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C7orf72 Gene

protein-coding   GIFtS: 38
GCID: GC07P050108

Chromosome 7 Open Reading Frame 72

  See related diseases
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 721 2
Uncharacterized Protein C7orf722

External Ids:    HGNC: 225641   Entrez Gene: 1001309882   Ensembl: ENSG000001645007   UniProtKB: A4D2633   

Export aliases for C7orf72 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 C7orf72 Gene:
C7orf72 (chromosome 7 open reading frame 72) is a protein-coding gene. Diseases associated with C7orf72 include crohn's disease, and systemic lupus erythematosus.


(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:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for C7orf72
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C7orf72

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C7orf72


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

Entrez Gene cytogenetic band: 7p12.2   Ensembl cytogenetic band:  7p12.2   HGNC cytogenetic band: 7p12.2

C7orf72 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7orf72 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P050108:  view genomic region     (about GC identifiers)

Start:
50,135,632 bp from pter      End:
50,199,426 bp from pter
Size:
63,795 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 50,172,871-50,236,064     

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CG072_HUMAN, A4D263 (See protein sequence)
Recommended Name: Uncharacterized protein C7orf72  
Size: 438 amino acids; 49672 Da
Secondary accessions: A6NDX9

Explore the universe of human proteins at neXtProt for C7orf72: NX_A4D263

Explore proteomics data for C7orf72 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C7orf72 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001155306.2  
    ENSEMBL proteins: 
     ENSP00000297001  

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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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    1 InterPro protein domain:
     IPR027867 DUF4540

    Graphical View of Domain Structure for InterPro Entry A4D263

    ProtoNet protein and cluster: A4D263


    C7orf72 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    C7orf72 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C7orf72:
     Increased G1 DNA content 

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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
    nucleus2
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    C7orf72 for ontologies           About GeneDecksing


    (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 C7orf72
    Interactions:

        Search GeneGlobe Interaction Network for C7orf72

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    C7orf72 for ontologies           About GeneDecksing



    (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 C7orf72 (CG072)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C7orf72 gene: 
    NM_001161834.2  

    Unigene Cluster for C7orf72:

    Chromosome 7 open reading frame 72
    Hs.99248  [show with all ESTs]
    Unigene Representative Sequence: NM_001161834
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000297001(uc011kcj.2)
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    1 DOTS entry:

    DT.99942179 

    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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: TGCAGTCTAC

    C7orf72 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C7orf72 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99248
        Custom PCR Arrays for C7orf72
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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 C7orf72 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4930415F15Rik1 , 5 RIKEN cDNA 4930415F15 gene1, 5 80.31(n)1
    74.5(a)1
      11 (6.93 cM)5
    738621  NM_028669.11  NP_082945.11 
     114620945 
    chicken
    (Gallus gallus)
    Aves C2H7orf721 chromosome 2 open reading frame, human C7orf72 62.89(n)
    52.06(a)
      100857655  XM_003640783.2  XP_003640831.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004910441 chromosome unknown open reading frame, human C7orf72 51.72(n)
    39.85(a)
      100491044  XM_002933408.2  XP_002933454.1 


    ENSEMBL Gene Tree for C7orf72 (if available)
    TreeFam Gene Tree for C7orf72 (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 C7orf72 (see all 1359)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs612068261,2
    C--50069599(+) AAAAA-/A/AA  
            
    TGTGG
    1 -- int11NA 2
    rs1861543091,2
    --50111778(+) TTTTTA/TAAACC 1 -- us2k10--------
    rs1470682731,2
    C--50111873(+) ATTTCC/GTAGTC 1 -- us2k10--------
    rs1382795991,2
    --50111926(+) TTTGAA/GAACTA 1 -- us2k10--------
    rs1899307551,2
    --50112030(+) TAAGTA/GCAAAG 1 -- us2k10--------
    rs1438743311,2
    --50112065(+) ACACAA/GCCTAA 1 -- us2k10--------
    rs1807358411,2
    --50112128(+) CTCTAC/TTTTTC 1 -- us2k10--------
    rs1472180731,2
    C--50112201(+) GGTTTA/GAATAC 1 -- us2k10--------
    rs1499349761,2
    C--50112213(+) TTGAA-/GAAT  
     GAAGTTT
    GAGCA
    1 -- us2k10--------
    rs1862176621,2
    --50112230(+) AGCAAC/TTAAAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C7orf72 (50135632 - 50199426 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for C7orf72:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1003850CNV Deletion20482838
    nsv830998CNV Loss17160897
    nsv830997CNV Gain17160897
    esv259459OTHER Complex20981092

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    4 diseases for C7orf72:    
    About MalaCards
    crohn's disease    systemic lupus erythematosus    lupus erythematosus    alzheimer's disease


    C7orf72 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C7orf72
    Human Genome Epidemiology (HuGE) Navigator: C7orf72 (1 document)

    Export disorders for C7orf72 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 C7orf72 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C7orf72)
        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. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    3. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    4. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PubMed id 21116278)4 Furney S.J.... . (Mol. Psychiatry 2011)
    5. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. (PubMed id 19838193)4 Han J.W....Zhang X.J. (Nat. Genet. 2009)
    6. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. (PubMed id 19668339)4 Potkin S.G....Macciardi F. (PLoS ONE 2009)
    7. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. (PubMed id 18587394)4 Barrett J.C....Daly M.J. (Nat. Genet. 2008)
    8. 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)

    (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: 100130988 HGNC: 22564 Ensembl:ENSG00000164500 euGenes: HUgn100130988 ECgene: C7orf72
    H-InvDB: C7orf72

    (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 C7orf72 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 C7orf72 gene:
    Search GeneIP for patents involving C7orf72

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf72
     Browse SwitchGear 3'UTR luciferase reporter plasmids for C7orf72
     Browse SwitchGear Promoter luciferase reporter plasmids for C7orf72
     Search ThermoFisher Antibodies for C7orf72
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C7orf72
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C7orf72
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C7orf72
     LSBio Antibodies in human, mouse, rat for C7orf72
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     Translational medicine
     Tissue-specific gene expresssion
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     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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