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

CCDC125 Gene

protein-coding   GIFtS: 38
GCID: GC05M068576

Coiled-Coil Domain Containing 125

  Search for CCDC125
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
Coiled-Coil Domain Containing 1251 2
KENAE2 3
Kenae2
Coiled-Coil Domain-Containing Protein 1252
Protein Kenae3

External Ids:    HGNC: 289241   Entrez Gene: 2022432   Ensembl: ENSG000001833237   OMIM: 6137815   UniProtKB: Q86Z203   

Export aliases for CCDC125 gene to outside databases

Previous GC identifers: GC05M068613 GC05M065532


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

GeneCards Summary for CCDC125 Gene: 
CCDC125 (coiled-coil domain containing 125) is a protein-coding gene.

UniProtKB/Swiss-Prot: CC125_HUMAN, Q86Z20
Function: May be involved in the regulation of cell migration




(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_000005.9  NT_006713.15  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC125 gene promoter:
         AP-1   Pax-5   GCNF   POU6F1 (c2)   N-Myc   Max   GCNF-1   SEF-1 (1)   GCNF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC125 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC125

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC125


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

Entrez Gene cytogenetic band: 5q13.2   Ensembl cytogenetic band:  5q13.2   HGNC cytogenetic band: 5q13.2

CCDC125 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC125 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M068576:  view genomic region     (about GC identifiers)

Start:
68,576,002 bp from pter      End:
68,628,636 bp from pter
Size:
52,635 bases      Orientation:
minus strand

1 alternative location:
Chr5-,NW_003315917.2 63,867-103,703     

(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: CC125_HUMAN, Q86Z20 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 125  
Size: 511 amino acids; 58629 Da
Subcellular location: Cytoplasm
Secondary accessions: Q86Z19
Alternative splicing: 2 isoforms:  Q86Z20-1   Q86Z20-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC125: NX_Q86Z20

Explore proteomics data for CCDC125 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86Z20

  • CCDC125 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC125 Protein Expression
    REFSEQ proteins: NP_789786.2  
    ENSEMBL proteins: 
     ENSP00000379754   ENSP00000372865   ENSP00000426795   ENSP00000379756  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0045111intermediate filament cytoskeleton IDA--

    CCDC125 for ontologies           About GeneDecksing



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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: Q86Z20


    (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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CC125_HUMAN, Q86Z20
    Function: May be involved in the regulation of cell migration

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CCDC125 
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    SwitchGear 3'UTR luciferase reporter plasmidCCDC125 3' UTR sequence
    Inhib. RNA
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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 CCDC125

    (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 CCDC125 (CC125)

    Search CenterWatch for drugs/clinical trials and news about CCDC125 / CC125

    (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 CCDC125 gene: 
    NM_176816.3  

    Unigene Cluster for CCDC125:

    Coiled-coil domain containing 125
    Hs.654850  [show with all ESTs]
    Unigene Representative Sequence: AL832658
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396496(uc003jvv.1 uc003jvx.1 uc003jvy.1 uc003jvw.2)
    ENST00000460090 ENST00000383374 ENST00000511257 ENST00000512045(uc003jvz.1)
    ENST00000513172 ENST00000396499
    miRNA
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    hsa-miR-577 hsa-miR-514b-5p hsa-miR-513c hsa-miR-4282 hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidCCDC125 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC125
    Sirion Biotech Customized lentivirus for stable overexpression of CCDC125 
                         Customized lentivirus expression plasmids for stable overexpression of CCDC125 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC125
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC125

    Additional mRNA sequence: 

    AK299871.1 AL832658.1 BC108715.1 BC113749.1 

    6 DOTS entries:

    DT.201387  DT.40222493  DT.116075  DT.120885213  DT.95256656  DT.100729826 

    24/55 AceView cDNA sequences (see all 55):

    BG112703 AA355506 AA460983 BQ030347 AI141520 CA444087 BU607734 BX115747 
    AA355499 T08579 AI763308 AA461094 BE857461 BQ015786 CB163364 AL832658 
    NM_176816 BF195452 BE901916 AI287798 BQ923745 AA687253 AB024691 BM827614 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC125    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                    -                                                         
    SP2:                    -                                                         
    SP3:                                                                              
    SP4:              -     -                                                         


    ECgene alternative splicing isoforms for CCDC125

    (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

    CCDC125 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTGACAAA
    CCDC125 Expression
    About this image


    See CCDC125 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC125

    SOURCE GeneReport for Unigene cluster: Hs.654850
        SABiosciences Custom PCR Arrays for CCDC125
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC125
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC125

    (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 chordates.

    Orthologs for CCDC125 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1251 , 5 coiled-coil domain containing 1251, 5 79.52(n)1
    73.9(a)1
      13 (53.23 cM)5
    760411  NM_183115.51  NP_898938.41 
     1006694815 
    chicken
    (Gallus gallus)
    Aves CCDC1251 coiled-coil domain containing 125 65.83(n)
    57.56(a)
      427313  XM_424893.3  XP_424893.3 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1256
    Uncharacterized protein
    51(a)
    1 ↔ 1
    2(17068268-17085954)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480590482   -- 87.21(n)    48059048 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc1251 coiled-coil domain containing 125 53.89(n)
    48.79(a)
      565477  NM_001098182.1  NP_001091652.1 


    ENSEMBL Gene Tree for CCDC125 (if available)
    TreeFam Gene Tree for CCDC125 (if available)

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

    (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

    10/882 SNPs in CCDC125 are shown (see all 882)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1431939001,2
    --68576151(+) ACATGA/GTAATA 1 -- int10--------
    rs1883449441,2
    --68576226(+) ATTAAC/TAGCTA 1 -- int10--------
    rs746713821,2
    C--68576297(+) ATAATA/CATGCA 1 -- int10--------
    rs772952901,2
    C--68576319(+) AAGGGA/GGTTTC 1 -- int10--------
    rs1921875571,2
    --68576369(+) CGGCCC/TTGAAT 1 -- int10--------
    rs1165707971,2
    C,F--68576378(+) ATTCTC/TTCTCT 1 -- int11Minor allele frequency- T:0.02NA 120
    rs744273931,2
    C,F--68576525(+) GTCAAC/TACATG 1 -- ut311Minor allele frequency- T:0.08EA 120
    rs1475464031,2
    --68576561(+) TCTTAC/TGGATC 1 -- ut310--------
    rs1481660981,2
    C--68576622(+) AACTTC/TTGTAT 1 -- ut310--------
    rs1419741751,2
    --68577060(+) GTTTAC/TGCCTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CCDC125 (68576002 - 68628636 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CCDC125:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv821643CNV Loss15273396

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC125
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC125

    (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

    CCDC125 for disorders           About MalaCards
    OMIM gene information: 613781    OMIM disorders: --


    CCDC125 for disorders           About GeneDecksing


    Export disorders for CCDC125 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 CCDC125 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CCDC125)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Role of Kenae/CCDC125 in cell motility through the de regulation of RhoGTPase. (PubMed id 19787194)1, 2 Araya N....Nakajima T. (2009)
    2. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    3. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    4. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (2004)
    5. 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: 202243 HGNC: 28924 AceView: KENAE Ensembl:ENSG00000183323 euGenes: HUgn202243
    ECgene: CCDC125 H-InvDB: CCDC125

    (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 CCDC125 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 CCDC125 gene:
    Search GeneIP for patents involving CCDC125

    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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