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

C16orf72 Gene

protein-coding   GIFtS: 44
GCID: GC16P009185

Chromosome 16 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)
About This Section

Aliases
Chromosome 16 Open Reading Frame 721 2
PRO01492
UPF0472 Protein C16orf722

External Ids:    HGNC: 301031   Entrez Gene: 290352   Ensembl: ENSG000001828317   UniProtKB: Q14CZ03   

Export aliases for C16orf72 gene to outside databases

Previous GC identifers: GC16P009094 GC16P009106


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

GeneCards Summary for C16orf72 Gene: 
C16orf72 (chromosome 16 open reading frame 72) is a protein-coding gene. Diseases associated with C16orf72 include schizoaffective disorder, and williams-beuren syndrome.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C16orf72 gene promoter:
         STAT5B   STAT1   ATF-2   Lmo2   XBP-1   CREB   deltaCREB   c-Myb   NF-kappaB1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC16orf72 promoter sequence
   Search SABiosciences Chromatin IP Primers for C16orf72

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C16orf72


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

Entrez Gene cytogenetic band: 16p13.2   Ensembl cytogenetic band:  16p13.2   HGNC cytogenetic band: 16p13.2

C16orf72 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C16orf72 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P009185:  view genomic region     (about GC identifiers)

Start:
9,185,505 bp from pter      End:
9,215,497 bp from pter
Size:
29,993 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CP072_HUMAN, Q14CZ0 (See protein sequence)
Recommended Name: UPF0472 protein C16orf72  
Size: 275 amino acids; 30926 Da

Explore the universe of human proteins at neXtProt for C16orf72: NX_Q14CZ0

Explore proteomics data for C16orf72 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14CZ0

  • C16orf72 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C16orf72 Protein Expression
    REFSEQ proteins: NP_054836.2  
    ENSEMBL proteins: 
     ENSP00000331720  

    Human Recombinant Protein Products for C16orf72: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q14CZ0

    UniProtKB/Swiss-Prot: CP072_HUMAN, Q14CZ0
    Similarity: Belongs to the UPF0472 family


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         3 GenomeRNAi human phenotypes for C16orf72:
     Increased S DNA content  Increased circadian period len  Increased number of mitotic ce 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidC16orf72 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C16orf72

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C16orf72 (ENSP000003317204) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 C16orf72 (CP072)

    Search CenterWatch for drugs/clinical trials and news about C16orf72 / CP072

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C16orf72 gene: 
    NM_014117.2  

    Unigene Cluster for C16orf72:

    Chromosome 16 open reading frame 72
    Hs.221497  [show with all ESTs]
    Unigene Representative Sequence: NM_014117
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000327827(uc002czm.3)
    miRNA
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    hsa-miR-124* hsa-miR-520e hsa-miR-106a hsa-miR-15a hsa-miR-3653 hsa-miR-550a* hsa-miR-208b hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidC16orf72 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C16orf72
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C16orf72
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                         Customized lentivirus expression plasmids for stable overexpression of C16orf72 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C16orf72

    Additional mRNA sequence: 

    AK123266.1 BC029878.1 BC113570.1 

    9 DOTS entries:

    DT.100778406  DT.86847523  DT.97814012  DT.120655190  DT.454573  DT.91766604  DT.97794124  DT.91766608 
    DT.95277839 

    24/489 AceView cDNA sequences (see all 489):

    AW440749 AA393428 CB959956 AA376312 AI364644 AA424262 CA307404 AI002331 
    BM967198 BF109763 BM967267 AK123266 CR613493 CK819000 AA421582 BF196864 
    AW594010 CA422681 AA326856 AI360979 BE328163 BF477717 BF593834 F13087 

    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™, 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

    C16orf72 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTTTGGAGT
    C16orf72 Expression
    About this image


    See C16orf72 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C16orf72

    SOURCE GeneReport for Unigene cluster: Hs.221497
        SABiosciences Custom PCR Arrays for C16orf72
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C16orf72
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C16orf72

    (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

    This gene was present in the common ancestor of animals.

