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C3orf67 Gene

protein-coding   GIFtS: 39
GCID: GC03M058703

Chromosome 3 Open Reading Frame 67

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(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 3 Open Reading Frame 671 2
Uncharacterized Protein C3orf672

External Ids:    HGNC: 247631   Entrez Gene: 2008442   Ensembl: ENSG000001636897   UniProtKB: Q6ZVT63   

Export aliases for C3orf67 gene to outside databases


(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 C3orf67 Gene:
C3orf67 (chromosome 3 open reading frame 67) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C3orf67 gene promoter:
         Nkx3-1   C/EBPbeta   AML1a   POU6F1 (c2)   Tal-1beta   E47   MEF-2A   FOXJ2 (long isoform)   FOXJ2   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C3orf67

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C3orf67


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

Entrez Gene cytogenetic band: 3p14.2   Ensembl cytogenetic band:  3p14.2   HGNC cytogenetic band: 3p14.2

C3orf67 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C3orf67 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M058703:  view genomic region     (about GC identifiers)

Start:
58,703,092 bp from pter      End:
59,035,810 bp from pter
Size:
332,719 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CC067_HUMAN, Q6ZVT6 (See protein sequence)
Recommended Name: Uncharacterized protein C3orf67  
Size: 689 amino acids; 76271 Da
Sequence caution: Sequence=BAC85994.1; Type=Erroneous initiation;
Secondary accessions: B9EKV6 Q6ZV69
Alternative splicing: 2 isoforms:  Q6ZVT6-1   Q6ZVT6-2   

Explore the universe of human proteins at neXtProt for C3orf67: NX_Q6ZVT6

Explore proteomics data for C3orf67 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C3orf67 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_940865.1  
    ENSEMBL proteins: 
     ENSP00000421046   ENSP00000419245   ENSP00000419949   ENSP00000417917   ENSP00000295966  
     ENSP00000417122   ENSP00000419142   ENSP00000417881   ENSP00000417271   ENSP00000419028  
     ENSP00000418832   ENSP00000417639  

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    antibodies-online kits for C3orf67 (2 products) 


    (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:
     IPR007714 DUF667

    Graphical View of Domain Structure for InterPro Entry Q6ZVT6

    ProtoNet protein and cluster: Q6ZVT6


    Find genes that share domains with C3orf67           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C3orf67
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    hsa-miR-374c hsa-miR-141 hsa-miR-655 hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidC3orf67 3' UTR sequence
    Inhib. RNA
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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
    extracellular2
    cytosol1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    (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 C3orf67
    Interactions:

        Search GeneGlobe Interaction Network for C3orf67

    (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 C3orf67 (CC067)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for C3orf67 gene: 
    NM_198463.2  

    Unigene Cluster for C3orf67:

    Chromosome 3 open reading frame 67
    Hs.368434  [show with all ESTs]
    Unigene Representative Sequence: BC075863
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486145 ENST00000470454 ENST00000484535(uc003dkr.1) ENST00000460459
    ENST00000295966(uc003dkt.1) ENST00000482387(uc003dks.1) ENST00000468415(uc003dkv.1 uc011bfg.1)
    ENST00000495572 ENST00000472469(uc003dkw.3) ENST00000479931 ENST00000491845
    ENST00000471288 ENST00000478363
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate C3orf67:
    hsa-miR-374c hsa-miR-141 hsa-miR-655 hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidC3orf67 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat C3orf67
      QuantiFast Probe-based Assays in human, mouse, rat C3orf67

    Additional mRNA sequence: 

    AK123809.1 AK124111.1 AK124920.1 AK128200.1 AK296111.1 BC050317.1 BC075863.1 BC132815.1 
    BC140002.1 BC151142.1 

    7 DOTS entries:

    DT.101979229  DT.101955539  DT.206099  DT.101978947  DT.305937  DT.40125521  DT.75118341 

    Selected AceView cDNA sequences (see all 58):

