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CCDC154 Gene

protein-coding   GIFtS: 34
GCID: GC16M001484

Coiled-Coil Domain Containing 154

(Previous name: chromosome 16 open reading frame 29)
(Previous symbol: C16orf29)
  See related disease
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 1541 2
C16orf291 2
Chromosome 16 Open Reading Frame 291
Coiled-Coil Domain-Containing Protein 1542

External Ids:    HGNC: 344541   Entrez Gene: 6458112   Ensembl: ENSG000001975997   UniProtKB: A6NI563   

Export aliases for CCDC154 gene to outside databases

Previous GC identifers: GC16M001426 GC16M001412


(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 CCDC154 Gene:
CCDC154 (coiled-coil domain containing 154) is a protein-coding gene. Diseases associated with CCDC154 include osteopetrosis.


(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_000016.10  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC154 gene promoter:
         HOXA9   HOXA9B   IRF-1   Tal-1beta   YY1   Meis-1b   PPAR-gamma1   PPAR-gamma2   ITF-2   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC154

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC154


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

CCDC154 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC154 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M001484:  view genomic region     (about GC identifiers)

Start:
1,484,384 bp from pter      End:
1,494,557 bp from pter
Size:
10,174 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CC154_HUMAN, A6NI56 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 154  
Size: 674 amino acids; 76013 Da
Miscellaneous: Overexpression suppresses cell proliferation by inducing G2/M arrest (PubMed:22895184)
Secondary accessions: G9JV18
Alternative splicing: 2 isoforms:  A6NI56-1   A6NI56-2   

Explore the universe of human proteins at neXtProt for CCDC154: NX_A6NI56

Explore proteomics data for CCDC154 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC154 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001137452.1  
    ENSEMBL proteins: 
     ENSP00000456484   ENSP00000386744   ENSP00000373828  

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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: A6NI56


    (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 CCDC154
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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 UniProtKB/Swiss-Prot
    CC154_HUMAN, A6NI56: Early endosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    endosome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005769early endosome IEA--

    CCDC154 for ontologies           About GeneDecksing


    (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 CCDC154
    Interactions:

        Search GeneGlobe Interaction Network for CCDC154

    (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 CCDC154 (CC154)



    (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,
    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 CCDC154 gene: 
    NM_001143980.1  

    Unigene Cluster for CCDC154:

    Coiled-coil domain containing 154
    Hs.355232  [show with all ESTs]
    Unigene Representative Sequence: NM_001143980
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483702 ENST00000409671(uc010uve.2) ENST00000463299(uc010brp.3)
    ENST00000389176
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat CCDC154

    Additional mRNA sequence: 

    BC011663.2 BC061641.1 JN935901.1 

    5 DOTS entries:

    DT.91661606  DT.100801634  DT.97810427  DT.101956067  DT.120699722 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC154    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16
    SP1:                                                                                                                        
    SP2:                                                                                            -                           
    SP3:                                                                                      -     -                           
    SP4:                                                                                                                        
    SP5:                                                                                                              -         


    ECgene alternative splicing isoforms for CCDC154

    (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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    CCDC154 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTGCTGGG
    CCDC154 Expression
    About this image

    CCDC154 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC154 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.355232
        Custom PCR Arrays for CCDC154
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC154

    (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 human and mouse.

    Orthologs for CCDC154 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1541 , 5 coiled-coil domain containing 1541, 5 74.25(n)1
    67.97(a)1
      17 (12.53 cM)5
    2072091  NM_001079929.21  NP_001073398.21 
     251624615 


    ENSEMBL Gene Tree for CCDC154 (if available)
    TreeFam Gene Tree for CCDC154 (if available)

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

    (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 CCDC154 (see all 314)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs359696381,2
    C,F--1483946(+) AGGGCC/TGTCTC 1 -- ds50017Minor allele frequency- T:0.22NA CSA WA EA 366
    rs1825041631,2
    --1483949(+) GCCGTA/CTCCTC 1 -- ds50010--------
    rs1871719031,2
    --1483990(+) GGCTGC/TTGGGC 1 -- ds50010--------
    rs359356031,2
    C,F--1484065(+) AACCCG/-GGCAG 1 -- ds50012Minor allele frequency- -:0.50NA CSA 4
    rs1911899781,2
    C--1484110(+) CTAGGC/TGCTTC 1 -- ds50010--------
    rs71965351,2
    C,F,A,H--1484127(+) GGCCCC/TAGCCA 1 -- ds500110Minor allele frequency- T:0.03NA WA CSA EA 370
    rs1824012071,2
    C--1484193(+) GAGAGA/GCTGCT 1 -- ds50010--------
    rs1158102281,2
    C,F--1484325(+) CACCCC/TGCTCA 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs71921001,2
    C,F,A,H--1484338(+) CCCACG/AGGCCC 1 -- ds500110Minor allele frequency- A:0.25NA CSA WA EA 371
    rs71969511,2
    C,F,A--1484348(+) CTGGGT/GAGGCT 1 -- ds50018Minor allele frequency- G:0.26NA WA CSA EA 367

    HapMap Linkage Disequilibrium report for CCDC154 (1484384 - 1494557 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CCDC154 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    nsv904954CNV Loss21882294
    dgv2534n71CNV Loss21882294
    nsv904950CNV Loss21882294
    nsv817713CNV Loss17921354
    dgv2527n71CNV Loss21882294
    dgv2532n71CNV Loss21882294
    nsv904991CNV Loss21882294
    nsv471066CNV Loss18288195
    nsv905004CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    1 disease for CCDC154:    
    About MalaCards
    osteopetrosis

    1 disease from the University of Copenhagen DISEASES database for CCDC154:
    Osteopetrosis

    CCDC154 for disorders           About GeneDecksing


    Export disorders for CCDC154 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 CCDC154 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC154)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Overexpression of a novel osteopetrosis-related gene CCDC154 suppresses cell proliferation by inducing G2/M arrest. (PubMed id 22895184)1, 2 Liao W.... Lu X. (Cell Cycle 2012)
    2. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    3. 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: 645811 HGNC: 34454 Ensembl:ENSG00000197599 euGenes: HUgn645811 ECgene: CCDC154
    H-InvDB: CCDC154

    (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 CCDC154 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 CCDC154 gene:
    Search GeneIP for patents involving CCDC154

    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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