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

CCDC148 Gene

protein-coding   GIFtS: 41
GCID: GC02M159027

coiled-coil domain containing 148

  Search for CCDC148
in our new
 Human Malady Compendium 
Biological research products
for CCDC148
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Coiled-Coil Domain Containing 1481 2
MGC1255881
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CCDC148

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NFR7

  • CCDC148 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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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    Uscn Proteins for CCDC148


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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCDC148
    8/21 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC148 (see all 4)
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 HMDB, BitterDB, and/or Novoseek, 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 CCDC148
    Search CenterWatch for drugs/clinical trials and news about CCDC148 / CC148 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

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

    Unigene Cluster for CCDC148:

    Coiled-coil domain containing 148
    Hs.668597  [show with all ESTs]
    Unigene Representative Sequence: NM_138803
    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)


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    8/21 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC148 (see all 4)
    OriGene shRNA RFP: CCDC148
    OriGene siRNA: CCDC148
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC148
    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC148 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC148
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC148

    Additional cDNA sequence: 

    AF458588.1 AK123220.1 AK308783.1 AK309246.1 AK311042.1 BC015395.1 BC031994.1 BC105928.1 
    BC107596.1 BC107597.1 

    4 DOTS entries:

    DT.75101069  DT.101978518  DT.100746804  DT.120963119 

    24 AceView cDNA sequences:

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

    CCDC148 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATATGGATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CCDC148 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC148

    SOURCE GeneReport for Unigene cluster: Hs.668597
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CCDC148 gene from 3/14 species (see all 14)    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_422172.3  XP_422172.2 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1486
    --
    57(a)
    1 ↔ 1
    GL343379.1(841978-953221)


    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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/5236 NCBI SNPs in CCDC148 are shown (see all 5236    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113127341,2
    C,F--151203431(+) GACTGA/-AAAAA 2 -- us2k1 trp32Minor allele frequency- -:0.50NA CSA 4
    rs1875808991,2
    --159027387(+) TGAGGC/G/TGTCAC 2 -- int1 ds50010--------
    rs37322811,2
    C,F,H,--159027388(+) GAGGCG/ATCACA 2 -- ds5001 int121Minor allele frequency- A:0.11NA NS EA WA 2482
    rs1901949291,2
    --159027431(+) GTAACA/CCTGGG 2 -- int1 ds50010--------
    rs1399658141,2
    --159027480(+) TAGCTC/TTTGTT 2 -- ds5001 int10--------
    rs756599921,2
    F,--159027506(+) TCTTTT/CTATGA 2 -- int1 ds50011Minor allele frequency- C:0.03NA 120
    rs1435326391,2
    --159027523(+) ATGACA/GAGGCA 2 -- int1 ds50010--------
    rs1460535141,2
    --159027583(+) CATAGA/TATCTT 2 -- int1 ds50010--------
    rs1827788871,2
    --159027597(+) TGAAGA/GTTTAT 2 -- ds5001 int10--------
    rs1867861161,2
    --159027669(+) AGATTC/TCACTA 2 -- ds5001 int10--------

    HapMap Linkage Disequilibrium report for CCDC148 (159027593 - 159277593 bp, first 250kb of CCDC148)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for CCDC148
         5 CNVs: 78835 90092 90093 63219 35750
    Human Gene Mutation Database (HGMD): CCDC148

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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.)
    About This Section

    CCDC148 for disorders           About MalaCards

    CCDC148 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for CCDC148 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CCDC148)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. 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. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    4. 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 Maestrini E....Monaco A.P. (2009)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    7. 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)
    8. 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. (2002)
    9. 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)

    (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: 130940 HGNC: 25191 AceView: LOC130940 Ensembl:ENSG00000153237 euGenes: HUgn130940
    ECgene: CCDC148 H-InvDB: CCDC148

    (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 CCDC148 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
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     CCDC148 Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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