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

CCDC112 Gene

protein-coding   GIFtS: 44
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)
About This Section

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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CCDC112

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NEF3

  • CCDC112 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC112 Protein Expression
    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)
    About This Section

    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    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 - Custom generated mouse model solutions for CCDC112 
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    SwitchGear 3'UTR luciferase reporter plasmidCCDC112 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 CCDC112 (CC112)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CCDC112
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    OriGene ORF clones in mouse, rat for CCDC112
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC112
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC112
    Sirion Biotech Customized lentivirus for stable overexpression of CCDC112 
                         Customized lentivirus expression plasmids for stable overexpression of CCDC112 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC112
      QIAGEN 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 

    24/74 AceView cDNA sequences (see all 74):

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

    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™, 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

    CCDC112 expression in normal human tissues (normalized intensities)      CCDC112 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             mouth   
     
     Ovary (Reproductive System)
             oocyte   
     
     Kidney (Urinary System)
             renal vesicle e12.5   
     
     Blood (Hematopoietic System)
             Small Pre B-Cells Hematopoietic Bone Marrow
     
     Brain (Nervous System)
             ca1 region hippocampus   

    See CCDC112 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC112

    SOURCE GeneReport for Unigene cluster: Hs.436121
        SABiosciences Custom PCR Arrays for CCDC112
    Primer
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CCDC112 gene from 4/12 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 84.13(n)1
    85.52(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 66.43(n)
    55.59(a)
      770644  XM_003643103.1  XP_003643151.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1126
    Uncharacterized protein
    57(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)
    About This Section
    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) 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

    10/641 SNPs in CCDC112 are shown (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

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC112
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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.)
    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 CCDC112 gene integrated from 9 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. (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. (2007)
    3. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (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. (2004)
    6. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    7. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

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

    (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 CCDC112 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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