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CCDC34 Gene

protein-coding   GIFtS: 44
GCID: GC11M027327

Coiled-Coil Domain Containing 34

  See CCDC34-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Coiled-Coil Domain Containing 341 2
Renal Carcinoma Antigen NY-REN-412 3
RAMA32 3
NY-REN-412
Coiled-Coil Domain-Containing Protein 342
NY-REN-41 Antigen2

External Ids:    HGNC: 250791   Entrez Gene: 910572   Ensembl: ENSG000001098817   OMIM: 6123245   UniProtKB: Q96HJ33   
ORGUL members:         

Export aliases for CCDC34 gene to outside databases

Previous GC identifer: GC11M027057


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CCDC34 Gene:
CCDC34 (coiled-coil domain containing 34) is a protein-coding gene. Diseases associated with CCDC34 include spinal stenosis.


(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_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC34 gene promoter:
         Oct-B1   oct-B2   GATA-3   oct-B3   POU2F2   GATA-2   GATA-1   POU2F2C   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC34 promoter sequence
   Search Chromatin IP Primers for CCDC34

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC34


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

Entrez Gene cytogenetic band: 11p14.1   Ensembl cytogenetic band:  11p14.1   HGNC cytogenetic band: 11p14.1

CCDC34 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC34 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M027327:  view genomic region     (about GC identifiers)

Start:
27,352,374 bp from pter      End:
27,385,415 bp from pter
Size:
33,042 bases      Orientation:
minus 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: CCD34_HUMAN, Q96HJ3 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 34  
Size: 373 amino acids; 43225 Da
Miscellaneous: Antigen recognized by autologous antibody in patients with renal-cell carcinoma
Sequence caution: Sequence=AAD42874.1; Type=Frameshift; Positions=9, 21; Sequence=AAO13807.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=AAO13807.1; Type=Frameshift; Positions=142, 243;
Secondary accessions: B2R8G2 Q8IX69 Q9H2A6 Q9Y599
Alternative splicing: 2 isoforms:  Q96HJ3-1   Q96HJ3-2   

Explore the universe of human proteins at neXtProt for CCDC34: NX_Q96HJ3

Explore proteomics data for CCDC34 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC34 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_110398.1  NP_542385.1  

    ENSEMBL proteins: 
     ENSP00000330240   ENSP00000321563  

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    Search eBioscience for ELISAs for CCDC34 


    (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: Q96HJ3


    (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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC34
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC34

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCDC34
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    miRTarBase miRNAs that target CCDC34:
    hsa-mir-21-5p (MIRT030787)

    Block miRNA regulation of human, mouse, rat CCDC34 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CCDC34:
    hsa-miR-29a* hsa-miR-877
    SwitchGear 3'UTR luciferase reporter plasmidCCDC34 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC34

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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC34
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC34

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC34


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    (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 CCDC34
    Interactions:

        Search GeneGlobe Interaction Network for CCDC34

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for CCDC34 (ENSP000003302404) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STAU1ENSP000003609224STRING: ENSP00000360922
    About this table

    (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 CCDC34 (CCD34)



    (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 CCDC34 gene (2 alternative transcripts): 
    NM_030771.1  NM_080654.2  

    Unigene Cluster for CCDC34:

    Coiled-coil domain containing 34
    Hs.143733  [show with all ESTs]
    Unigene Representative Sequence: BC008496
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000529615 ENST00000328697(uc001mrh.1) ENST00000317945(uc001mri.1)

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate CCDC34:
    hsa-miR-29a* hsa-miR-877
    SwitchGear 3'UTR luciferase reporter plasmidCCDC34 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CCDC34
    Predesigned siRNA for gene silencing in human, mouse, rat CCDC34
    Clone
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    OriGene ORF clones in mouse, rat for CCDC34
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC34 (NM_080654)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC34
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC34
    Primer
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    OriGene qPCR primer pairs and template standards for CCDC34
    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC34
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC34
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC34
      QuantiFast Probe-based Assays in human, mouse, rat CCDC34

    Additional mRNA sequence: 

    AF155108.1 AF301222.1 AF382034.1 AK308494.1 AK313358.1 AY598334.1 BC008496.1 BC029421.1 

    8 DOTS entries:

    DT.314193  DT.91749133  DT.95234691  DT.100743401  DT.99974394  DT.99987343  DT.120758807  DT.95238375 

    Selected AceView cDNA sequences (see all 152):

    BU071514 BC008496 BM782278 AA115878 AY598334 CR600953 BG944076 BP376820 
    BG941410 AA449090 BX109360 NM_080654 CR597641 AI479296 BM763395 AA747313 
    BG213196 AA687242 BX447083 CA945002 AA861509 AA648459 BX097073 BM977298 

    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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    CCDC34 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTTTTGCA
    CCDC34 Expression
    About this image

    CCDC34 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC34 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.143733
        Custom PCR Arrays for CCDC34
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CCDC34
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC34

    (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 chordates.

