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

CCDC12 Gene

protein-coding   GIFtS: 47
GCID: GC03M046939

coiled-coil domain containing 12

  Search for CCDC12
in our new
 Human Malady Compendium 
Biological research products
for CCDC12
    

(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 121 2
MGC239181
Coiled-Coil Domain-Containing Protein 122

External Ids:    HGNC: 283321   Entrez Gene: 1519032   Ensembl: ENSG000001607997   UniProtKB: Q8WUD43   

Export aliases for CCDC12 gene to outside databases


(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_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC12 gene promoter:
         CREB   NF-1   CP2   HOXA5   Lmo2   Nkx2-5   ZID   NF-kappaB   NF-kappaB1   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC12 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC12


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

CCDC12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC12 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M046939:  view genomic region     (about GC identifiers)

Start:
46,963,216 bp from pter      End:
47,023,500 bp from pter
Size:
60,285 bases      Orientation:
minus 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: CCD12_HUMAN, Q8WUD4 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 12  
Size: 166 amino acids; 19181 Da
Secondary accessions: Q8N8I4

Explore the universe of human proteins at neXtProt for CCDC12: NX_Q8WUD4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WUD4

  • CCDC12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_653317.2  
    ENSEMBL proteins: 
     ENSP00000416263   ENSP00000387490   ENSP00000292314   ENSP00000441327  

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    OriGene Protein Over-expression Lysate: CCDC12
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    Novus Biologicals CCDC12 Protein
    Novus Biologicals CCDC12 Lysate
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    Uscn Proteins for CCDC12


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    Uscn ELISAs and CLIAs for CCDC12


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

    CCDC12 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR013169 mRNA_splic_Cwf18

    Graphical View of Domain Structure for InterPro Entry Q8WUD4

    ProtoNet protein and cluster: Q8WUD4


    (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
    Products:
        
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCDC12
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CCDC12:
    hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidCCDC12 3' UTR sequence
    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 CCDC12 (see all 7)
    OriGene shRNA RFP: CCDC12
    OriGene siRNA: CCDC12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC12

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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC12 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC12

    2 GenomeRNAi human phenotypes for CCDC12:
     Decreased Hepatitis C virus re  Increased gamma-H2AX phosphory 


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mRNA Splicing - Major Pathway
    Spliceosome0.31

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for CCDC12):
        Spliceosome


    CCDC12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCDC12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for CCDC12 (Q8WUD42, 3 ENSP000002923144) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRNKL1Q9BZJ02, ENSP000003665574MINT-8337101 MINT-8332064 STRING: ENSP00000366557
    ATG5Q9H1Y03, ENSP000003433134I2D: score=1 STRING: ENSP00000343313
    CDC40ENSP000003043704STRING: ENSP00000304370
    BUD31ENSP000002229694STRING: ENSP00000222969
    XAB2ENSP000003511374STRING: ENSP00000351137
    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 CCDC12
    Search CenterWatch for drugs/clinical trials and news about CCDC12 / CCD12 

    (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 CCDC12 gene: 
    NM_144716.4  

    Unigene Clusters for CCDC12:

    Coiled-coil domain containing 12
    Hs.631918  [show with all ESTs], Hs.692157  [show with all ESTs]
    Unigene Representative Sequences: BM546625, AK295532
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000425441(uc003cqo.2) ENST00000488069(uc011baq.2) ENST00000446836
    ENST00000494655(uc011bar.1) ENST00000460035 ENST00000492819 ENST00000292314
    ENST00000546280

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCDC12
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CCDC12:
    hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidCCDC12 3' UTR sequence
    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 CCDC12 (see all 7)
    OriGene shRNA RFP: CCDC12
    OriGene siRNA: CCDC12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC12
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC12 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC12 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC12 (NM_024584)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC12 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC12
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC12

    Additional cDNA sequence: AK295532.1 

    11 DOTS entries:

    DT.95130304  DT.114842  DT.97854154  DT.100683664  DT.120841724  DT.120841687  DT.75114384  DT.75184413 
    DT.97854156  DT.92043352  DT.99935624 

    24/145 AceView cDNA sequences (see all 145):

    BM830766 CD108843 BM718147 BM712682 C02159 BM769733 W72343 AK098120 
    W19909 BM676030 BM768997 BQ574648 BU684888 BM828367 BM831811 N91255 
    BQ020908 BQ642425 AW613821 D31084 BQ642957 CB853809 BM803652 BG107767 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC12 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for CCDC12

    (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

    CCDC12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGTGGGAAC

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

    About this image
    See CCDC12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC12

    SOURCE GeneReport for Unigene clusters: Hs.631918 Hs.692157
        SABiosciences Custom PCR Arrays for CCDC12
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCDC12
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC12
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC12

    (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 eukaryotes.

