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

CCDC136 Gene

protein-coding   GIFtS: 48
GCID: GC07P128430

coiled-coil domain containing 136

 Explore 3 diseases affiliated with
CCDC136 via our new
 Human Malady Compendium 
Biological research products
for CCDC136
    

(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 1361 2
KIAA17931 3 5
Nasopharyngeal Carcinoma-Associated Gene 6 Protein2 3
NAG61 5
DKFZP434G1561
Coiled-Coil Domain-Containing Protein 1362

External Ids:    HGNC: 222251   Entrez Gene: 647532   Ensembl: ENSG000001285967   OMIM: 6119025   UniProtKB: Q96JN23   

Export aliases for CCDC136 gene to outside databases

Previous GC identifers: GC07P128219 GC07P122792


(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_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC136 gene promoter:
         E2F-4   E2F-3a   E2F-5   AP-1   ATF-2   E2F-2   E2F   E2F-1   USF-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): CCDC136 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC136

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC136


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

Entrez Gene cytogenetic band: 7q33   Ensembl cytogenetic band:  7q32.1   HGNC cytogenetic band: 7q33

CCDC136 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC136 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P128430:  view genomic region     (about GC identifiers)

Start:
128,430,811 bp from pter      End:
128,462,186 bp from pter
Size:
31,376 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 127,815,083-127,845,928     

(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: CC136_HUMAN, Q96JN2 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 136  
Size: 1154 amino acids; 134045 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Miscellaneous: Restriction fragment length polymorphisms (RFLPs) in gastric cancer showed loss of 5 kb fragment in
comparison with the corresponding normal tissue
Sequence caution: Sequence=AF156971; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAB14590.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB47422.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened;
Secondary accessions: A4D1K1 A7MCY7 A8MYA7 Q6ZVK7 Q9H8M3 Q9UFE1
Alternative splicing: 4 isoforms:  Q96JN2-1   Q96JN2-2   Q96JN2-3   Q96JN2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC136: NX_Q96JN2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96JN2

  • CCDC136 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001188301.1  NP_073579.4  

    ENSEMBL proteins: 
     ENSP00000418838   ENSP00000417708   ENSP00000367956   ENSP00000419515   ENSP00000417209  
     ENSP00000418042   ENSP00000420509   ENSP00000297788   ENSP00000417931   ENSP00000417991  

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    Uscn Proteins for CCDC136

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0016021integral to membrane IEA--


    CCDC136 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CCDC136


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

    ProtoNet protein and cluster: Q96JN2


    (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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    hsa-miR-370 hsa-miR-2115 hsa-miR-555 hsa-miR-1827 hsa-miR-3145-3p hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidCCDC136 3' UTR sequence
    Inhib. RNA
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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 CCDC136

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/11 Interacting proteins for CCDC136 (Q96JN22, 3 ENSP000002977884) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKN2Q165132, 3, ENSP000003595524MINT-8266656 I2D: score=2 STRING: ENSP00000359552
    DISC1Q9NRI53, ENSP000003555964I2D: score=2 STRING: ENSP00000355596
    ATXN1P542533, ENSP000002447694I2D: score=1 STRING: ENSP00000244769
    COILP384323, ENSP000002403164I2D: score=1 STRING: ENSP00000240316
    GFI1BQ5VTD93, ENSP000003447824I2D: score=1 STRING: ENSP00000344782
    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 CCDC136
    Search CenterWatch for drugs/clinical trials and news about CCDC136 / CC136 

    (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 CCDC136 gene (2 alternative transcripts): 
    NM_001201372.1  NM_022742.4  

    Unigene Cluster for CCDC136:

    Coiled-coil domain containing 136
    Hs.521178  [show with all ESTs]
    Unigene Representative Sequence: NM_022742
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485998 ENST00000459946 ENST00000378685(uc003vnu.2) ENST00000464832
    ENST00000472049 ENST00000488925 ENST00000487361 ENST00000297788(uc003vnv.2)
    ENST00000480137(uc003vnx.2 uc010llq.2 uc003vny.2) ENST00000494552
    ENST00000528772 ENST00000464672 ENST00000485832 ENST00000460941 ENST00000471729


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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate CCDC136:
    hsa-miR-370 hsa-miR-2115 hsa-miR-555 hsa-miR-1827 hsa-miR-3145-3p hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidCCDC136 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB058696.1 AK023500.1 AK124447.1 AL133027.1 BC150331.1 BC152408.1 

