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CCDC112 Gene

protein-coding   GIFtS: 42

GC05M109785
coiled-coil domain containing 112
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

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

Aliases & Descriptions
coiled-coil domain containing 1121 2     mutated in bladder cancer 12
MGC396331 2     OTTHUMP000002229132
Mutated in bladder cancer protein 12 3     coiled-coil domain-containing protein 1122
MBC12 3     OTTHUMP000002229142

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

Export aliases for CCDC112 gene to outside databases

Previous GC identifers: GC05M114630 GC05M114602


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC112 gene promoter:
         Pax-6   FOXO3b   FOXO3a   FOXJ2 (long isoform)   AREB6   RORalpha1   FOXI1   HSF1 (long)   HSF2   RFX1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CCDC112

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M109785:  view genomic region     (about GC identifiers)

Start:
109,785,258 bp from pter
End:
109,814,831 bp from pter
Size:
29,574 bases
Orientation:
minus strand

1 alternative location:
Chr5- 114,602,885-114,632,528     
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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   

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000368931 ENSP00000424876 ENSP00000378925 ENSP00000296647 ENSP00000423712 


    Human Recombinant Proteins 
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    Browse antibodies at Epitomics

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


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

    ProtoNet protein and cluster: Q8NEF3


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for CCDC112
    Sigma-Aldrich shRNA for CCDC112
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): CCDC112
    OriGene shRNA RFP (see all 2): CCDC112
    OriGene basic RS shRNA (see all 2): CCDC112
    OriGene siRNA (see all 2): CCDC112
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CCDC112 
    miRNA:Sigma-Aldrich microRNA Mimics for CCDC112
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CCDC112 
    1 SABiosciences Assays for microRNA that regulate CCDC112:
    hsa-miR-330-3p

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CCDC112
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CCDC112
    OriGene untagged cDNA clones in CMV expression vector (see all 2): CCDC112
    OriGene 3'-UTR clone (see all 2): CCDC112 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CCDC112 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for CCDC112 

    1 Gene Ontology (GO) molecular function term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding ----
    About this table

    CCDC112 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Custom Pathway-Focused PCR Arrays for CCDC112 

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCDC112

    2 Interacting proteins for CCDC112 (Q8NEF32) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342MINT-66612
    TEX9Q8N6V92MINT-66828
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CCDC112


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for CCDC112
    Sigma-Aldrich shRNA for CCDC112
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): CCDC112
    OriGene shRNA RFP (see all 2): CCDC112
    OriGene basic RS shRNA (see all 2): CCDC112
    OriGene siRNA (see all 2): CCDC112
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CCDC112 
    miRNA: Sigma-Aldrich microRNA Mimics for CCDC112
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CCDC112 
    1 SABiosciences Assays for microRNA that regulate CCDC112:
    hsa-miR-330-3p
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CCDC112
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CCDC112
    OriGene untagged cDNA clones in CMV expression vector (see all 2): CCDC112
    OriGene 3'-UTR Clone (see all 2): CCDC112 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CCDC112 
    Primers: OriGene genome-wide validated SYBR primer pairs: CCDC112
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CCDC112: PPH09338A

    REFSEQ mRNAs for CCDC112 gene (2 alternative transcripts): 

    NM_001040440.2  NM_152549.2  

    Additional cDNA sequence: 

    AJ580807.1 AK307327.1 BC031242.1 CR604116.1 

    5 DOTS entries:

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

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

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

    highest scoring ESTs for CCDC112:

    BI458748 AA227689 AA855011 AI619774 AI652029 AI983755 AW160841 AW161283 AW196877 BC031242 

    Unigene Cluster for CCDC112:

    Coiled-coil domain containing 112
    Hs.436121  [show with all ESTs]
    Unigene Representative Sequence: NM_152549


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for CCDC112
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503027 ENST00000379611 ENST00000502975 ENST00000506442 ENST00000513730
    ENST00000395557 ENST00000296647(uc003kqy.2 uc003kqz.2 uc003kra.2)
    ENST00000512261

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    CCDC112 expression in normal and diseased human tissues