    BQ220520 NM_198463 BX107912 AA830398 AK124920 BM801395 BC075863 AA649165 
    BQ014738 AK124111 AJ710451 BX111379 AA251549 AK128200 CF144904 AA251606 
    AA969138 BI850466 AI809506 AI220558 BX108085 BC050317 AA437052 BG205192 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C3orf67    About this scheme

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


    ECgene alternative splicing isoforms for C3orf67

    (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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    C3orf67 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    C3orf67 Expression
    About this image

    C3orf67 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C3orf67 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368434
        Custom PCR Arrays for C3orf67
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    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 C3orf67 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4930452B06Rik1 , 5 RIKEN cDNA 4930452B06 gene1, 5 78.81(n)1
    74.5(a)1
      14 (4.87 cM)5
    744301  NM_028934.31  NP_083210.31 
     84311925 
    chicken
    (Gallus gallus)
    Aves C3orf676
    chromosome 3 open reading frame 67
    44(a)
    1 ↔ 1
    12(11869223-11932886)
    lizard
    (Anolis carolinensis)
    Reptilia C3orf676
    chromosome 3 open reading frame 67
    39(a)
    1 ↔ 1
    2(186714593-186925155)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.194592 Transcribed sequences 73.78(n)    BQ617531.1 


    ENSEMBL Gene Tree for C3orf67 (if available)
    TreeFam Gene Tree for C3orf67 (if available)

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

    (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 C3orf67 (see all 5363)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1488601431,2
    Cuntested158849375(+) TAAATG/AAGAGC 2 /S /L mis11Minor allele frequency- A:0.00NA 4550
    rs1130039101,2
    C,F--58727322(+) GGGTTG/CGCGCC 1 -- ds50011Minor allele frequency- C:0.50WA 2
    rs802336591,2
    C--58727324(+) GTTCGC/TGCCAT 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1870330251,2
    --58727424(+) TTCACC/TGTGTT 1 -- ds50010--------
    rs1918438751,2
    --58727563(+) CTCTGA/GATGAA 1 -- ds50010--------
    rs1441140451,2
    C--58727630(+) GACCAA/GTTCAC 1 -- ds50010--------
    rs738379431,2
    C,F--58727687(+) GAATAG/TTCTGG 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1144351201,2
    --58727863(+) AAAATC/TTGAAT 1 -- ut310--------
    rs801002501,2
    C,F--58727944(+) AAGAAC/ACAATT 1 -- ut315Minor allele frequency- A:0.16CSA WA NA EA 362
    rs1820964741,2
    --58727964(+) AAAATC/TTTGCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C3orf67 (58703092 - 58953092 bp, first 250kb of C3orf67)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for C3orf67:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422022CNV Deletion20811451
    esv269662CNV Insertion20981092
    esv273797CNV Insertion20981092
    nsv834704CNV Loss17160897
    esv21695CNV Loss19812545
    nsv511230CNV Loss21212237
    nsv822104CNV Loss20364138
    dgv5144n71CNV Gain21882294
    esv274884CNV Gain+Loss21479260

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with C3orf67           About GenesLikeMe

    Genetic Association Database (GAD): C3orf67
    Human Genome Epidemiology (HuGE) Navigator: C3orf67 (1 document)

    Export disorders for C3orf67 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)
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    PubMed articles for C3orf67 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C3orf67)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    3. Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. (PubMed id 17903306)4 Newton-Cheh C....Larson M.G. (BMC Med. Genet. 2007)
    4. Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes. (PubMed id 17903304)4 Larson M.G....Levy D. (BMC Med. Genet. 2007)
    5. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    6. 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. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 200844 HGNC: 24763 AceView: FLJ42117 Ensembl:ENSG00000163689 euGenes: HUgn200844
    ECgene: C3orf67 H-InvDB: C3orf67

    (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 C3orf67 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 C3orf67 gene:
    Search GeneIP for patents involving C3orf67

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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