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CCDC170 Gene

protein-coding   GIFtS: 35
GCID: GC06P151815

Coiled-Coil Domain Containing 170

(Previous name: chromosome 6 open reading frame 97)
(Previous symbol: C6orf97)
  See CCDC170-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 1701 2
C6orf971 2 3
Chromosome 6 Open Reading Frame 971
bA282P11.12
Coiled-Coil Domain-Containing Protein 1702

External Ids:    HGNC: 211771   Entrez Gene: 801292   Ensembl: ENSG000001202627   UniProtKB: Q8IYT33   

Export aliases for CCDC170 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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Entrez Gene summary for CCDC170 Gene:
The function of this gene and its encoded protein is not known. Several genome-wide association studies have
implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to
this specific gene has been found. (provided by RefSeq, May 2010)

GeneCards Summary for CCDC170 Gene:
CCDC170 (coiled-coil domain containing 170) is a protein-coding gene. Diseases associated with CCDC170 include breast cancer.




(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_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CCDC170
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC170

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC170


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

Entrez Gene cytogenetic band: 6q25.1   Ensembl cytogenetic band:  6q25.1   HGNC cytogenetic band: 6q25.1

CCDC170 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC170 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P151815:  view genomic region     (about GC identifiers)

Start:
151,815,165 bp from pter      End:
151,942,328 bp from pter
Size:
127,164 bases      Orientation:
plus 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., 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: CC170_HUMAN, Q8IYT3 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 170  
Size: 715 amino acids; 82277 Da
Sequence caution: Sequence=BAB55025.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAH71980.1; Type=Erroneous gene model prediction; Sequence=CAI10943.1; Type=Erroneous gene model
prediction;
Secondary accessions: Q5VXB7 Q6P9E4 Q96KA9 Q9H5M3

Explore the universe of human proteins at neXtProt for CCDC170: NX_Q8IYT3

Explore proteomics data for CCDC170 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC170 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079335.2  
    ENSEMBL proteins: 
     ENSP00000239374   ENSP00000356259  

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    Search eBioscience for ELISAs for CCDC170 


    (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: Q8IYT3


    (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 CCDC170:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC170
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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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    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----

    Find genes that share ontologies with CCDC170           About GenesLikeMe


    (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 CCDC170
    Interactions:

        Search GeneGlobe Interaction Network for CCDC170

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process ----
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process ----

    Find genes that share ontologies with CCDC170           About GenesLikeMe



    (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 CCDC170 (CC170)



    (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 CCDC170 gene: 
    NM_025059.3  

    Unigene Cluster for CCDC170:

    Coiled-coil domain containing 170
    Hs.660044  [show with all ESTs]
    Unigene Representative Sequence: NM_025059
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000239374(uc003qol.3) ENST00000544131 ENST00000537358 ENST00000367290

    miRNA
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    Additional mRNA sequence: 

    AK026958.1 AK027300.1 AK225330.1 BC035003.2 BC060803.1 

    2 DOTS entries:

    DT.97821533  DT.95212949 

    Selected AceView cDNA sequences (see all 29):

    AI734267 W24471 BU944558 NM_025059 BX111077 BF980404 AI668688 BM677624 
    BC060803 AK027300 CB306458 BQ706948 AK026958 BQ710670 BC035003 BM984518 
    BI562667 BI520147 BM723093 CD358188 BU608138 CA450342 CD705709 N92293 

    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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    CCDC170 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATACAGTCC
    CCDC170 Expression
    About this image

    CCDC170 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC170 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.660044
        Custom PCR Arrays for CCDC170
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC170

    (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 animals.

    Orthologs for CCDC170 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1701 , 5 predicted gene 2215
    coiled-coil domain containing 1701
    78(n)1
    70.14(a)1
      10 (2.06 cM)5
    1005042341  NM_001195672.11  NP_001182601.11 
     44825025 
    chicken
    (Gallus gallus)
    Aves C6ORF971 chromosome 3 open reading frame, human C6orf97 64.44(n)
    55.62(a)
      421639  XM_004935628.1  XP_004935685.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1706
    coiled-coil domain containing 170
    52(a)
    1 ↔ 1
    GL343259.1(1185258-1283320)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ068976.12   -- 72.64(n)    BJ068976.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc1701 coiled-coil domain containing 170 52.37(n)
    37.9(a)
      791129  XM_003200311.2  XP_003200359.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG433381 CG43338 40.13(n)
    26.59(a)
      35117  NM_165257.1  NP_724119.1 


    ENSEMBL Gene Tree for CCDC170 (if available)
    TreeFam Gene Tree for CCDC170 (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 CCDC170 (see all 2971)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1926877341,2
    --149375261(+) GATTCC/TGGATT 1 -- us2k10--------
    rs170813211,2
    C,F--149375287(+) TTACCG/ATGAGC 1 -- us2k18Minor allele frequency- A:0.18NA CSA WA 382
    rs1848796451,2
    --149375359(+) TGATGA/GAATCC 1 -- us2k10--------
    rs1434073241,2
    --149375432(+) TCTGTC/TGCCCA 1 -- us2k10--------
    rs2019177951,2
    --149375518(+) TTCTT-/TCTTTTT 1 -- us2k10--------
    rs2016445111,2
    --149375519(+) TCTTT-/CTTTTT 1 -- us2k10--------
    rs69413651,2
    C--149375520(+) tctttC/Tttttt 1 -- us2k1 trp31Minor allele frequency- T:0.50NA 2
    rs1137892641,2
    C--149375524(+) TTTTTC/TTTTTT 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1462496061,2
    --149375678(+) CACCTA/CGCTAA 1 -- us2k10--------
    rs132055431,2
    C--149375820(+) ccccgC/Tcttag 1 -- us2k16Minor allele frequency- T:0.22NA CSA WA EA 364

    HapMap Linkage Disequilibrium report for CCDC170 (151815165 - 151942328 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CCDC170: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC170
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC170

    (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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    1 disease for CCDC170:    
    About MalaCards
    breast cancer


    Find genes that share disorders with CCDC170           About GenesLikeMe


    Export disorders for CCDC170 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 CCDC170 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with CCDC170)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    4. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. (PubMed id 23535729)1 Michailidou K....Easton D.F. (Nat. Genet. 2013)
    5. Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure. (PubMed id 23437003)1 Paternoster L....Ohlsson C. (PLoS Genet. 2013)
    6. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (PubMed id 22504420)1 Estrada K....Rivadeneira F. (Nat. Genet. 2012)
    7. A cohesin-RAD21 interactome. (PubMed id 22145905)1 Panigrahi A.K....Pati D. (Biochem. J. 2012)
    8. Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. (PubMed id 21263130)1 Fletcher O....Peto J. (J. Natl. Cancer Inst. 2011)
    9. A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia. (PubMed id 21540461)1 Kim D.H....Lipton J.H. (Blood 2011)
    10. Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. (PubMed id 20200978)1 Ichikawa S....Econs M.J. (J. Bone Miner. Res. 2010)

    (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: 80129 HGNC: 21177 AceView: C6orf97 Ensembl:ENSG00000120262 euGenes: HUgn80129
    ECgene: CCDC170 H-InvDB: CCDC170

    (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 CCDC170 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 CCDC170 gene:
    Search GeneIP for patents involving CCDC170

    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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