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

CCDC104 Gene

protein-coding   GIFtS: 41
GCID: GC02P055746

coiled-coil domain containing 104

 Explore 2 diseases affiliated with
CCDC104 via our new
 Human Malady Compendium 
Biological research products
for CCDC104
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Coiled-Coil Domain Containing 1041 2
MGC154071
Coiled-Coil Domain-Containing Protein 1042

External Ids:    HGNC: 305401   Entrez Gene: 1129422   Ensembl: ENSG000001630017   UniProtKB: Q96G283   

Export aliases for CCDC104 gene to outside databases

Previous GC identifers: GC02P055600 GC02P055481


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

UniProtKB/Swiss-Prot: CC104_HUMAN, Q96G28
Function: May act as an effector for ARL3




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC104 gene promoter:
         TBP   Nkx2-2   HNF-3beta   GATA-1   IRF-2   POU2F1   TFIID   POU2F1a   Cart-1   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC104 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC104

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC104


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

Entrez Gene cytogenetic band: 2p16.1   Ensembl cytogenetic band:  2p16.1   HGNC cytogenetic band: 2p16.1

CCDC104 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC104 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P055746:  view genomic region     (about GC identifiers)

Start:
55,746,740 bp from pter      End:
55,773,015 bp from pter
Size:
26,276 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CC104_HUMAN, Q96G28 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 104  
Size: 342 amino acids; 39447 Da
Subunit: Interacts with ARL3
Secondary accessions: Q53SF0 Q53ST9 Q6UY34
Alternative splicing: 2 isoforms:  Q96G28-1   Q96G28-2   

Explore the universe of human proteins at neXtProt for CCDC104: NX_Q96G28

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96G28

  • CCDC104 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_542398.3  
    ENSEMBL proteins: 
     ENSP00000342699   ENSP00000385400   ENSP00000295117   ENSP00000385376   ENSP00000385972  

    Human Recombinant Protein Products: 
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    Uscn Proteins for CCDC104


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    Uscn ELISAs and CLIAs for CCDC104


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CCDC104 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR023379 ARF-like_2-bdp_dom

    Graphical View of Domain Structure for InterPro Entry Q96G28

    ProtoNet protein and cluster: Q96G28


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CC104_HUMAN, Q96G28
    Function: May act as an effector for ARL3

    miRNA
    Products:
        
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCDC104
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CCDC104:
    hsa-miR-32*
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC104 (see all 7)
    OriGene shRNA RFP: CCDC104
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    Clone
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC104

    Animal Models:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ccdc104):
     immune system  pigmentation  vision/eye 

    CCDC104 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCDC104

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for CCDC104 (Q96G283 ENSP000002951174) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FCHSD2O948683, ENSP000003867224I2D: score=1 STRING: ENSP00000386722
    RAC1P630003, ENSP000003484614I2D: score=3 STRING: ENSP00000348461
    NXF1Q9UBU93I2D: score=5 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 CCDC104
    Search CenterWatch for drugs/clinical trials and news about CCDC104 / CC104 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CCDC104 gene: 
    NM_080667.5  

    Unigene Cluster for CCDC104:

    Coiled-coil domain containing 104
    Hs.264208  [show with all ESTs]
    Unigene Representative Sequence: BC001797
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339012(uc002ryy.2 uc002ryx.2) ENST00000406691 ENST00000349456
    ENST00000407816 ENST00000403007 ENST00000490934 ENST00000481791

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: CCDC104
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCDC104
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CCDC104:
    hsa-miR-32*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC104 (see all 7)
    OriGene shRNA RFP: CCDC104
    OriGene siRNA: CCDC104
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC104
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC104 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC104
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    GenScript: all cDNA clones in your preferred vector: CCDC104 (NM_080667)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC104
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC104 
    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCDC104
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CCDC104
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC104
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC104

    Additional cDNA sequence: 

    AK308776.1 AK309764.1 AY358097.1 BC001797.1 BC010011.2 

    11 DOTS entries:

    DT.316231  DT.101983509  DT.409799  DT.95173244  DT.120932328  DT.120932325  DT.120932334  DT.316228 
    DT.40109871  DT.95083944  DT.95229822 

    24/247 AceView cDNA sequences (see all 247):