    1  / 2  / 3

    3 probe-sets matching CCDC112 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    56805_at2, 3 U95-C 1 0.81 1.00 1.00 1.00 N52761 0.60 1.00 0.82 1
    235208_at2, 3 U133-B 1 0.36 1.00 -- -- AW157712 0.40 1.00 0.76 1
    235208_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    About this table

    CCDC112 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    CCDC112 gene expression
    CCDC112 gene electronic northern expression
    CCDC112 gene sage expression
    About these images

    CGAP SAGE TAG: CTTTGTTTTA

    SOURCE GeneReport for Unigene cluster: Hs.436121
    Primers: OriGene genome-wide validated SYBR primer pairs: CCDC112
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CCDC112: PPH09338A
        SABiosciences Custom PCR Arrays for CCDC112 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for CCDC112 gene from 5/8 species (see all 8)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CCDC1121   -- coiled-coil domain containing 112 87.73(n)
    86(a)
    474638  XM_531868.2  XP_531868.2 
    chimpanzee
    (Pan troglodytes)
    CCDC1121   -- coiled-coil domain containing 112 99.56(n)
    99.24(a)
    462009  XM_517884.2  XP_517884.2 
    cow
    (Bos taurus)
    CCDC1121   -- coiled-coil domain containing 112 90.06(n)
    90.63(a)
    509840  XM_586889.3  XP_586889.3 
    rat
    (Rattus norvegicus)
    Ccdc1121   -- coiled-coil domain containing 112 84.57(n)
    85.71(a)
    498858  XM_574144.2  XP_574144.1 
    mouse
    (Mus musculus)
    Ccdc1121 , 5 18 (24.48 cM)5
    coiled-coil domain containing 1121, 5 84.13(n)1
    85.52(a)1
    2402611  XM_140320.71  XP_140320.71 
     AA0486995  AA1619845  (see all 18)
    About this table        Species with no ortholog for CCDC112

    ENSEMBL Gene Tree for CCDC112 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/259 NCBI SNPs in CCDC112 are shown (see all 259)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 5 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs1170601,2
    C,F,O,114615046(-) CAAATG/TCTATT 2 -- int116Minor allele frequency- T:0.10NA EA NS WA 964
    rs1691271,2
    C,F,114626755(+) gttccT/Cgatca 2 -- int19Minor allele frequency- C:0.26NS EA NA WA 698
    rs2672951,2
    C,F,O,114611356(+) CCCTTC/AATTTT 2 -- int118Minor allele frequency- A:0.11NS EA NA WA 1088
    rs2672961,2
    C,F,A,114612035(+) ttacaT/Cagcca 2 -- int16Minor allele frequency- C:0.25NS EA WA 552
    rs2672971,2
    C,F,O,A,H,114614047(+) TAGGTG/ATTTCT 2 -- int113Minor allele frequency- A:0.46NA NS EA WA 778
    rs2672981,2
    C,F,A,H,114618222(+) CTATAG/ATGCCA 2 -- int19Minor allele frequency- A:0.42NS EA NA WA 634
    rs2672991,2
    C,F,114619445(+) AAATAG/TAGACC 2 -- int113Minor allele frequency- T:0.09NS EA NA WA 862
    rs2673001,2
    C,F,A,H,114622705(+) tacgaT/Cttgta 2 -- int110Minor allele frequency- C:0.12NS EA NA WA 582
    rs2673011,2
    C,F,O,A,H,114624218(+) GTGCAC/TACAAT 2 -- int114Minor allele frequency- T:0.12NA NS EA WA 728
    rs2673021,2
    C,F,A,H,114627751(+) tgggaA/Cgtctt 2 -- int112Minor allele frequency- C:0.12NS EA NA WA 586
    About this table

    HapMap Linkage Disequilibrium images for CCDC112 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CCDC112
         1 CNV: 4473

    QIAGEN SeqTarget long-range PCR primers for resequencing CCDC112 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    7 PubMed articles for CCDC112 gene integrated from 7 sources:
    (articles sorted by number of sources associating them with CCDC112)
    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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, 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 by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

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     Browse antibodies at Epitomics
     Browse ProSpec Recombinant Proteins

     Browse ELISAs and CLIAs at Uscn
           

    GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 10 Jan 2011 , 10 Jan 2011

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