    15 DOTS entries:

    DT.97814867  DT.99954759  DT.40211437  DT.97803614  DT.121071031  DT.95228950  DT.444765  DT.121070983 
    DT.121071022  DT.40239454  DT.444764  DT.95087487  DT.95161506  DT.97773734  DT.121003113 

    24/88 AceView cDNA sequences (see all 88):

    AI580749 NM_022742 AK124447 AA301612 AI032374 BQ009656 AL044719 AL042602 
    CR595997 AB058696 T33167 CD557153 BU194825 BM930706 AL133027 AA077347 
    BG721616 AI498231 AI918726 AI208900 BU741373 AA078190 BX411225 BM724712 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC136 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c · 12d ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
    SP1:                                                                          -     -                                                                           
    SP2:                          -                       -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -               
    SP3:                                                                          -     -                                                     -     -     -         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 17b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CCDC136

    (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

    CCDC136 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTCCCCATC

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

    About this image
    See CCDC136 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC136

    SOURCE GeneReport for Unigene cluster: Hs.521178

    UniProtKB/Swiss-Prot: CC136_HUMAN, Q96JN2
    Tissue specificity: Expressed in gastric tissues. Down-regulated in gastric cancer

        SABiosciences Custom PCR Arrays for CCDC136
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CCDC136 gene from 1/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii CU302436.46
    ccdc136b6
    (see all 3)
    coiled-coil domain containing 136b
    (see all 3)
    38(a)
    33(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    25(36057553-36073753)
    4(9079285-9117677)


    ENSEMBL Gene Tree for CCDC136 (if available)
    TreeFam Gene Tree for CCDC136 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CCDC136 gene
    TRAF3IP32  SLMAP2  
    1 SIMAP similar gene for CCDC136 using alignment to 8 protein entries:     CC136_HUMAN (see all proteins):
    SLMAP

    CCDC136 for paralogs           About GeneDecksing



    (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

    10/472 NCBI SNPs in CCDC136 are shown (see all 472    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs353428901,2
    C--127822972(+) ACATT-/AAAAAA 1 -- int12Minor allele frequency- A:0.25NA 4
    rs1416143021,2
    --128429594(+) GATTG-/AC    
       CTTTA
    ACTCA
    1 -- us2k10--------
    rs782363281,2
    F,--128429663(+) GATCCC/TCCTAA 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs1473820581,2
    --128429735(+) AGGGGC/TGAGCA 1 -- us2k10--------
    rs1395901321,2
    --128429977(+) ATTCCC/TAGACG 1 -- us2k10--------
    rs1432085721,2
    --128430329(+) ACTTTC/GCTAAT 1 -- us2k10--------
    rs791360571,2
    C,F,--128430378(+) TCTTTC/ATTGCG 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs608713861,2
    C,F,--128430437(+) GCAGCG/TGGGGG 1 -- us2k18Minor allele frequency- T:0.14WA NA CSA EA 368
    rs1475216191,2
    --128430490(+) AGAGAC/GGGGAT 1 -- us2k10--------
    rs1169789671,2
    F,--128430846(+) GCCACC/TGGAGG 1 -- us2k11Minor allele frequency- T:0.05NA 120

    HapMap Linkage Disequilibrium report for CCDC136 (128430811 - 128462186 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for CCDC136
         5 CNVs: 70039 59382 4559 94867 9584
         1 Indel: 100117

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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

    CCDC136 for disorders           About GeneDecksing

    OMIM gene information: 611902    OMIM disorders: --

    3 diseases for CCDC136:    About MalaCards
    gastric cancer    ataxia    schizophrenia

    Human Genome Epidemiology (HuGE) Navigator: CCDC136 (1 document)

    Export disorders for CCDC136 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 CCDC136 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with CCDC136)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression of tumor related gene NAG6 in gastric cancer and restriction fragment length polymorphism analysis. (PubMed id 15112360)1, 2, 3, 9 Zhang X.-M.... Li G.-Y. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    4. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (2001)
    5. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    7. Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. (PubMed id 17043677)1 Camargo L.M....Brandon N.J. (2007)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
    10. A protein interaction framework for human mRNA degradation. (PubMed id 15231747)1 Lehner B. and Sanderson C.M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64753 HGNC: 22225 AceView: DKFZP434G156 Ensembl:ENSG00000128596 euGenes: HUgn64753
    ECgene: CCDC136 H-InvDB: CCDC136

    (According to HUGE)
    About This Section
    HUGE: KIAA1793

    (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 CCDC136 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 CCDC136 gene:
    Search GeneIP for patents involving CCDC136

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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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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