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CCDC144B Gene

pseudogene   GIFtS: 33
GCID: GC17M018475

Coiled-Coil Domain Containing 144B (Pseudogene)

(Previous name: coiled-coil domain containing 144B)
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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 144B (Pseudogene)1 2
Coiled-Coil Domain Containing 144B1

External Ids:    HGNC: 267041   Entrez Gene: 2840472   Ensembl: ENSG000001548747   UniProtKB: Q3MJ403   

Export aliases for CCDC144B gene to outside databases

Previous GC identifers: GC17M018384 GC17M018427 GC17M018486 GC17M018127 GC17M018433 GC17M018436


(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 CCDC144B Gene:
CCDC144B (coiled-coil domain containing 144B (pseudogene)) is a pseudogene.


(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_000017.10  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC144B gene promoter:
         Oct-B1   POU2F2 (Oct-2.1)   oct-B2   oct-B3   Evi-1   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC144B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC144B


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

CCDC144B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC144B gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M018475:  view genomic region     (about GC identifiers)

Start:
18,441,114 bp from pter      End:
18,528,930 bp from pter
Size:
87,817 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for CCDC144B

(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: C144B_HUMAN, Q3MJ40 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 144B  
Size: 725 amino acids; 82951 Da
Sequence caution: Sequence=AAH62767.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
Secondary accessions: Q6P5Q3 Q8N200
Alternative splicing: 2 isoforms:  Q3MJ40-1   Q3MJ40-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC144B: NX_Q3MJ40

Explore proteomics data for CCDC144B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC144B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


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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: Q3MJ40

    UniProtKB/Swiss-Prot: C144B_HUMAN, Q3MJ40
    Similarity: Belongs to the CCDC144 family


    (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 CCDC144B
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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
    cytosol2
    nucleus2
    extracellular1
    golgi apparatus1
    mitochondrion1
    peroxisome1
    plasma membrane1

    (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 CCDC144B
    Interactions:

        Search GeneGlobe Interaction Network for CCDC144B

    (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 CCDC144B (C144B)



    (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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    Unigene Cluster for CCDC144B:

    Coiled-coil domain containing 144B (pseudogene)
    Hs.448012  [show with all ESTs]
    Unigene Representative Sequence: NR_036647
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000457330(uc010vyc.2) ENST00000609768 ENST00000447265 ENST00000609959
    ENST00000442583 ENST00000425214 ENST00000445752(uc002guc.2) ENST00000455629
    ENST00000450277 ENST00000285176(uc002gua.4)
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    Additional mRNA sequence: 

    BC062767.1 NR_036647.1 

    7 DOTS entries:

    DT.75183426  DT.120910416  DT.97822314  DT.101984340  DT.120932519  DT.120990973  DT.99945733 

    Selected AceView cDNA sequences (see all 95):

    BC075826 AI336255 AW295621 AV706383 CD251995 CB216518 AA971656 AJ710250 
    AL706067 AV651150 BQ268920 AA713655 BQ709775 AA258868 BV194151 AK093811 
    BG150476 AV706283 BX481066 BV200191 NM_145809 BV193944 BV194612 BV194595 

    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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    CCDC144B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGCCCAACA
    CCDC144B Expression
    About this image

    CCDC144B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC144B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.448012
        Custom PCR Arrays for CCDC144B
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    In Situ
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    (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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    ENSEMBL Gene Tree for CCDC144B (if available)
    TreeFam Gene Tree for CCDC144B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC144B gene
    4 SIMAP similar genes for CCDC144B using alignment to 2 protein entries:     C144B_HUMAN (see all proteins):
    CCDC144A    CCDC144NL    LOC254750    CCDC144CP

    Find genes that share paralogs with CCDC144B           About GenesLikeMe



    (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 CCDC144B (see all 937)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs16822581,2
    F--18441314(+) ataggC/Ttgtgt 1 -- nc-transcript-variantese31Minor allele frequency- T:0.00NA 2
    rs1158983741,2
    F--18441316(+) AGGCTG/ATGTCA 1 -- nc-transcript-variant1Minor allele frequency- A:0.03WA 118
    rs2017789001,2
    C--18441714(+) GCCAGC/TGGAGT 1 -- nc-transcript-variant0--------
    rs1834203681,2
    --18442708(+) CCCAAA/GGCAAT 1 -- nc-transcript-variant0--------
    rs1505036101,2
    --18442753(+) TTGACA/CTTCTT 1 -- nc-transcript-variant0--------
    rs1394474351,2
    C--18443098(+) CTGGAC/TCCCTT 1 -- nc-transcript-variant0--------
    rs1477866311,2
    --18443520(+) AACAAA/GCAAAA 1 -- nc-transcript-variant0--------
    rs1879179231,2
    --18443619(+) AAAAAA/CTGAAA 1 -- nc-transcript-variant0--------
    rs1412294251,2
    --18443667(+) TACACC/TGTTGA 1 -- nc-transcript-variant0--------
    rs1927704791,2
    --18443778(+) GTGTAC/TACCCA 1 -- nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for CCDC144B (18441114 - 18528930 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CCDC144B (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670394CNV Deletion23128226
    nsv833388CNV Loss17160897
    nsv511593CNV Loss21212237
    nsv469661CNV Gain16826518
    esv29176CNV Gain19812545
    nsv428333CNV Gain18775914
    dgv3079n71CNV Gain21882294
    nsv827913CNV Gain20364138
    nsv907782CNV Gain21882294
    nsv9504CNV Gain+Loss18304495

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CCDC144B
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC144B

    (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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      --

    (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 CCDC144B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC144B)
        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. (Nat. Genet. 2004)
    2. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. (PubMed id 11997339)1, 3 Park S.S....Lupski J.R. (Genome Res. 2002)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    4. 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)
    5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    6. 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)
    7. 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: 284047 HGNC: 26704 AceView: LOC220594 Ensembl:ENSG00000154874 euGenes: HUgn284047
    ECgene: CCDC144B H-InvDB: CCDC144B

    (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 CCDC144B 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 CCDC144B gene:
    Search GeneIP for patents involving CCDC144B

    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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