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

CCDC30 Gene

protein-coding   GIFtS: 37
GCID: GC01P042929

coiled-coil domain containing 30
 Explore 1 disease affiliated with
CCDC30 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CCDC30    

Aliases
for CCDC30 gene

(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 301 2     FLJ209721
PFD6L1 2     LOC7286211
Prefoldin Subunit 6-Like Protein2 3     Coiled-Coil Domain-Containing Protein 302
PFDN6L2 3     

External Ids:    HGNC: 261031   Entrez Gene: 7286212   Ensembl: ENSG000001864097   UniProtKB: Q5VVM63   

Export aliases for CCDC30 gene to outside databases

Previous GC identifers: GC01P042778 GC01P041120


Summaries
for CCDC30 gene

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

Genomic Views
for CCDC30 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CCDC30
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CCDC30

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC30


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

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.2

CCDC30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC30 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P042929:  view genomic region     (about GC identifiers)

Start:
 42,929,001 bp from pter      End:
 43,120,335 bp from pter
Size:
 191,335 bases      Orientation:
 plus strand

Proteins
for CCDC30 gene

(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: CCD30_HUMAN, Q5VVM6 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 30  
Size: 783 amino acids; 91333 Da
Secondary accessions: Q14F06 Q5VVM5
Alternative splicing: 2 isoforms:  Q5VVM6-1   Q5VVM6-2   

Explore the universe of human proteins at neXtProt for CCDC30: NX_Q5VVM6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5VVM6

    • CCDC30 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001074319.1  
    ENSEMBL proteins: 
     ENSP00000421479   ENSP00000426711   ENSP00000424370   ENSP00000340378   ENSP00000424339  
     ENSP00000400685   ENSP00000397035   ENSP00000339280   ENSP00000375051  

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    Protein Domains /
    Families
    for CCDC30 gene

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

    ProtoNet protein and cluster: Q5VVM6

    UniProtKB/Swiss-Prot: CCD30_HUMAN, Q5VVM6
    Similarity: Belongs to the prefoldin subunit beta family


    Function
    for CCDC30 gene

    (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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    1 GenomeRNAi human phenotype for CCDC30:
     Decreased Wnt reporter activit 


    Pathways & Interactions
    for CCDC30 gene

    (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 CCDC30

    Drugs & Compounds
    for CCDC30 gene

    (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
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    Browse Tocris compounds for CCDC30
    Search CenterWatch for drugs/clinical trials and news about CCDC30 / CCD30 

    Transcripts
    for CCDC30 gene

    (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,
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    About This Section
    REFSEQ mRNAs for CCDC30 gene: 
    NM_001080850.2  

    Unigene Cluster for CCDC30:

    Coiled-coil domain containing 30
    Hs.729640  [show with all ESTs]
    Unigene Representative Sequence: AL832217
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000475614 ENST00000477155(uc001chm.2) ENST00000468651 ENST00000492422
    ENST00000462063 ENST00000495044 ENST00000507855(uc001chn.2) ENST00000509712(uc010oju.1)
    ENST00000340612 ENST00000471390 ENST00000445157 ENST00000514642(uc001chp.3)
    ENST00000471699 ENST00000428554 ENST00000342022(uc009vwk.1) ENST00000390640


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    hsa-miR-3679-5p hsa-miR-361-5p hsa-miR-300 hsa-miR-539 hsa-miR-381 hsa-miR-624 hsa-miR-1185 hsa-miR-374a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional cDNA sequence: 

    AK302075.1 AL832217.1 AY639646.1 

    4 DOTS entries:

    DT.40129580  DT.75135495  DT.121458250  DT.91910404 

    GeneLoc Exon Structure


    Expression
    for CCDC30 gene

    (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

    CCDC30 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATAAAGAAA

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

    CCDC30 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CCDC30 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC30

    SOURCE GeneReport for Unigene cluster: Hs.729640

    UniProtKB/Swiss-Prot: CCD30_HUMAN, Q5VVM6
    Tissue specificity: Expressed in brain, kidney, pancreas, placenta, liver, thymus and prostate

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC30

    Orthologs
    for CCDC30 gene

    (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 CCDC30 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Ccdc301 , 5 coiled-coil domain containing 301, 5 69.01(n)1
    60.85(a)1    		   4 (55.35 cM)5
    733321  NM_029286.21  NP_083562.11 
     1193228935 
    chicken
    (Gallus gallus)    		 Aves CCDC301 coiled-coil domain containing 30 54.14(n)
    38.76(a)    		   419508  XM_417659.3  XP_417659.3 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5634781 uncharacterized LOC563478 46.56(n)
    33.06(a)    		   563478  XM_686840.4  XP_691932.4 


    ENSEMBL Gene Tree for CCDC30 (if available)
    TreeFam Gene Tree for CCDC30 (if available) 

    Paralogs
    for CCDC30 gene

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

    Genomic Variants
    for CCDC30 gene

    (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

    10/2134 NCBI SNPs in CCDC30 are shown (see all 2134)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1906949011,2
    		--42998603(+) GGCTAA/GTTTTG 1 -- us2k10--------
    rs1135379181,2
    		--42998634(+) ACGGCG/ATTTCA 1 -- us2k12Minor allele frequency- A:0.03CSA WA 120
    rs1814608221,2
    		--42998679(+) CGCCTC/TGGCCT 1 -- us2k10--------
    rs1857072331,2
    		--42998680(+) GCCTCA/GGCCTC 1 -- us2k10--------
    rs1915994451,2
    		--42998724(+) TGCCCA/GGCCAA 1 -- us2k10--------
    rs1451295261,2
    		--42998836(+) ACTTTC/TTTTTA 1 -- us2k10--------
    rs1509393661,2
    		--42998976(+) GCATGC/GCTGGG 1 -- us2k10--------
    rs1406924601,2
    		--42998977(+) CATGCC/TTGGGC 1 -- us2k10--------
    rs1502756351,2
    		--42999051(+) TAAAGA/GATTAA 1 -- us2k10--------
    rs1458523101,2
    		--42999056(+) GATTAA/GTTAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CCDC30 (42929001 - 43120335 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CCDC30
         2 CNVs: 97344 97343

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    Disorders / Diseases
    for CCDC30 gene

    (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
    CCDC30 for disorders           About GeneDecksing

    1 disease for CCDC30:    About MalaCards
    prostatitis


    Export disorders for CCDC30 gene to outside databases

    Publications
    for CCDC30 gene

    (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 CCDC30 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CCDC30)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel human prefoldin and SPEC domain protein gene (PFD6L) from the fetal brain. (PubMed id 16710767)1, 2, 3 Zhang J....Mao Y. (2006)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)

    External Searches for CCDC30 gene

    (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)

    Genome Databases showing CCDC30 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 728621 HGNC: 26103 Ensembl:ENSG00000186409 euGenes: HUgn728621 ECgene: CCDC30
    H-InvDB: CCDC30

    Other Databases showing CCDC30 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CCDC30 gene

    (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 CCDC30 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CCDC30 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CCDC30 gene:
    Search GeneIP for patents involving CCDC30

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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