    Orthologs for CCDC12 gene from 9/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc121 , 5 coiled-coil domain containing 121, 5 87.95(n)1
    90.36(a)1
      9 (60.37 cM)5
    726541  NM_028312.31  NP_082588.21 
     1106565035 
    chicken
    (Gallus gallus)
    Aves CCDC121 coiled-coil domain containing 12 71.13(n)
    71.34(a)
      420402  NM_001006353.1  NP_001006353.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC126
    --
    73(a)
    1 ↔ 1
    GL343687.1(49478-58776)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.144142 Xenopus laevis transcribed sequence with weak similarity more 76.97(n)    BQ729204.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc121 coiled-coil domain containing 12 64.54(n)
    67.52(a)
      793027  NM_001003589.1  NP_001003589.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG155251 CG15525 53.66(n)
    48.94(a)
      43556  NM_143500.3  NP_651757.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y69A2AR.216
    --
    33(a)
    1 ↔ 1
    IV(2494516-2495173)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G050706
    coiled-coil domain-containing protein 12
    36(a)
    1 ↔ 1
    3(1416148-1417806)
    rice
    (Oryza sativa)
    Liliopsida --
    coiled-coil domain-containing protein 12, putative...
    29(a)
    1 ↔ 1
    6(31146903-31149547)


    ENSEMBL Gene Tree for CCDC12 (if available)
    TreeFam Gene Tree for CCDC12 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CCDC12 gene

    CCDC12 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CCDC12
    PGOHUM00000240042


    (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

    10/931 NCBI SNPs in CCDC12 are shown (see all 931    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1878337791,2
    --46962734(+) AGGGTA/CTCTGT 1 -- int10--------
    rs1921743161,2
    --46962743(+) GTCCTA/GGGGGA 1 -- int10--------
    rs358813851,2
    C,--46962761(+) TAGCT-/CTGACTG 1 -- int10--------
    rs342070781,2
    C,--46962827(+) CCAGCG/AGCATC 1 -- int13Minor allele frequency- A:0.02NA WA 240
    rs1455432841,2
    --46962965(+) GAGGTA/CTTAAA 1 -- int10--------
    rs64420401,2
    C,F,A,H,--46963035(+) ATGGAA/CTGGGC 1 -- int125Minor allele frequency- C:0.43NS EA NA WA CSA 2356
    rs1488803081,2
    --46963060(+) AGAAGA/GCAGCC 1 -- int10--------
    rs758001601,2
    F,--46963062(+) AAGGCA/GGCCCT 1 -- int11Minor allele frequency- G:0.02WA 118
    rs1423127691,2
    --46963068(+) GCCCTA/GAGTGT 1 -- int10--------
    rs756457751,2
    F,--46963110(+) CCAACA/GCAGGG 1 -- int11Minor allele frequency- G:0.07WA 118

    HapMap Linkage Disequilibrium report for CCDC12 (46963216 - 47023500 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CCDC12
         1 CNV: 3428
         1 Indel: 63461

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCDC12
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC12

    (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
      --

    (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 CCDC12 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with CCDC12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Isolation of siRNA target by biotinylated siRNA reveal s that human CCDC12 promotes early erythroid differentiation. (PubMed id 22269669)1 Fan C....Chen M. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    10. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)

    (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: 151903 HGNC: 28332 AceView: MGC23918 Ensembl:ENSG00000160799 euGenes: HUgn151903
    ECgene: CCDC12 Kegg: 151903 H-InvDB: CCDC12

    (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 CCDC12 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 CCDC12 gene:
    Search GeneIP for patents involving CCDC12

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