  
Size: 242 amino acids; 26113 Da
Sequence caution: Sequence=AAH32706.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: Q8N575

Explore the universe of human proteins at neXtProt for C6orf223: NX_Q8N319

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N319

  • C6orf223 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001165463.1  NP_694978.2  

    ENSEMBL proteins: 
     ENSP00000426159   ENSP00000423262  

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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: Q8N319


    (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

    miRNA
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    1 GenomeRNAi human phenotype for C6orf223:
     Increased G1 DNA content 


    (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 C6orf223

    (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 C6orf223
    Search CenterWatch for drugs/clinical trials and news about C6orf223 / CF223 

    (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 C6orf223 gene (2 alternative transcripts): 
    NM_001171992.1  NM_153246.4  

    Unigene Cluster for C6orf223:

    Chromosome 6 open reading frame 223
    Hs.531926  [show with all ESTs]
    Unigene Representative Sequence: NM_001171992
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000442114(uc003owo.3 uc003own.3) ENST00000336600 ENST00000439969
    ENST00000448947

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    Additional cDNA sequence: BC029071.2 

    5 DOTS entries:

    DT.97783955  DT.40196064  DT.75123914  DT.92416763  DT.95147876 

    24/52 AceView cDNA sequences (see all 52):

    AW651749 BX099829 CR590009 AW849503 AW136542 BF591275 BC029071 BX090075 
    CR590223 AW297349 AI655624 BM714177 BF591021 AW273087 AA522884 BF508463 
    BM795060 AI917732 AI962299 AA552719 AA857189 CF780738 AW024064 AW008061 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C6orf223    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4
    SP1:                    -     -                     
    SP2:                    -                           
    SP3:                    -     -     -               
    SP4:                                                


    ECgene alternative splicing isoforms for C6orf223

    (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

    C6orf223 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGCCCAGGC

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

    About this image
    See C6orf223 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C6orf223

    SOURCE GeneReport for Unigene cluster: Hs.531926
        SABiosciences Custom PCR Arrays for C6orf223
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6orf223

    (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
      --

    ENSEMBL Gene Tree for C6orf223 (if available)
    TreeFam Gene Tree for C6orf223 (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

    10/195 NCBI SNPs in C6orf223 are shown (see all 195    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1159013961,2
    F,--43966466(+) CATGGT/AGAACC 2 -- us2k13Minor allele frequency- A:0.18WA NA EA 358
    rs1152651491,2
    F,--43966496(+) GTAAAC/AGCACC 2 -- us2k12Minor allele frequency- A:0.10NA EA 240
    rs1169388881,2
    F,--43966609(+) CAACCC/TGCTGG 2 -- us2k11Minor allele frequency- T:0.17EA 120
    rs1180095481,2
    F,--43966616(+) CTGGGA/GTCCCT 2 -- us2k11Minor allele frequency- G:0.11EA 120
    rs1480181231,2
    --43966628(+) TCCACA/GCTGTG 2 -- us2k10--------
    rs1808471601,2
    --43966692(+) GGTCCA/GCGCTG 2 -- us2k10--------
    rs1153085801,2
    F,--43966694(+) TCCACG/ACTGCC 2 -- us2k11Minor allele frequency- A:0.07NA 120
    rs1416847701,2
    --43966721(+) CTCACC/TGCGAA 2 -- us2k10--------
    rs1854479201,2
    --43966722(+) TCACCA/GCGAAG 2 -- us2k10--------
    rs1885907691,2
    --43966780(+) AGGAAC/GAGACA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for C6orf223 (43968317 - 43973695 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C6orf223: --

    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 C6orf223 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C6orf223)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Identification of cis- and trans-acting genetic varia nts explaining up to half the variation in circulating vascular endothelial gro wth factor levels. (PubMed id 21757650)1 Debette S....Seshadri S. (2011)
    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. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 221416 HGNC: 28692 AceView: MGC45491 Ensembl:ENSG00000181577 euGenes: HUgn221416
    ECgene: C6orf223 H-InvDB: C6orf223

    (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 C6orf223 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 C6orf223 gene:
    Search GeneIP for patents involving C6orf223

    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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     Browse SwitchGear Promoter luciferase reporter plasmids for C6orf223
     Search ThermoFisher Antibodies for C6orf223
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C6orf223
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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