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

CCDC134 Gene

protein-coding   GIFtS: 46
GCID: GC22P042196

coiled-coil domain containing 134

 Explore 1 disease affiliated with
CCDC134 via our new
 Human Malady Compendium 
Biological research products
for CCDC134
    

(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 1341 2
FLJ223491
Coiled-Coil Domain-Containing Protein 1342
DJ821D11.31

External Ids:    HGNC: 261851   Entrez Gene: 798792   Ensembl: ENSG000001001477   UniProtKB: Q9H6E43   

Export aliases for CCDC134 gene to outside databases

Previous GC identifers: GC22P040526 GC22P025162


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

  --

(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_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC134 gene promoter:
         GR   E2F-4   E2F-3a   C/EBPbeta   E2F-5   E2F-2   N-Myc   E2F   E2F-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC134 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC134

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC134


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

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

CCDC134 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC134 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P042196:  view genomic region     (about GC identifiers)

Start:
42,196,678 bp from pter      End:
42,222,306 bp from pter
Size:
25,629 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: CC134_HUMAN, Q9H6E4 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 134 precursor  
Size: 229 amino acids; 26561 Da
Subcellular location: Secreted (Potential)

Explore the universe of human proteins at neXtProt for CCDC134: NX_Q9H6E4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H6E4

  • CCDC134 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079097.1  
    ENSEMBL proteins: 
     ENSP00000385803   ENSP00000255784   ENSP00000394641  

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    Uscn Proteins for CCDC134

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--


    CCDC134 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CCDC134


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

    CCDC134 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026321 Coiled-coil_dom_con_pro_134

    Graphical View of Domain Structure for InterPro Entry Q9H6E4

    ProtoNet protein and cluster: Q9H6E4

    UniProtKB/Swiss-Prot: CC134_HUMAN, Q9H6E4
    Similarity: Belongs to the UPF0388 family


    (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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCDC134
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    hsa-miR-3678-3p hsa-miR-1233 hsa-miR-1184 hsa-miR-593 hsa-miR-3119 hsa-miR-3649 hsa-miR-128 hsa-miR-3681*
    SwitchGear 3'UTR luciferase reporter plasmidCCDC134 3' UTR sequence
    Inhib. RNA
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    1 GenomeRNAi human phenotype for CCDC134:
     Decreased p24 protein expressi 

    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ccdc134):
     mortality/aging 

    CCDC134 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 CCDC134

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for CCDC134 (Q9H6E42, 3 ENSP000002557844) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2876528 I2D: score=3 STRING: ENSP00000357292
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: 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 CCDC134
    Search CenterWatch for drugs/clinical trials and news about CCDC134 / CC134 

    (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 CCDC134 gene: 
    NM_024821.2  

    Unigene Cluster for CCDC134:

    Coiled-coil domain containing 134
    Hs.474991  [show with all ESTs]
    Unigene Representative Sequence: BC017693
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000402061 ENST00000255784(uc003bbh.1 uc011apg.1) ENST00000429249


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    hsa-miR-3678-3p hsa-miR-1233 hsa-miR-1184 hsa-miR-593 hsa-miR-3119 hsa-miR-3649 hsa-miR-128 hsa-miR-3681*
    SwitchGear 3'UTR luciferase reporter plasmidCCDC134 3' UTR sequence
    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC134
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC134

    Additional cDNA sequence: 

    AK026002.1 AK299311.1 BC017693.2 CR456484.1 

    2 DOTS entries:

    DT.97779162  DT.120645995 

    24/38 AceView cDNA sequences (see all 38):

    BC017693 BQ227811 AW297211 BM674759 CR456484 CB130635 BE907421 AI520706 
    AK026002 CB240942 BM982350 BX282466 BM046831 BQ919118 BQ437788 CA428472 
    BQ711220 NM_024821 BQ923086 AA476827 CF142800 BX473493 BU615489 CA426819 

    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

    CCDC134 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCAAGGGGC

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

    About this image
    See CCDC134 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC134

