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

CC2D2B Gene

protein-coding   GIFtS: 39
GCID: GC10P097709

coiled-coil and C2 domain containing 2B

(Previous name: chromosome 10 open reading frame 130 )
(Previous symbol: C10orf130)
 Explore 1 disease affiliated with
CC2D2B via our new
 Human Malady Compendium 
Biological research products
for CC2D2B
    

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

Aliases
Coiled-Coil And C2 Domain Containing 2B1 2
C10orf1301 2 3
BA248J23.41
Chromosome 10 Open Reading Frame 1301
Protein CC2D2B2

External Ids:    HGNC: 316661   Entrez Gene: 3877072   Ensembl: ENSG000001886497   UniProtKB: Q6DHV53   

Export aliases for CC2D2B gene to outside databases

Previous GC identifers: GC10P097725 GC10P097751 GC10P091387


(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_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CC2D2B gene promoter:
         COUP-TF1   GR   AML1a   Pax-6   COUP   IRF-1   Evi-1   COUP-TF   ARP-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCC2D2B promoter sequence
   Search SABiosciences Chromatin IP Primers for CC2D2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CC2D2B


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

Entrez Gene cytogenetic band: 10q24.1   Ensembl cytogenetic band:  10q24.1   HGNC cytogenetic band: 10q23.33

CC2D2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CC2D2B gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P097709:  view genomic region     (about GC identifiers)

Start:
97,709,744 bp from pter      End:
97,792,441 bp from pter
Size:
82,698 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: C2D2B_HUMAN, Q6DHV5 (See protein sequence)
Recommended Name: Protein CC2D2B  
Size: 322 amino acids; 37073 Da
Secondary accessions: A2A3E9 B4DYD4 E9PCC3 Q5VUS0
Alternative splicing: 2 isoforms:  Q6DHV5-1   Q6DHV5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CC2D2B: NX_Q6DHV5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6DHV5

  • CC2D2B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001001732.2  NP_001153219.1  

    ENSEMBL proteins: 
     ENSP00000391834   ENSP00000386988   ENSP00000343747   ENSP00000360241   ENSP00000411217  

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

    ProtoNet protein and cluster: Q6DHV5


    (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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    (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 CC2D2B

    (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 CC2D2B
    Search CenterWatch for drugs/clinical trials and news about CC2D2B / C2D2B 

    (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,
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    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 CC2D2B gene (2 alternative transcripts): 
    NM_001001732.3  NM_001159747.1  

    Unigene Cluster for CC2D2B:

    Coiled-coil and C2 domain containing 2B
    Hs.652240  [show with all ESTs]
    Unigene Representative Sequence: NM_001159747
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469549 ENST00000484685 ENST00000472454 ENST00000475252 ENST00000424464
    ENST00000410012 ENST00000344386 ENST00000371198(uc001klk.3) ENST00000451649(uc010qop.2 uc001kll.3)


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    Additional cDNA sequence: 

    AK302377.1 BC075861.1 

    5 DOTS entries:

    DT.95338646  DT.100836726  DT.100737081  DT.65288235  DT.121262557 

    11 AceView cDNA sequences:

    BI829244 BC075861 AA877128 AI888804 AA382570 AK123423 NM_001001732 AA621323 
    BX093579 AL045376 CD358293 

    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

    CC2D2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCCTTTTGA

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

    About this image
    See CC2D2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CC2D2B

    SOURCE GeneReport for Unigene cluster: Hs.652240
        SABiosciences Custom PCR Arrays for CC2D2B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CC2D2B

    (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 CC2D2B gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cc2d2b1 , 5 coiled-coil and C2 domain containing 2B1, 5 82.58(n)1
    83.25(a)1
      19 (34.26 cM)5
    6683101  XM_001000795.41  XP_001000795.41 
     407489165 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    19(a)
    1 ↔ 1
    GL343262.1(1486847-1538912)
    zebrafish
    (Danio rerio)
    Actinopterygii cc2d2a6
    coiled-coil and C2 domain containing 2A
    10(a)
    1 → many
    23(2209630-2273572)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG433706
    --
    7(a)
    possible ortholog
    2R(13426827-13431858)


    ENSEMBL Gene Tree for CC2D2B (if available)
    TreeFam Gene Tree for CC2D2B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CC2D2B gene
    C10orf1312  CC2D2A2  
    1 SIMAP similar gene for CC2D2B using alignment to 4 protein entries:     C2D2B_HUMAN (see all proteins):
    CC2D2A

    CC2D2B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CC2D2B
    PGOHUM00000232897


    (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

    10/510 NCBI SNPs in CC2D2B are shown (see all 510    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs124144101,2
    C,F,H,--97757893(+) AGGCTC/TACAAG 3 -- int1 us2k15Minor allele frequency- T:0.23NA CSA WA EA 364
    rs1889382061,2
    --97758023(+) TACATC/TACTAT 3 -- us2k1 int10--------
    rs1819304121,2
    --97758049(+) TTTAAC/TGTTAG 3 -- us2k1 int10--------
    rs1148604471,2
    F,--97758086(+) ATAGGT/ATTTGA 3 -- us2k1 int11Minor allele frequency- A:0.04WA 118
    rs1871705021,2
    --97758160(+) CATCCC/TGTGTG 3 -- us2k1 int10--------
    rs1503203241,2
    --97758184(+) TCCCTC/TCCTCC 3 -- int1 us2k10--------
    rs1435236051,2
    C,--97758305(+) TAGAC-/AGAGAGA 3 -- us2k1 int10--------
    rs1172037331,2
    --97758385(+) AGGGTA/GGGATG 3 -- us2k1 int11Minor allele frequency- G:0.01NA 120
    rs1911834641,2
    --97758570(+) AACTGC/TACCTA 3 -- us2k1 int10--------
    rs1808022131,2
    --97758792(+) GAGATC/TGCGCC 3 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for CC2D2B (97709744 - 97792441 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CC2D2B: --

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CC2D2B for disorders           About GeneDecksing

    1 disease for CC2D2B:    About MalaCards
    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for CC2D2B:
    Nephronophthisis
    Human Genome Epidemiology (HuGE) Navigator: CC2D2B (1 document)

    Export disorders for CC2D2B 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 CC2D2B gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CC2D2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
    6. 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. (2002)

    (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: 387707 HGNC: 31666 AceView: C10orf130 Ensembl:ENSG00000188649 euGenes: HUgn387707
    ECgene: CC2D2B H-InvDB: CC2D2B

    (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 CC2D2B 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 CC2D2B gene:
    Search GeneIP for patents involving CC2D2B

    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),
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    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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    VWF
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    von Willebrand factor
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