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C7orf62 Gene

protein-coding   GIFtS: 39
GCID: GC07M088423

Chromosome 7 Open Reading Frame 62

  Search for C7orf62
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 7 Open Reading Frame 621 2
Uncharacterized Protein C7orf622

External Ids:    HGNC: 224021   Entrez Gene: 2195572   Ensembl: ENSG000001646457   UniProtKB: Q8TBZ93   

Export aliases for C7orf62 gene to outside databases

Previous GC identifers: GC07M088262 GC07M083032


(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 C7orf62 Gene:
C7orf62 (chromosome 7 open reading frame 62) 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_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the C7orf62 gene promoter:
         SRF   AML1a   SRF (504 AA)   E4BP4   Cdc5   Evi-1   RORalpha2   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC7orf62 promoter sequence
   Search Chromatin IP Primers for C7orf62

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C7orf62


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

Entrez Gene cytogenetic band: 7q21.13   Ensembl cytogenetic band:  7q21.13   HGNC cytogenetic band: 7q21.13

C7orf62 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7orf62 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M088423:  view genomic region     (about GC identifiers)

Start:
88,423,420 bp from pter      End:
88,425,035 bp from pter
Size:
1,616 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 87,754,527-87,756,138     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CG062_HUMAN, Q8TBZ9 (See protein sequence)
Recommended Name: Uncharacterized protein C7orf62  
Size: 253 amino acids; 29483 Da

Explore the universe of human proteins at neXtProt for C7orf62: NX_Q8TBZ9

Explore proteomics data for C7orf62 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C7orf62 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689919.1  
    ENSEMBL proteins: 
     ENSP00000297203  

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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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    ProtoNet protein and cluster: Q8TBZ9


    (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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    Phenotypes:
         1 GenomeRNAi human phenotype for C7orf62:
     Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C7orf62
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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
    cytosol2
    mitochondrion2
    golgi apparatus1
    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 C7orf62
    Interactions:

        Search GeneGlobe Interaction Network for C7orf62

    (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 C7orf62 (CG062)



    (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 C7orf62 gene: 
    NM_152706.3  

    Unigene Cluster for C7orf62:

    Chromosome 7 open reading frame 62
    Hs.112877  [show with all ESTs]
    Unigene Representative Sequence: BC028365
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000297203(uc003ujv.3)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat C7orf62

    Additional mRNA sequence: BC028365.2 

    1 DOTS entry:

    DT.100015099 

    21 AceView cDNA sequences:

    BI827959 NM_152706 BX108605 BC028365 AI203421 AI807251 AA992398 BI832224 
    AI377781 AW631176 AW341494 BG773400 AI674766 BI827707 AI239687 AA922104 
    AI242104 AI239609 AA625640 AA905606 AA620653 

    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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    C7orf62 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAAGATGA
    C7orf62 Expression
    About this image

    C7orf62 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C7orf62 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.112877
        Custom PCR Arrays for C7orf62
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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 C7orf62 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4921511H03Rik1 , 5 RIKEN cDNA 4921511H03 gene1, 5 75.63(n)1
    70.36(a)1
      5 (3.37 cM)5
    709201  NM_027603.21  NP_081879.11 
     73041255 
    chicken
    (Gallus gallus)
    Aves C7orf626
    chromosome 7 open reading frame 62
    33(a)
    1 ↔ 1
    14(6550414-6553689) ENSGALG00000005938
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    39(a)
    34(a)
    many → 1
    many → 1
    2(105931736-105939562)
    AAWZ02041825(1814-5140)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004971111 uncharacterized LOC100497111 46.7(n)
    38.65(a)
      100497111  XM_002937018.2  XP_002937064.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000067701 uncharacterized LOC100006770 44.91(n)
    33.33(a)
      100006770  XM_005173005.1  XP_005173062.1 


    ENSEMBL Gene Tree for C7orf62 (if available)
    TreeFam Gene Tree for C7orf62 (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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    5 SNPs for C7orf62    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs23733971,2,4
    ----see VAR_0393542 mis40--------
    rs23733961,2,4
    ----see VAR_0393512 mis40--------
    rs22935831,2,4
    ----see VAR_0393522 mis40--------
    rs342763711,2,4
    ----see VAR_0393532 mis40--------
    rs23733981,2,4
    ----see VAR_0393552 mis40--------

    HapMap Linkage Disequilibrium report for C7orf62 (88423420 - 88425035 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for C7orf62:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2752188CNV Gain17911159
    esv2752187CNV Gain17911159
    nsv464626CNV Gain19166990
    nsv515995CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C7orf62
    DNA2.0 Custom Variant and Variant Library Synthesis for C7orf62

    (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 C7orf62           About GenesLikeMe

    Genetic Association Database (GAD): C7orf62

    Export disorders for C7orf62 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 C7orf62 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C7orf62)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2, 3 Scherer S.W.... Tsui L.-C. (Science 2003)
    2. Novel associations for hypothyroidism include known autoimmune risk loci. (PubMed id 22493691)1 Eriksson N....Do C.B. (PLoS ONE 2012)
    3. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    4. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    6. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PubMed id 17903303)4 O'Donnell C.J....Demissie S. (BMC Med. Genet. 2007)
    7. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (BMC Med. Genet. 2007)
    8. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
    9. 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)
    10. 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: 219557 HGNC: 22402 AceView: MGC26647 Ensembl:ENSG00000164645 euGenes: HUgn219557
    ECgene: C7orf62 H-InvDB: C7orf62

    (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 C7orf62 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 C7orf62 gene:
    Search GeneIP for patents involving C7orf62

    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, 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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