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CCDC146 Gene

protein-coding   GIFtS: 41
GCID: GC07P076751

Coiled-Coil Domain Containing 146

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(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 1461 2
Coiled-Coil Domain-Containing Protein 1462
KIAA15053

External Ids:    HGNC: 292961   Entrez Gene: 576392   Ensembl: ENSG000001352057   UniProtKB: Q8IYE03   

Export aliases for CCDC146 gene to outside databases

Previous GC identifers: GC07P076590 GC07P076673 GC07P071399


(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 CCDC146 Gene:
CCDC146 (coiled-coil domain containing 146) is a protein-coding gene. An important paralog of this gene is CCDC147.


(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 at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC146 gene promoter:
         SRF   SRF (504 AA)   AP-4   HNF-1A   Evi-1   AREB6   NF-kappaB2   HNF-1   Msx-1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CCDC146 promoter sequence
   Search Chromatin IP Primers for CCDC146

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC146


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

CCDC146 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC146 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P076751:  view genomic region     (about GC identifiers)

Start:
76,751,751 bp from pter      End:
76,958,850 bp from pter
Size:
207,100 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 76,084,997-76,257,584     

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CC146_HUMAN, Q8IYE0 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 146  
Size: 955 amino acids; 112806 Da
Caution: A report observed N-glycosylation at Asn-815 (PubMed:19139490). However, as the protein is not predicted
to localize in an extracellular compartment of the cell, additional evidences are required to confirm this result
Sequence caution: Sequence=BAA96029.1; Type=Erroneous initiation;
Secondary accessions: A8K8X6 Q9P223
Alternative splicing: 2 isoforms:  Q8IYE0-1   Q8IYE0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC146: NX_Q8IYE0

Explore proteomics data for CCDC146 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC146 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065930.2  
    ENSEMBL proteins: 
     ENSP00000388649   ENSP00000285871   ENSP00000413885  

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    Search eBioscience for ELISAs for CCDC146 


    (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: Q8IYE0


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, 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 CCDC146
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    hsa-mir-335-5p (MIRT017684)

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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
    nucleus3
    cytosol2
    golgi apparatus2
    mitochondrion1

    (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 CCDC146
    Interactions:

        Search GeneGlobe Interaction Network for CCDC146

    (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 CCDC146 (CC146)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CCDC146 gene: 
    NM_020879.2  

    Unigene Cluster for CCDC146:

    Coiled-coil domain containing 146
    Hs.113940  [show with all ESTs]
    Unigene Representative Sequence: BX649000
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000415750 ENST00000285871(uc003uga.3) ENST00000461882 ENST00000415740(uc010ldp.3)
    ENST00000461259(uc003ugc.3) ENST00000474733 ENST00000464021 ENST00000478101
    ENST00000488998 ENST00000431197(uc003ufz.1)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CCDC146
      QuantiFast Probe-based Assays in human, mouse, rat CCDC146

    Additional mRNA sequence: 

    AB040938.1 AF461817.1 AK056542.1 AK292491.1 BC029458.1 BC036053.1 BX649000.1 HM370402.1 

    8 DOTS entries:

    DT.100684704  DT.97813628  DT.92419788  DT.443118  DT.100735895  DT.40108249  DT.95192858  DT.95293012 

    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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    CCDC146 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCDC146 Expression
    About this image


    CCDC146 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    CCDC146 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC146 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.113940
        Custom PCR Arrays for CCDC146
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC146

    (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 animals.

    Orthologs for CCDC146 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1461 , 5 coiled-coil domain containing 1461, 5 80.04(n)1
    77.53(a)1
      5 (9.83 cM)5
    751721  NM_029195.11  NP_083471.11 
     212929615 
    chicken
    (Gallus gallus)
    Aves CCDC1461 coiled-coil domain containing 146 60.96(n)
    48.98(a)
      417723  XM_415968.3  XP_415968.3 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1466
    coiled-coil domain containing 146
    52(a)
    1 ↔ 1
    5(95088731-95118971)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc1461 coiled-coil domain containing 146 60.93(n)
    51.24(a)
      100496606  XM_002933100.2  XP_002933146.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc1461 coiled-coil domain containing 146 51.99(n)
    40.85(a)
      767671  NM_001083053.1  NP_001076522.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ory6
    CG58826
    (see all 3)
    --
    17(a)
    15(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    YHet(229033-271450)
    3R(22944368-22947312)


    ENSEMBL Gene Tree for CCDC146 (if available)
    TreeFam Gene Tree for CCDC146 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC146 gene
    CCDC1472  

    Find genes that share paralogs with CCDC146           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CCDC146
    PGOHUM00000250900


    (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 CCDC146 (see all 4467)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1811463111,2
    --71397601(-) TGTCTA/GTGTGT 2 -- us2k10--------
    rs2012559891,2
    C--71397838(-) ATTAC-/AAAAAA 2 -- us2k10--------
    rs1458404851,2
    C--71397842(-) TTCAAC/TTACAA 2 -- us2k10--------
    rs1406639611,2
    C--71398094(-) GATAAA/GTCATT 2 -- us2k10--------
    rs1468863151,2
    --71398127(-) TTATAA/GGCTGT 2 -- us2k10--------
    rs1899498251,2
    --71398617(-) CAGATA/CATATT 2 -- us2k10--------
    rs1843270821,2
    --71398634(-) TCGAAA/CATTTT 2 -- us2k10--------
    rs672159941,2
    C--71398637(-) GCTTCA/GAAAAT 2 -- us2k10--------
    rs1487206141,2
    C--71398746(-) AGTAAC/TAATAA 2 -- us2k10--------
    rs759517331,2
    C--71398750(+) TGTTAC/TTGCAT 2 -- us2k11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for CCDC146 (76751751 - 76958850 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CCDC146 (see all 25):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675079CNV Deletion23128226
    esv2667964CNV Deletion23128226
    esv2734697CNV Deletion23290073
    esv2734696CNV Deletion23290073
    esv2664949CNV Deletion23128226
    esv2734692CNV Deletion23290073
    esv2734698CNV Deletion23290073
    esv2504283CNV Deletion19546169
    esv2734693CNV Deletion23290073
    dgv22n31CNV Duplication19718026

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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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    Find genes that share disorders with CCDC146           About GenesLikeMe

    Genetic Association Database (GAD): CCDC146
    Human Genome Epidemiology (HuGE) Navigator: CCDC146 (1 document)

    Export disorders for CCDC146 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 CCDC146 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with CCDC146)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). (PubMed id 22952603)1 Hart A.B....Palmer A.A. (PLoS ONE 2012)
    5. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PubMed id 20935630)1 Speliotes E.K....Loos R.J. (Nat. Genet. 2010)
    6. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    7. A strategy for precise and large scale identification of core fucosylated glycoproteins. (PubMed id 19139490)2 Jia W.... Qian X.H. (Mol. Cell. Proteomics 2009)
    8. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (BMC Med. Genet. 2007)
    9. 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)
    10. 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)

    (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: 57639 HGNC: 29296 Ensembl:ENSG00000135205 euGenes: HUgn57639 ECgene: CCDC146
    H-InvDB: CCDC146

    (According to HUGE)
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    HUGE: KIAA1505

    (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 CCDC146 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 CCDC146 gene:
    Search GeneIP for patents involving CCDC146

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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