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CCDC73 Gene

protein-coding   GIFtS: 33
GCID: GC11M032623

Coiled-Coil Domain Containing 73

  See related disease
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
Coiled-Coil Domain Containing 731 2
Sarcoma Antigen NY-SAR-792 3
NY-SAR-792
Coiled-Coil Domain-Containing Protein 732

External Ids:    HGNC: 232611   Entrez Gene: 4938602   Ensembl: ENSG000001867147   OMIM: 6123285   UniProtKB: Q6ZRK63   

Export aliases for CCDC73 gene to outside databases

Previous GC identifers: GC11M032582 GC11M032318


(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 CCDC73 Gene:
CCDC73 (coiled-coil domain containing 73) is a protein-coding gene. Diseases associated with CCDC73 include sarcoma.


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC73 gene promoter:
         FOXO3   CUTL1   POU3F2   Gfi-1   FOXO3b   GATA-2   PPAR-gamma1   IRF-2   FOXO3a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC73 promoter sequence
   Search Chromatin IP Primers for CCDC73

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC73


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

Entrez Gene cytogenetic band: 11p13   Ensembl cytogenetic band:  11p13   HGNC cytogenetic band: 11p13

CCDC73 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC73 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M032623:  view genomic region     (about GC identifiers)

Start:
32,623,626 bp from pter      End:
32,816,204 bp from pter
Size:
192,579 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, 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: CCD73_HUMAN, Q6ZRK6 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 73  
Size: 1079 amino acids; 124154 Da
Sequence caution: Sequence=AAH62749.1; Type=Erroneous initiation; Sequence=AAO65175.1; Type=Frameshift;
Positions=Several; Sequence=BAC87304.1; Type=Erroneous initiation; Sequence=BAD18615.1; Type=Frameshift;
Positions=448;
Secondary accessions: Q6P5Q7 Q6ZMW0 Q86WE7
Alternative splicing: 2 isoforms:  Q6ZRK6-1   Q6ZRK6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC73: NX_Q6ZRK6

Explore proteomics data for CCDC73 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC73 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001008392.2  
    ENSEMBL proteins: 
     ENSP00000335325   ENSP00000434365   ENSP00000436440  

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    Cloud-Clone Corp. CLIAs for CCDC73


    (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: Q6ZRK6


    (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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC73
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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
    nucleus2
    cytosol1
    mitochondrion1

    (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 CCDC73
    Interactions:

        Search GeneGlobe Interaction Network for CCDC73

    (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 CCDC73 (CCD73)



    (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 CCDC73 gene: 
    NM_001008391.3  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335185(uc001mtv.3) ENST00000528333 ENST00000534415(uc001mtw.1)
    ENST00000531481(uc009yjt.3)
    miRNA
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    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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    CCDC73 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCDC73 Expression
    About this image


    CCDC73 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             XX Germ Cells Ovigerous Cord
     
     Gonad
             XX Germ Cells Ovigerous Cord
    CCDC73 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC73 Protein Expression
        Custom PCR Arrays for CCDC73
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC73

    (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 CCDC73 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc731 , 5 coiled-coil domain containing 731, 5 77.41(n)1
    62.92(a)1
      2 (55.00 cM)5
    2119361  NM_177600.41  NP_808268.21 
     1048678055 
    chicken
    (Gallus gallus)
    Aves CCDC736
    coiled-coil domain containing 73
    39(a)
    1 ↔ 1
    5(5551880-5601075) ENSGALG00000012103
    lizard
    (Anolis carolinensis)
    Reptilia CCDC736
    coiled-coil domain containing 73
    64(a)
    1 ↔ 1
    1(61294820-61372363)
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc736
    coiled-coil domain containing 73
    31(a)
    1 ↔ 1
    25(15599466-15625499) ENSDARG00000093805


    ENSEMBL Gene Tree for CCDC73 (if available)
    TreeFam Gene Tree for CCDC73 (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 CCDC73 (see all 3626)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2015523341,2
    Cuntested132674734(+) TTGCCG/AAAGTA 2 /R /W mis11Minor allele frequency- A:0.00EU 1323
    rs669558811,2
    C--32507624(-) GGGAT-/TGTG  
            
    TGTGT
    1 -- int11Minor allele frequency- TGTG:0.00NA 2
    rs1998477431,2
    C,F--32624547(+) TTGATA/TTCAGA 2 K I mis11Minor allele frequency- T:0.00EU 1323
    rs1899448241,2
    C--32624550(+) ATATCA/GGAGGC 2 P L mis10--------
    rs1821785071,2
    --32624615(+) AAGATC/TTTAAA 1 -- int10--------
    rs719936801,2
    C--32624691(+) TACCTTAG/-TAGTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs570166131,2
    C--32624692(+) TTAGT-/AGTTCTGG 1 -- int10--------
    rs1883927651,2
    --32624703(+) TCTGGC/GACCAG 1 -- int10--------
    rs1926681121,2
    --32624821(+) CTCCCA/GTGCTT 1 -- int10--------
    rs2001254281,2
    --32624875(+) TGGAA-/GTT   
       GGCAT
    GTTTT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for CCDC73 (32623626 - 32816204 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CCDC73 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744317CNV Deletion23290073
    esv2744318CNV Deletion23290073
    esv1483356CNV Deletion17803354
    esv2646311CNV Deletion19546169
    esv270137CNV Insertion20981092
    nsv832109CNV Gain17160897
    nsv897191CNV Gain21882294
    nsv897190CNV Gain21882294
    esv34742CNV Gain17911159
    nsv897189CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CCDC73
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC73

    (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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    OMIM gene information: 612328    OMIM disorders: --

    1 disease for CCDC73:    
    About MalaCards
    sarcoma


    CCDC73 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CCDC73
    Human Genome Epidemiology (HuGE) Navigator: CCDC73 (2 documents)

    Export disorders for CCDC73 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 CCDC73 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC73)
        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. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    3. Immunomic analysis of human sarcoma. (PubMed id 12601173)1, 2 Lee S.-Y.... Scanlan M.J. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 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. (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: 493860 HGNC: 23261 Ensembl:ENSG00000186714 euGenes: HUgn493860 ECgene: CCDC73
    H-InvDB: CCDC73

    (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 CCDC73 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 CCDC73 gene:
    Search GeneIP for patents involving CCDC73

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC73
     SwitchGear 3'UTR luciferase reporter plasmids for CCDC73
     SwitchGear Promoter luciferase reporter plasmids for CCDC73
     Search ThermoFisher Antibodies for CCDC73
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC73
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC73
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC73
     Search LSBio for Antibodies for CCDC73
    Customized transgenic rodents for:
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    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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