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CCDC112 Gene

protein-coding   GIFtS: 46
GCID: GC05M114602

Coiled-Coil Domain Containing 112

  Search for CCDC112
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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Aliases
Coiled-Coil Domain Containing 1121 2
Mutated In Bladder Cancer Protein 12 3
MBC12 3
Coiled-Coil Domain-Containing Protein 1122
Mutated In Bladder Cancer 12

External Ids:    HGNC: 285991   Entrez Gene: 1537332   Ensembl: ENSG000001642217   UniProtKB: Q8NEF33   

Export aliases for CCDC112 gene to outside databases

Previous GC identifers: GC05M114630 GC05M109785


(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 CCDC112 Gene:
CCDC112 (coiled-coil domain containing 112) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC112 gene promoter:
         FOXF2   FOXD3   POU3F2 (N-Oct-5b)   POU3F2   HNF-3beta   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC112 promoter sequence
   Search Chromatin IP Primers for CCDC112

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC112


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

Entrez Gene cytogenetic band: 5q22.3   Ensembl cytogenetic band:  5q22.3   HGNC cytogenetic band: 5q22.3

CCDC112 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC112 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M114602:  view genomic region     (about GC identifiers)

Start:
114,602,885 bp from pter      End:
114,632,528 bp from pter
Size:
29,644 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: CC112_HUMAN, Q8NEF3 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 112  
Size: 446 amino acids; 53565 Da
Secondary accessions: Q6A334
Alternative splicing: 2 isoforms:  Q8NEF3-1   Q8NEF3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC112: NX_Q8NEF3

Explore proteomics data for CCDC112 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr409
  • Modification sites at PhosphoSitePlus

  • See CCDC112 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001035530.1  NP_689762.2  

    ENSEMBL proteins: 
     ENSP00000368931   ENSP00000423712   ENSP00000424876   ENSP00000378925  

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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: Q8NEF3


    (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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
         
    CCDC112 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CCDC112:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC112
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    miRTarBase miRNAs that target CCDC112:
    hsa-mir-335-5p (MIRT018839)

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    5 qRT-PCR Assays for microRNAs that regulate CCDC112:
    hsa-miR-33a* hsa-miR-7-1* hsa-miR-7-2* hsa-miR-330-3p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidCCDC112 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC112

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC112


    (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
    endoplasmic reticulum2
    nucleus2
    cytosol1
    extracellular1
    lysosome1
    peroxisome1
    plasma membrane1

    (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 CCDC112
    Interactions:

        Search GeneGlobe Interaction Network for CCDC112

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for CCDC112 (Q8NEF32, 3 ENSP000003689314) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-66612 I2D: score=4 STRING: ENSP00000311695
    TEX9Q8N6V92, 3, ENSP000003421694MINT-66828 I2D: score=4 STRING: ENSP00000342169
    LURAP1Q96LR23, ENSP000003610484I2D: score=3 STRING: ENSP00000361048
    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 CCDC112 (CC112)



    (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 CCDC112 gene (2 alternative transcripts): 
    NM_001040440.2  NM_152549.2  

    Unigene Cluster for CCDC112:

    Coiled-coil domain containing 112
    Hs.436121  [show with all ESTs]
    Unigene Representative Sequence: NM_152549
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379611(uc003kqy.2 uc003kqz.2 uc003kra.2) ENST00000512261
    ENST00000506442 ENST00000395557 ENST00000502975 ENST00000513730 ENST00000503027

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate CCDC112:
    hsa-miR-33a* hsa-miR-7-1* hsa-miR-7-2* hsa-miR-330-3p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidCCDC112 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC112
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    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC112 (NM_001040440)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC112
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC112
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC112
      QuantiFast Probe-based Assays in human, mouse, rat CCDC112

    Additional mRNA sequence: 

    AJ580807.1 AK307327.1 BC031242.1 

    5 DOTS entries:

    DT.99992471  DT.109704  DT.99963946  DT.120844428  DT.86852007 

    Selected AceView cDNA sequences (see all 74):

    AW160841 BM920778 CR604116 AW196877 CB159927 BM874684 BU950252 CB409979 
    BM676359 BG680569 BQ029037 CB306814 BU678651 CB134654 NM_152549 BM873447 
    AW161283 BP431930 CD107888 BM873516 BM975079 BC031242 AA357020 BM874339 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC112    About this scheme

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


    ECgene alternative splicing isoforms for CCDC112

    (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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    CCDC112 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTGTTTTA
    CCDC112 Expression
    About this image


    CCDC112 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Small Pre B-Cells Hematopoietic Bone Marrow
    CCDC112 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC112 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.436121
        Custom PCR Arrays for CCDC112
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC112

    (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 CCDC112 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1121 , 5 coiled-coil domain containing 1121, 5 84.11(n)1
    84.93(a)1
      18 (24.48 cM)5
    2402611  NM_001160399.11  NP_001153871.11 
     462821515 
    chicken
    (Gallus gallus)
    Aves CCDC1121 coiled-coil domain containing 112 66.74(n)
    54.5(a)
      770644  XM_003643103.2  XP_003643151.2 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1126
    coiled-coil domain containing 112
    59(a)
    1 ↔ 1
    GL343193.1(8168222-8179684)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB756754.12   -- 72.36(n)    CB756754.1 


    ENSEMBL Gene Tree for CCDC112 (if available)
    TreeFam Gene Tree for CCDC112 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC112 gene

    CCDC112 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CCDC112
    PGOHUM00000243668


    (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 CCDC112 (see all 641)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1432475621,2
    --109816771(+) GGACTA/GGTAGA 1 -- us2k10--------
    rs787949831,2
    F--109816781(+) AAGGAG/ATTCAT 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1141374531,2
    C,F--114602468(+) TTAGAG/CACAGG 2 -- ds50011Minor allele frequency- C:0.02WA 118
    rs1863218601,2
    --114602847(+) TGAGGC/TAAACA 2 -- ds50010--------
    rs1904403441,2
    C--114603265(+) TGCTAC/TGCTAT 2 -- ut310--------
    rs1497195441,2
    --114603443(+) CCTCTA/CAATTC 2 -- ut310--------
    rs750944651,2
    C,F--114603446(+) CTCAAT/ATCACA 2 -- ut313Minor allele frequency- A:0.06CSA WA 122
    rs174591371,2
    C,F,H--114603455(+) CAATAT/AAGCAC 2 -- ut3127Minor allele frequency- A:0.05NA NS EA WA 3028
    rs1826966791,2
    --114603829(+) GTTAAC/TCTACT 2 -- int10--------
    rs1452250951,2
    --114603958(+) GGCATC/GAGGTA 2 -- int10--------

    HapMap Linkage Disequilibrium report for CCDC112 (114602885 - 114632528 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CCDC112:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830454CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC112
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC112

    (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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      --

    (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 CCDC112 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC112)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. 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)
    3. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    5. 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)
    6. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)
    7. (PubMed id )2 

    (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: 153733 HGNC: 28599 AceView: MGC39633 Ensembl:ENSG00000164221 euGenes: HUgn153733
    ECgene: CCDC112 H-InvDB: CCDC112

    (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 CCDC112 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 CCDC112 gene:
    Search GeneIP for patents involving CCDC112

    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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