    Orthologs for CCDC34 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc341 , 5 coiled-coil domain containing 341, 5 80.04(n)1
    71.15(a)1
      2 (56.66 cM)5
    682011  NM_026613.41  NP_080889.31 
     1100178175 
    chicken
    (Gallus gallus)
    Aves CCDC341 coiled-coil domain containing 34 67.19(n)
    59.45(a)
      421609  XM_003641284.2  XP_003641332.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc341 coiled-coil domain containing 34 57.2(n)
    48.15(a)
      100494757  XM_002937674.2  XP_002937720.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CCDC346
    coiled-coil domain containing 34
    28(a)
    1 ↔ 1
    25(3710215-3721436) ENSDARG00000003582


    ENSEMBL Gene Tree for CCDC34 (if available)
    TreeFam Gene Tree for CCDC34 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC34 gene

    Find genes that share paralogs with CCDC34           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CCDC34
    PGOHUM00000246029


    (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 CCDC34 (see all 528)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs122900671,2
    C,F--27288308(+) tgatcG/Atgcca 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1912300511,2
    --27288474(+) ACTTAA/CATTCT 1 -- ds50010--------
    rs764827981,2
    C,F--27288541(+) TAAGGG/ATTACT 1 -- ds50011Minor allele frequency- A:0.03NA 120
    rs796266531,2
    C,F--27288639(+) AAAAAT/CTGTTA 1 -- ut311Minor allele frequency- C:0.07NA 120
    rs1508719021,2
    --27288679(+) TACAAA/GCTAAA 1 -- ut310--------
    rs771088381,2
    F--27288729(+) AAAACA/GACATG 1 -- ut310--------
    rs108351671,2
    C,F,H--27288749(+) ACCTTG/AAAAAG 1 -- ut3118Minor allele frequency- A:0.02NS EA WA NA CSA 1457
    rs1439089471,2
    --27288808(+) CCATAC/TACAAA 1 -- ut310--------
    rs1809441451,2
    C--27288909(+) CTCCAC/GATAAA 1 -- ut310--------
    rs758916221,2
    C,F--27288919(+) AAGCAT/CGTTAT 1 -- ut311Minor allele frequency- C:0.05WA 118

    HapMap Linkage Disequilibrium report for CCDC34 (27352374 - 27385415 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CCDC34:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv467782CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC34
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC34

    (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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    OMIM gene information: 612324    OMIM disorders: --

    UniProtKB/Swiss-Prot: CCD34_HUMAN, Q96HJ3
  • Note=A chromosomal aberration involving CCDC34 is found in a patient with hamartoma of the retinal
    pigment epithelium and retina. Translocation t(11;18) (p13;p11.2)

  • 1 disease for CCDC34:    
    About MalaCards
    spinal stenosis

    1 disease from the University of Copenhagen DISEASES database for CCDC34:
    Spinal stenosis

    Find genes that share disorders with CCDC34           About GenesLikeMe


    Export disorders for CCDC34 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 CCDC34 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC34)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium. (PubMed id 11173847)1, 2, 3 Kutsche K.... Gal A. (Cytogenet. Cell Genet. 2000)
    2. Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer. (PubMed id 15334068)1, 2 Petroziello J.... Carter P. (Oncogene 2004)
    3. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (Int. J. Cancer 1999)
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 91057 HGNC: 25079 AceView: NY-REN-41 Ensembl:ENSG00000109881 euGenes: HUgn91057
    ECgene: CCDC34 H-InvDB: CCDC34

    (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 CCDC34 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 CCDC34 gene:
    Search GeneIP for patents involving CCDC34

    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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     Custom PCR Arrays for CCDC34 Search Chromatin IP Primers for CCDC34
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC34
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     Search Addgene for plasmids for CCDC34
      Search eBioscience for proteins for CCDC34
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      eBioscience FlowRNA Probe Sets
           
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