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CCDC122 Gene

protein-coding   GIFtS: 43
GCID: GC13M044398

Coiled-Coil Domain Containing 122

  See related diseases
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 1221 2
Coiled-Coil Domain-Containing Protein 1222

External Ids:    HGNC: 264781   Entrez Gene: 1608572   Ensembl: ENSG000001517737   OMIM: 6134085   UniProtKB: Q5T0U03   
ORGUL members:         

Export aliases for CCDC122 gene to outside databases

Previous GC identifers: GC13M043309 GC13M025212


(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 CCDC122 Gene:
CCDC122 (coiled-coil domain containing 122) is a protein-coding gene. Diseases associated with CCDC122 include leprosy, and polydactyly.


(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:
NC_000013.11  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC122 gene promoter:
         C/EBPbeta   AML1a   Nkx2-2   HSF1 (long)   C/EBPalpha   Ik-2   Cart-1   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC122 promoter sequence
   Search Chromatin IP Primers for CCDC122

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC122


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

Entrez Gene cytogenetic band: 13q14.11   Ensembl cytogenetic band:  13q14.11   HGNC cytogenetic band: 13q14.11

CCDC122 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC122 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M044398:  view genomic region     (about GC identifiers)

Start:
44,398,045 bp from pter      End:
44,453,827 bp from pter
Size:
55,783 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CC122_HUMAN, Q5T0U0 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 122  
Size: 273 amino acids; 32206 Da
Secondary accessions: B2RP70 B7ZMI9 Q96MV0
Alternative splicing: 2 isoforms:  Q5T0U0-1   Q5T0U0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC122: NX_Q5T0U0

Explore proteomics data for CCDC122 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC122 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_659411.2  
    ENSEMBL proteins: 
     ENSP00000407763   ENSP00000281508  

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    (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: Q5T0U0


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, 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 CCDC122
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC122

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    SwitchGear 3'UTR luciferase reporter plasmidCCDC122 3' UTR sequence
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    (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
    cytosol3
    nucleus3
    peroxisome2

    (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 CCDC122
    Interactions:

        Search GeneGlobe Interaction Network for CCDC122

    (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 CCDC122 (CC122)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CCDC122 gene: 
    NM_144974.3  

    Unigene Cluster for CCDC122:

    Coiled-coil domain containing 122
    Hs.170849  [show with all ESTs]
    Unigene Representative Sequence: NM_144974
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000470137 ENST00000444614(uc010acf.3) ENST00000476570(uc010tfn.1)
    ENST00000281508
    miRNA
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    hsa-miR-3606 hsa-miR-16-2* hsa-miR-1237 hsa-miR-3611 hsa-miR-551b* hsa-miR-3647-3p hsa-miR-3658 hsa-miR-195*
    SwitchGear 3'UTR luciferase reporter plasmidCCDC122 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat CCDC122

    Additional mRNA sequence: 

    BC137289.1 BC137290.1 BC144570.1 BC144571.1 

    6 DOTS entries:

    DT.95255628  DT.120790815  DT.100715796  DT.402773  DT.86835824  DT.40198230 

    20 AceView cDNA sequences:

    BP334515 AI743531 AK056408 AA831250 AI377779 AA761347 CB069203 AW105039 
    AI800705 NM_144974 BG212997 AW451953 AA994471 BQ016613 AI613080 BG210897 
    BE569088 BI054673 BE865617 AW444706 

    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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    CCDC122 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCDC122 Expression
    About this image


    CCDC122 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    CCDC122 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC122 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.170849
        Custom PCR Arrays for CCDC122
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC122

    (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 CCDC122 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1221 , 5 coiled-coil domain containing 1221, 5 82.28(n)1
    70.26(a)1
      14 (40.63 cM)5
    1088111  NM_175369.31  NP_780578.11 
     770367725 
    chicken
    (Gallus gallus)
    Aves CCDC1221 coiled-coil domain containing 122 67.06(n)
    56.13(a)
      428068  XM_425626.4  XP_425626.4 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1226
    coiled-coil domain containing 122
    49(a)
    1 ↔ 1
    GL343395.1(349058-369585)


    ENSEMBL Gene Tree for CCDC122 (if available)
    TreeFam Gene Tree for CCDC122 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC122 gene
    17 SIMAP similar genes for CCDC122 using alignment to 2 protein entries:     CC122_HUMAN (see all proteins):
    HC6    MST132    COQ5    KIAA1651    C12orf76    MLL5
    SNRPF    SH2B3    GEMIN6    PFKFB3    TUBA1C    FCER1G
    ATF1    ZRSR2    pp12301    CASC4    FP6778

    CCDC122 for paralogs           About GeneDecksing



    (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 CCDC122 (see all 839)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs23250851,2
    C,F,O,A,H--44410060(+) TGATTG/ATGTTA 1 -- int111Minor allele frequency- A:0.39NA WA CSA EA 508
    rs23250861,2
    C,F,O,A,H--44410088(+) AGTGTT/AAGCCA 1 -- int117Minor allele frequency- A:0.17NS EA NA WA CSA 919
    rs1856096551,2
    --44410238(+) GATGCC/TGTTTG 1 -- int10--------
    rs1896297941,2
    --44410291(+) TCCTAG/TTTGTT 1 -- int10--------
    rs1809298401,2
    C--44410412(+) AAATAC/TGTTAG 1 -- int10--------
    rs128729431,2
    C--44410553(+) ACAAAG/AAAAAA 1 -- ut315Minor allele frequency- A:0.25NA WA EA 362
    rs2000267451,2
    --44410553(+) ACAAA-/GAAAAA 1 -- ut310--------
    rs1870544851,2
    --44410594(+) TGGAGC/TAAAAT 1 -- ut310--------
    rs1923419171,2
    --44410652(+) TATGGA/GCTACT 1 -- ut310--------
    rs95336461,2
    C,F,A--44410669(+) GCAGCT/CGTAAA 1 -- ut3112Minor allele frequency- C:0.40NA WA CSA EA 492

    HapMap Linkage Disequilibrium report for CCDC122 (44398045 - 44453827 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CCDC122:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv273426CNV Insertion20981092
    nsv832595CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC122
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613408    OMIM disorders: --

    2 diseases for CCDC122:    
    About MalaCards
    leprosy    polydactyly

    1 disease from the University of Copenhagen DISEASES database for CCDC122:
    Leprosy

    CCDC122 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CCDC122
    Human Genome Epidemiology (HuGE) Navigator: CCDC122 (1 document)

    Export disorders for CCDC122 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 CCDC122 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC122)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomewide association study of leprosy. (PubMed id 20018961)1, 4 Zhang F.R....Liu J.J. (N. Engl. J. Med. 2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. (PubMed id 17672918)1 Szafranski K....Platzer M. (Genome Biol. 2007)
    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. (Genome Res. 2006)
    5. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (Nature 2004)
    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. 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: 160857 HGNC: 26478 AceView: FLJ31846 Ensembl:ENSG00000151773 euGenes: HUgn160857
    ECgene: CCDC122 H-InvDB: CCDC122

    (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 CCDC122 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 CCDC122 gene:
    Search GeneIP for patents involving CCDC122

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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