    SOURCE GeneReport for Unigene cluster: Hs.474991
        SABiosciences Custom PCR Arrays for CCDC134
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC134

    (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 CCDC134 gene from 7/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1341 , 5 coiled-coil domain containing 1341, 5 87.63(n)1
    89.52(a)1
      15 (38.47 cM)5
    764571  NM_172428.21  NP_766016.21 
     821279225 
    chicken
    (Gallus gallus)
    Aves CCDC1341 coiled-coil domain containing 134 74.24(n)
    73.36(a)
      417984  XM_416223.3  XP_416223.3 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1346
    --
    73(a)
    1 ↔ 1
    5(26730231-26738306)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3987262 hypothetical protein LOC398726 73.74(n)    BC056656.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005361871 coiled-coil domain-containing protein 134-like 67.71(n)
    63.68(a)
      100536187  XM_003201673.1  XP_003201721.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    24(a)
    1 ↔ 1
    GroupUn.27(37199-38242)
    worm
    (Caenorhabditis elegans)
    Secernentea F56A8.96
    --
    27(a)
    1 ↔ 1
    III(13254567-13256284)


    ENSEMBL Gene Tree for CCDC134 (if available)
    TreeFam Gene Tree for CCDC134 (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

    10/460 NCBI SNPs in CCDC134 are shown (see all 460    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1461344971,2
    --42194724(+) AAAATC/TAGCCG 2 -- us2k1 int10--------
    rs19835551,2
    C,F,H,--42194728(+) TTAGCT/CGGGCA 2 -- int1 us2k16Minor allele frequency- C:0.18NA WA CSA 11
    rs2016282871,2
    --42194732(+) CGGGC-/AATGGT 2 -- us2k1 int10--------
    rs1857471641,2
    --42194809(+) GGAGAC/TTGCAG 2 -- us2k1 int10--------
    rs1902143301,2
    --42194828(+) GAGCCA/GAGATT 2 -- int1 us2k10--------
    rs361077251,2
    C--42194880(+) GTCTC-/AAAAAA 2 -- us2k1 int11Minor allele frequency- A:0.50NA 2
    rs711848421,2
    C--42194881(+) AAAAAA/-GCAAG 2 -- int1 us2k11Minor allele frequency- -:0.00NA 2
    rs1395601,2
    C,F,O,A,H,--42194962(+) GAGACA/GCTGCA 2 -- int1 us2k110Minor allele frequency- G:0.09NS EA NA 776
    rs1503982931,2
    --42194969(+) TGCAGA/TCCAGA 2 -- int1 us2k10--------
    rs1452157251,2
    C,--42195237(+) GTTTTC/TCTCTC 2 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for CCDC134 (42196678 - 42222306 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CCDC134: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCDC134
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC134

    (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

    CCDC134 for disorders           About GeneDecksing

    1 disease for CCDC134:    About MalaCards
    ataxia

    Human Genome Epidemiology (HuGE) Navigator: CCDC134 (2 documents)

    Export disorders for CCDC134 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 CCDC134 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with CCDC134)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CCDC134, a novel secretory protein, inhibits activation of ERK and JNK, but not p38 MAPK. (PubMed id 18087676)1, 3 Huang J....Qiu X. (2008)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    6. CCDC134 interacts with hADA2a and functions as a regul ator of hADA2a in acetyltransferase activity, DNA damage-induced apoptosis and c ell cycle arrest. (PubMed id 22644376)1 Huang J....Qiu X. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (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. Genome-wide association study of CSF biomarkers Abeta 1-42, t-tau, and p-tau181p in the ADNI cohort. (PubMed id 21123754)1 Kim S....Saykin A.J. (2011)
    10. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)

    (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: 79879 HGNC: 26185 AceView: FLJ22349 Ensembl:ENSG00000100147 euGenes: HUgn79879
    ECgene: CCDC134 H-InvDB: CCDC134

    (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 CCDC134 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 CCDC134 gene:
    Search GeneIP for patents involving CCDC134

    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
    About This Section

     
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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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    von Willebrand factor
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