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CCDC148 Gene

protein-coding   GIFtS: 40
GCID: GC02M159027

Coiled-Coil Domain Containing 148

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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 1481 2
Coiled-Coil Domain-Containing Protein 1482

External Ids:    HGNC: 251911   Entrez Gene: 1309402   Ensembl: ENSG000001532377   UniProtKB: Q8NFR73   

Export aliases for CCDC148 gene to outside databases

Previous GC identifers: GC02M158737 GC02M150916


(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 CCDC148 Gene:
CCDC148 (coiled-coil domain containing 148) 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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Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC148 gene promoter:
         Elk-1   p53   HNF-4alpha2   CUTL1   HNF-4alpha1   PPAR-gamma1   PPAR-gamma2   CP1C   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC148 promoter sequence
   Search Chromatin IP Primers for CCDC148

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC148


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

Entrez Gene cytogenetic band: 2q24.1   Ensembl cytogenetic band:  2q24.1   HGNC cytogenetic band: 2q24.1

CCDC148 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC148 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M159027:  view genomic region     (about GC identifiers)

Start:
159,027,593 bp from pter      End:
159,313,265 bp from pter
Size:
285,673 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CC148_HUMAN, Q8NFR7 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 148  
Size: 591 amino acids; 71076 Da
Sequence caution: Sequence=AAI07598.1; Type=Frameshift; Positions=383;
Secondary accessions: F5H839 Q3B7I3 Q3B7I4 Q3KR41 Q4ZG12 Q4ZG23 Q53TM6 Q96BN5 Q96LM2
Alternative splicing: 4 isoforms:  Q8NFR7-1   Q8NFR7-2   Q8NFR7-3   Q8NFR7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC148: NX_Q8NFR7

Explore proteomics data for CCDC148 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC148 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001165108.1  NP_620158.3  

    ENSEMBL proteins: 
     ENSP00000283233   ENSP00000398372   ENSP00000386674   ENSP00000415540   ENSP00000400751  
     ENSP00000415343   ENSP00000386583   ENSP00000443740  

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    Cloud-Clone Corp. Proteins for CCDC148

     
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    antibodies-online proteins for CCDC148 (3 products) 

     
    antibodies-online peptides for CCDC148

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    Cloud-Clone Corp. ELISAs for CCDC148
    Cloud-Clone Corp. CLIAs for CCDC148
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    antibodies-online kits for CCDC148 (16 products) 


    (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: Q8NFR7


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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:
       genOway: Develop your customized and physiologically relevant rodent model for CCDC148

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CCDC148 (see all 21):
    hsa-miR-30c hsa-miR-4263 hsa-miR-30d hsa-miR-374a hsa-miR-138-2* hsa-miR-30a hsa-miR-1255a hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidCCDC148 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC148

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC148

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC148


    (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

    (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 CCDC148
    Interactions:

        Search GeneGlobe Interaction Network for CCDC148

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for CCDC148 (Q8NFR73 ENSP000002832334) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SAT1P216733, ENSP000003685724I2D: score=1 STRING: ENSP00000368572
    CBX1ENSP000002256034STRING: ENSP00000225603
    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 CCDC148 (CC148)



    (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 CCDC148 gene (2 alternative transcripts): 
    NM_001171637.1  NM_138803.3  

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000283233(uc002tzq.3 uc002tzr.3 uc010foh.3) ENST00000454257
    ENST00000409187 ENST00000448656 ENST00000417066 ENST00000451554(uc010foi.2)
    ENST00000409889(uc002tzs.2) ENST00000491563 ENST00000536771(uc010fok.2 uc010foj.2)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CCDC148 (see all 21):
    hsa-miR-30c hsa-miR-4263 hsa-miR-30d hsa-miR-374a hsa-miR-138-2* hsa-miR-30a hsa-miR-1255a hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidCCDC148 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC148
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC148
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC148
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC148
      QuantiFast Probe-based Assays in human, mouse, rat CCDC148

    24 AceView cDNA sequences:

    BG179320 NM_138803 BX282228 AI650321 BF940211 AI424612 BF593824 AW615222 
    AK123220 AF458588 AI359353 AK058105 BF940091 AW188468 BE856330 BF111993 
    BG678084 BC031994 BC015395 BG291599 BP369440 BF594137 AI634798 AW055164 

    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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    CCDC148 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATATGGATA
    CCDC148 Expression
    About this image