    BP368977 BM693493 AI990324 BQ953586 CB131628 AA582770 Z41123 AI923580 
    BM692696 CA391118 AA278518 BQ957092 BM789335 AI473913 BM668829 BQ638735 
    BM972955 AA282305 BG055341 BU728052 BU552564 CR612291 AI611260 AA587822 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC104 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12
    SP1:                                      -           -     -                 -                                 
    SP2:                    -                 -           -     -                 -                                 
    SP3:                                                                          -                                 
    SP4:                                      -           -     -                                                   
    SP5:                    -                                                                                       


    ECgene alternative splicing isoforms for CCDC104

    (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

    CCDC104 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGAAAGGATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CCDC104 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC104

    SOURCE GeneReport for Unigene cluster: Hs.264208
        SABiosciences Custom PCR Arrays for CCDC104
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCDC104
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC104
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC104

    (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 CCDC104 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1041 , 5 coiled-coil domain containing 1041, 5 88.5(n)1
    90.94(a)1
      11 (16.46 cM)5
    2166181  NM_025740.31  NP_080016.11 
     292215325 
    chicken
    (Gallus gallus)
    Aves CCDC1041 coiled-coil domain containing 104 66.27(n)
    58.56(a)
      421209  NM_001199423.1  NP_001186352.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1046
    --
    83(a)
    1 ↔ 1
    1(256004909-256012925)
    African clawed frog
    (Xenopus laevis)
    Amphibia mgc15407-prov2 hypothetical protein MGC69019 75.65(n)    BC056056.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc1041 coiled-coil domain containing 104 51.54(n)
    45.68(a)
      678564  NM_001040322.1  NP_001035412.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG143671 CG14367 45.13(n)
    35.02(a)
      41676  NM_142048.1  NP_650305.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y108G3AL.31 Protein Y108G3AL.3 40.95(n)
    27.71(a)
      190931  NM_070746.3  NP_503147.1 


    ENSEMBL Gene Tree for CCDC104 (if available)
    TreeFam Gene Tree for CCDC104 (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, UniProtKB, 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

    10/529 NCBI SNPs in CCDC104 are shown (see all 529    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs728035061,2
    --55744777(+) GGCTAC/TTAACA 1 -- us2k10--------
    rs1476411301,2
    --55744794(+) AACCCC/TGTCTG 1 -- us2k10--------
    rs2010190911,2
    --55744975(+) AAAAA-/TAATAA 1 -- us2k10--------
    rs130090491,2
    C,--55744978(+) AAAAAT/AAATAA 1 -- us2k1 tfbs34Minor allele frequency- A:0.14NA WA 126
    rs2020983801,2
    --55744978(+) AAAAA-/TAATAA 1 -- us2k10--------
    rs1147202951,2
    C,--55745090(+) CACAAC/TTGTTT 1 -- us2k10--------
    rs1908469991,2
    --55745190(+) CTGGAA/TTCTAT 1 -- us2k10--------
    rs1832730921,2
    --55745232(+) TCAGGA/CTGCAA 1 -- us2k10--------
    rs1877294351,2
    --55745384(+) CCTGAA/GGTCAG 1 -- us2k10--------
    rs1501309311,2
    --55745387(+) GAGGTA/CAGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CCDC104 (55746740 - 55773015 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CCDC104
         1 CNV: 3357

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCDC104
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    (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.)
    About This Section

    CCDC104 for disorders           About GeneDecksing

    2 diseases for CCDC104:    About MalaCards
    pancreatic cancer    pancreatitis


    Export disorders for CCDC104 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 CCDC104 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with CCDC104)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    3. 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)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (PubMed id 22085962)2 Wright K.J.... Jackson P.K. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)
    10. Global analysis of lysine ubiquitination by ubiquitin remnant immunoaffinity profiling. (PubMed id 20639865)1 Xu G....Jaffrey S.R. (2010)

    (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: 112942 HGNC: 30540 AceView: MGC15407 Ensembl:ENSG00000163001 euGenes: HUgn112942
    ECgene: CCDC104 H-InvDB: CCDC104

    (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 CCDC104 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 CCDC104 gene:
    Search GeneIP for patents involving CCDC104

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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