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

C7orf69 Gene

protein-coding   GIFtS: 37
GCID: GC07P047834

chromosome 7 open reading frame 69
  Search for C7orf69
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C7orf69    

Aliases
for C7orf69 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Chromosome 7 Open Reading Frame 691 2
FLJ210751
Uncharacterized Protein C7orf692

External Ids:    HGNC: 219111   Entrez Gene: 800992   Ensembl: ENSG000001362757   UniProtKB: Q9H7B73   

Export aliases for C7orf69 gene to outside databases

Previous GC identifers: GC07P047802 GC07P047718


Summaries
for C7orf69 gene

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

Genomic Views
for C7orf69 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C7orf69 gene promoter:
         Bach1   Sox5   USF1   Lmo2   Nkx2-5   Tal-1beta   Gfi-1   USF-1   HFH-1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C7orf69 promoter sequence
   Search SABiosciences Chromatin IP Primers for C7orf69

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C7orf69


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

Entrez Gene cytogenetic band: 7p12.3   Ensembl cytogenetic band:  7p12.3   HGNC cytogenetic band: 7p12

C7orf69 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7orf69 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P047834:  view genomic region     (about GC identifiers)

Start:
 47,834,889 bp from pter      End:
 47,859,445 bp from pter
Size:
 24,557 bases      Orientation:
 plus strand

1 alternative location:
Chr7+,CRA_TCAG 47,875,142-47,899,692     

Proteins
for C7orf69 gene

(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: CG069_HUMAN, Q9H7B7 (See protein sequence)
Recommended Name: Uncharacterized protein C7orf69 precursor  
Size: 122 amino acids; 14425 Da
Subcellular location: Secreted (Potential)
Secondary accessions: A4D2F1 Q14CN7 Q75MJ5

Explore the universe of human proteins at neXtProt for C7orf69: NX_Q9H7B7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H7B7

    • C7orf69 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079307.2  
    ENSEMBL proteins: 
     ENSP00000258776   ENSP00000389218  

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    Uscn Proteins for C7orf69

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--


    C7orf69 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for C7orf69

    Protein Domains /
    Families
    for C7orf69 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9H7B7


    Function
    for C7orf69 gene

    (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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    Pathways & Interactions
    for C7orf69 gene

    (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 C7orf69

    Drugs & Compounds
    for C7orf69 gene

    (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 C7orf69
    Search CenterWatch for drugs/clinical trials and news about C7orf69 / CG069 

    Transcripts
    for C7orf69 gene

    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for C7orf69 gene: 
    NM_025031.2  

    Unigene Cluster for C7orf69:

    Chromosome 7 open reading frame 69
    Hs.287647  [show with all ESTs]
    Unigene Representative Sequence: CA420605
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000258776(uc003tnz.4 uc003toa.1) ENST00000418326

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    Inhib. RNA
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    Additional cDNA sequence: 

    AK024728.1 BC113679.1 BC113681.1 

    3 DOTS entries:

    DT.91703539  DT.99934601  DT.99935834 

    5 AceView cDNA sequences:

    CA420605 AX747337 AK092057 AK024728 NM_025031 

    GeneLoc Exon Structure


    Expression
    for C7orf69 gene

    (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

    C7orf69 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGAAATGTC

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

    C7orf69 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C7orf69 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C7orf69

    SOURCE GeneReport for Unigene cluster: Hs.287647
        SABiosciences Custom PCR Arrays for C7orf69
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    In Situ
    Assay Products:     
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    Orthologs
    for C7orf69 gene

    (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 C7orf69 (if available)
    TreeFam Gene Tree for C7orf69 (if available) 

    Paralogs
    for C7orf69 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for C7orf69 gene

    (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

    10/464 NCBI SNPs in C7orf69 are shown (see all 464)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs568629391,2
    		--47832918(+) AACTTC/GAATTG 2 -- int1 us2k10--------
    rs1921018221,2
    		--47832997(+) TTCCCA/GTGCTA 2 -- int1 us2k10--------
    rs69695111,2
    		C,A,--47833096(+) TGCCAT/CGTAAG 2 -- int1 us2k14Minor allele frequency- C:0.12NA WA 8
    rs69695221,2
    		C,A,--47833119(+) CCTCTT/CGCCAT 2 -- us2k1 int1 tfbs31Minor allele frequency- C:0.00NA 2
    rs1850855001,2
    		--47833196(+) CAGTTA/GTATCT 2 -- int1 us2k10--------
    rs589425461,2
    		--47833297(+) CTTTGA/GAACTT 2 -- int1 us2k10--------
    rs69701321,2
    		C,A,--47833343(+) CAGAAG/AAAGAC 2 -- int1 us2k12Minor allele frequency- A:0.25NA 4
    rs1878923751,2
    		--47833367(+) AAAGTC/TTGGAA 2 -- us2k1 int10--------
    rs132392051,2
    		--47833471(+) GAACTT/CGTTGG 2 -- int1 us2k11Minor allele frequency- C:0.00NA 2
    rs1464523511,2
    		--47833639(+) TGGGTA/GCTGTT 2 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for C7orf69 (47834889 - 47859445 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C7orf69: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for C7orf69 gene

    (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
    		   --

    Publications
    for C7orf69 gene

    (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 C7orf69 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C7orf69)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    2. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    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)

    External Searches for C7orf69 gene

    (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)

    Genome Databases showing C7orf69 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80099 HGNC: 21911 AceView: FLJ21075 Ensembl:ENSG00000136275 euGenes: HUgn80099
    ECgene: C7orf69 H-InvDB: C7orf69

    Other Databases showing C7orf69 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C7orf69 gene

    (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 C7orf69 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for C7orf69 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C7orf69 gene:
    Search GeneIP for patents involving C7orf69

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for C7orf69 gene

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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 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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