    CCDC148 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC148 Protein Expression
        Custom PCR Arrays for CCDC148
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC148

    (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 CCDC148 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1481 , 5 coiled-coil domain containing 1481, 5 79.91(n)1
    74.14(a)1
      2 (33.30 cM)5
    2279331  NM_001001178.11  NP_001001178.11 
     588216975 
    chicken
    (Gallus gallus)
    Aves CCDC1481 coiled-coil domain containing 148 64.32(n)
    53(a)
      424327  XM_422172.4  XP_422172.2 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1486
    coiled-coil domain containing 148
    57(a)
    1 ↔ 1
    GL343379.1(799183-956371)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc1481 coiled-coil domain containing 148 60.34(n)
    52.41(a)
      100487394  XM_004917688.1  XP_004917745.1 


    ENSEMBL Gene Tree for CCDC148 (if available)
    TreeFam Gene Tree for CCDC148 (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 CCDC148 (see all 4845)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1457136281,2
    --151203366(+) CATGTA/GTATTT 2 -- us2k10--------
    rs113127341,2
    C,F--151203431(+) GACTGA/-AAAAA 2 -- us2k1 trp32Minor allele frequency- -:0.50NA CSA 4
    rs714210771,2
    C,F--151203442(+) AAAAAT/AAAATG 2 -- us2k12Minor allele frequency- A:0.50NA 4
    rs2019714821,2
    --151203442(+) AAAAA-/TAAATG 2 -- us2k10--------
    rs1869039321,2
    --159093249(+) GCTTTC/TCTCTA 1 -- int10--------
    rs1930944541,2
    --159093290(+) TTTCAC/TTCATT 1 -- int10--------
    rs762544091,2
    F--159093372(+) GACAAA/GTTCTC 1 -- int11Minor allele frequency- G:0.03WA 118
    rs768124221,2
    C,F--159093391(+) TGGGGC/TTTACA 1 -- int11Minor allele frequency- T:0.01NA 120
    rs1151398581,2
    F--159093422(+) ATAGTC/TAATAA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1842127421,2
    --159093451(+) AAGTGC/TTAAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for CCDC148 (159027593 - 159277593 bp, first 250kb of CCDC148)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CCDC148:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659913CNV Deletion23128226
    esv2721020CNV Deletion23290073
    esv2721019CNV Deletion23290073
    nsv2992CNV Insertion18451855
    esv269335CNV Insertion20981092
    nsv508876CNV Insertion20534489
    esv272995CNV Insertion20981092
    nsv459885CNV Loss19166990
    nsv875329CNV Loss21882294
    esv24817CNV Loss19812545

    Human Gene Mutation Database (HGMD): CCDC148
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC148
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC148

    (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 CCDC148           About GenesLikeMe

    Genetic Association Database (GAD): CCDC148
    Human Genome Epidemiology (HuGE) Navigator: CCDC148 (4 documents)

    Export disorders for CCDC148 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 CCDC148 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with CCDC148)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PubMed id 19401682)1, 4 Maestrini E....Monaco A.P. (Mol. Psychiatry 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. Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1. (PubMed id 21297076)1 Leikauf G.D....Prows D.R. (Am. J. Respir. Crit. Care Med. 2011)
    5. An empirical framework for binary interactome mapping. (PubMed id 19060904)1 Venkatesan K....Vidal M. (Nat. Methods 2009)
    6. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    7. 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)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    9. 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)
    10. 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: 130940 HGNC: 25191 AceView: LOC130940 Ensembl:ENSG00000153237 euGenes: HUgn130940
    ECgene: CCDC148 H-InvDB: CCDC148

    (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 CCDC148 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 CCDC148 gene:
    Search GeneIP for patents involving CCDC148

    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, eBioscience, antibodies-online, 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 genOway)
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     Block miRNA regulation of human, mouse, rat CCDC148 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CCDC148
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     Custom PCR Arrays for CCDC148 Search Chromatin IP Primers for CCDC148
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     Search for Antibodies & Assays

     Search Tocris compounds for CCDC148 (CC148)
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
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     Proteins for CCDC148
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     Browse ESI BIO Cell Lines and PureStem Progenitors for CCDC148
     Gene Synthesis
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC148
     Browse compounds at ApexBio
     Search Addgene for plasmids for CCDC148
      Search eBioscience for proteins for CCDC148
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      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for CCDC148
     antibodies-online antibodies for CCDC148 (23 products)
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     antibodies-online proteins for CCDC148 (3 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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