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

CCDC124 Gene

protein-coding   GIFtS: 43
GCID: GC19P018043

Coiled-Coil Domain Containing 124

  Search for CCDC124
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 1241 2
Coiled-Coil Domain-Containing Protein 1242

External Ids:    HGNC: 251711   Entrez Gene: 1150982   Ensembl: ENSG000000070807   UniProtKB: Q96CT73   

Export aliases for CCDC124 gene to outside databases

Previous GC identifers: GC19P017911 GC19P017608


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

GeneCards Summary for CCDC124 Gene: 
CCDC124 (coiled-coil domain containing 124) is a protein-coding gene.


(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_000019.9  NC_018930.2  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC124 gene promoter:
         SEF-1 (1)   MIF-1   AP-4   YY1   Egr-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC124 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC124

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC124


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

CCDC124 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC124 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P018043:  view genomic region     (about GC identifiers)

Start:
18,043,824 bp from pter      End:
18,054,800 bp from pter
Size:
10,977 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: CC124_HUMAN, Q96CT7 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 124  
Size: 223 amino acids; 25835 Da

Explore the universe of human proteins at neXtProt for CCDC124: NX_Q96CT7

Explore proteomics data for CCDC124 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96CT7

  • CCDC124 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC124 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001129675.1  NP_612451.1  

    ENSEMBL proteins: 
     ENSP00000408730   ENSP00000471455   ENSP00000472520  

    Human Recombinant Protein Products for CCDC124: 
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    Cloud-Clone Corp. Proteins for CCDC124 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0030496midbody IEA--

    CCDC124 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for CCDC124


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR010422 DUF1014
     IPR009071 HMG_box_dom

    Graphical View of Domain Structure for InterPro Entry Q96CT7

    ProtoNet protein and cluster: Q96CT7

    UniProtKB/Swiss-Prot: CC124_HUMAN, Q96CT7
    Similarity: Belongs to the CCDC124 family


    CCDC124 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,
    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:
         1 GenomeRNAi human phenotype for CCDC124:
     Low eccentricity cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CCDC124 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CCDC124

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC124


    (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 CCDC124

    4 Interacting proteins for CCDC124 (Q96CT73) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF2AK2P195253I2D: score=1 
    MAPK3P273613I2D: score=1 
    PRKAA1Q131313I2D: score=1 
    STK11Q158313I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007049cell cycle IEA--
    GO:0051301cell division IEA--

    CCDC124 for ontologies           About GeneDecksing



    (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 CCDC124 (CC124)

    Search CenterWatch for drugs/clinical trials and news about CCDC124 / CC124

    (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 CCDC124 gene (2 alternative transcripts): 
    NM_001136203.1  NM_138442.3  

    Unigene Cluster for CCDC124:

    Coiled-coil domain containing 124
    Hs.100043  [show with all ESTs]
    Unigene Representative Sequence: BM554853
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000445755(uc010xpz.2 uc002nhs.3) ENST00000602080 ENST00000597436
    ENST00000596123
    miRNA
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    Inhib. RNA
    Products:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC124
    Clone
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    OriGene clones in human, mouse for CCDC124 (see all 14)
    OriGene ORF clones in mouse, rat for CCDC124
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC124 (NM_138442)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC124
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC124
    Sirion Biotech Customized lentivirus for stable overexpression of CCDC124 
                         Customized lentivirus expression plasmids for stable overexpression of CCDC124 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC124
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC124

    Additional mRNA sequence: 

    AF086307.1 BC013949.2 

    4 DOTS entries:

    DT.413681  DT.121488116  DT.86847476  DT.40307570 

    24/221 AceView cDNA sequences (see all 221):

    BQ883540 BE733893 BQ071416 BM679372 BF433672 BE646100 BQ671436 BQ674965 
    BQ926578 BM714338 BF513247 BE047676 BM915698 BM681523 AW103173 BM554613 
    BQ637953 BF513196 BQ684054 BQ229154 BU156886 BM720670 AA896971 BU526645 

    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

    CCDC124 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTTATCAC
    CCDC124 Expression
    About this image


    See CCDC124 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC124

    SOURCE GeneReport for Unigene cluster: Hs.100043
        SABiosciences Custom PCR Arrays for CCDC124
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC124

    (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 eukaryotes.

    Orthologs for CCDC124 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1241 , 5 coiled-coil domain containing 1241, 5 84.33(n)1
    90.32(a)1
      8 (34.33 cM)5
    2343881  NM_026964.31  NP_081240.11 
     708682275 
    chicken
    (Gallus gallus)
    Aves CCDC1241 coiled-coil domain containing 124 76.92(n)
    82.81(a)
      427087  XM_424681.3  XP_424681.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.35322 Xenopus laevis transcribed sequence with weak similarity more 78.42(n)    CD361620.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC056579.12   -- 76.5(n)   393537  BC056579.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60131 CG6013 56.09(n)
    45.19(a)
      42286  NM_142520.3  NP_650777.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y73E7A.11 Protein Y73E7A.1 55.45(n)
    54.21(a)
      171725  NM_001047247.1  NP_001040712.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G162101 hypothetical protein 49.69(n)
    35.51(a)
      838189  NM_101487.4  NP_563993.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g05616001 hypothetical protein 55.92(n)
    43.6(a)
      4336658  NM_001060088.1  NP_001053553.1 


    ENSEMBL Gene Tree for CCDC124 (if available)
    TreeFam Gene Tree for CCDC124 (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

    10/306 SNPs in CCDC124 are shown (see all 306)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs104139191,2
    C,F,A--18041925(+) gaactC/Actcac 1 -- us2k17Minor allele frequency- A:0.40NA WA CSA EA 249
    rs1503783821,2
    --18041966(+) GTGCTG/TGGATT 1 -- us2k10--------
    rs1851808841,2
    --18042078(+) ATCTCA/GGCTCA 1 -- us2k10--------
    rs1899131211,2
    --18042268(+) CCTCCC/TAAAGT 1 -- us2k10--------
    rs1929812601,2
    --18042342(+) TTCACC/GCAGGC 1 -- us2k10--------
    rs360740061,2
    C,F--18042412(+) TGATTC/TTCTTG 1 -- us2k18Minor allele frequency- T:0.29NA WA EA 368
    rs560875301,2
    C,F--18042432(+) ATGAGC/GATGCC 1 -- us2k18Minor allele frequency- G:0.30NA WA CSA EA 367
    rs1154589831,2
    F--18042524(+) CAAGCG/TATCCT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs118806851,2
    C,F,A,H--18042569(+) GCATGA/TGCCAC 1 -- us2k112Minor allele frequency- T:0.26NA WA CSA EA 380
    rs1380611001,2
    --18042581(+) GCGACA/CAGCCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CCDC124 (18043824 - 18054800 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CCDC124:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2232366CNV Deletion18987734
    esv2667655CNV Deletion23128226
    dgv3767n71CNV Loss21882294
    nsv470130CNV Loss18288195
    nsv911214CNV Loss21882294
    nsv911226CNV Loss21882294
    nsv911227CNV Loss21882294
    nsv833772CNV Gain+Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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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
      --

    (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 CCDC124 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CCDC124)
        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. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    4. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)

    (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: 115098 HGNC: 25171 AceView: LOC115098 Ensembl:ENSG00000007080 euGenes: HUgn115098
    ECgene: CCDC124 H-InvDB: CCDC124

    (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 CCDC124 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 CCDC124 gene:
    Search GeneIP for patents involving CCDC124

    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)
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