    Orthologs for C16orf72 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1810013L24Rik1 , 5 RIKEN cDNA 1810013L24 gene1, 5 97.09(n)1
    98.55(a)1
      16 (4.37 cM)5
    690531  NM_001081400.31  NP_001074869.11 
     88301005 
    chicken
    (Gallus gallus)
    Aves LOC4166391 UPF0472 protein C16orf72 homolog 88.77(n)
    92.31(a)
      416639  XM_003642108.1  XP_003642156.1 
    lizard
    (Anolis carolinensis)
    Reptilia C16ORF726
    Uncharacterized protein
    82(a)
    1 ↔ 1
    GL343263.1(1849568-1865818)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685532 hypothetical protein MGC68553 83.26(n)    BC060006.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb59e092 wufb59e09 74.8(n)   322387  BC050493.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG47686
    --
    31(a)
    1 ↔ 1
    X(16686154-16690789)


    ENSEMBL Gene Tree for C16orf72 (if available)
    TreeFam Gene Tree for C16orf72 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C16orf72 gene

    C16orf72 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C16orf72
    PGOHUM00000242048


    (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) 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

    10/812 SNPs in C16orf72 are shown (see all 812)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1507111571,2
    --9183661(+) CAAGTC/TATTTC 1 -- us2k10--------
    rs1149302371,2
    C,F--9183748(+) CTACAA/GTTGGA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs127087761,2
    C,F,A--9183770(+) TAGCCG/ACCGCG 1 -- us2k112Minor allele frequency- A:0.32NA WA CSA EA 374
    rs1923411341,2
    --9183854(+) GAAGGA/GTGCTA 1 -- us2k10--------
    rs121489201,2
    C,F,A,H--9183900(+) GCTATC/GTGAGG 1 -- us2k122Minor allele frequency- G:0.33NS EA NA WA CSA 2046
    rs579752071,2
    C,F--9183937(+) GATAGC/TAGACT 1 -- us2k13Minor allele frequency- T:0.21CSA WA 122
    rs727699511,2
    --9183942(+) CAGACC/TGGGGC 1 -- us2k10--------
    rs1835312271,2
    --9184045(+) CCAAGC/TAGGGG 1 -- us2k10--------
    rs1133371291,2
    C,F--9184496(+) AGGTGC/TGGGGG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs129226621,2
    C,F--9184729(+) TGGGCC/GGGGCG 1 -- us2k15Minor allele frequency- G:0.09NA WA EA 362

    HapMap Linkage Disequilibrium report for C16orf72 (9185505 - 9215497 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for C16orf72:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv525864CNV Loss19592680
    nsv457400CNV Gain19166990
    nsv519065CNV Gain19592680
    nsv457401CNV Gain19166990
    dgv2600n71CNV Gain21882294
    nsv457402CNV Gain19166990

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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.)
    About This Section
    2 diseases for C16orf72:    About MalaCards
    schizoaffective disorder    williams-beuren syndrome

    2 diseases from the University of Copenhagen DISEASES database for C16orf72:
    Williams-Beuren syndrome     Schizoaffective disorder

    C16orf72 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C16orf72
    Human Genome Epidemiology (HuGE) Navigator: C16orf72 (1 document)

    Export disorders for C16orf72 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)
    About This Section

    PubMed articles for C16orf72 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C16orf72)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1, 3 Bonaldo M.F.... Soares M.B. (1996)
    2. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    3. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    6. 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)

    (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: 29035 HGNC: 30103 AceView: PRO0149 Ensembl:ENSG00000182831 euGenes: HUgn29035
    ECgene: C16orf72 H-InvDB: C16orf72

    (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 C16orf72 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 C16orf72 gene:
    Search GeneIP for patents involving C16orf72

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
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