Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



COBLL1 Gene

protein-coding   GIFtS: 55
GCID: GC02M165510

Cordon-Bleu WH2 Repeat Protein-Like 1

(Previous name: COBL-like 1)
  Try our

disease database 

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Cordon-Bleu WH2 Repeat Protein-Like 11 2
COBL-Like 11 2
COBLR12 5
KIAA09773 5
Cordon-Bleu Protein-Like 12

External Ids:    HGNC: 235711   Entrez Gene: 228372   Ensembl: ENSG000000824387   OMIM: 6103185   UniProtKB: Q53SF73   

Export aliases for COBLL1 gene to outside databases

Previous GC identifers: GC02M165743 GC02M165366 GC02M165249 GC02M157423


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

GeneCards Summary for COBLL1 Gene:
COBLL1 (cordon-bleu WH2 repeat protein-like 1) is a protein-coding gene. GO annotations related to this gene include actin binding. An important paralog of this gene is COBL.

Gene Wiki entry for COBLL1 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the COBLL1 gene promoter:
         SRF   NF-1   FOXF2   Pbx1a   ATF-2   SRF (504 AA)   MyoD   Nkx2-5   AREB6   CP2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOBLL1 promoter sequence
   Search Chromatin IP Primers for COBLL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COBLL1


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

Entrez Gene cytogenetic band: 2q24.3   Ensembl cytogenetic band:  2q24.3   HGNC cytogenetic band: 2q24.3

COBLL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COBLL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M165510:  view genomic region     (about GC identifiers)

Start:
165,510,134 bp from pter      End:
165,700,189 bp from pter
Size:
190,056 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: COBL1_HUMAN, Q53SF7 (See protein sequence)
Recommended Name: Cordon-bleu protein-like 1  
Size: 1204 amino acids; 131787 Da
Sequence caution: Sequence=BAA76821.2; Type=Erroneous initiation; Sequence=CAB43215.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for COBLL1:
2DAJ (3D)    
Secondary accessions: A6NMZ3 Q6IQ33 Q7Z3I6 Q9BRH4 Q9UG88 Q9Y2I3
Alternative splicing: 5 isoforms:  Q53SF7-1   Q53SF7-2   Q53SF7-3   Q53SF7-4   Q53SF7-5   

Explore the universe of human proteins at neXtProt for COBLL1: NX_Q53SF7

Explore proteomics data for COBLL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See COBLL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001265387.1  NP_001265389.1  NP_001265390.1  NP_055715.3  

    ENSEMBL proteins: 
     ENSP00000364607   ENSP00000341360   ENSP00000387326   ENSP00000416311   ENSP00000400146  
     ENSP00000397520   ENSP00000406062   ENSP00000397835   ENSP00000409237   ENSP00000387967  
     ENSP00000388110   ENSP00000194871   ENSP00000376478  

    COBLL1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for COBLL1
    GenScript Custom Purified and Recombinant Proteins Services for COBLL1
    Novus Biologicals COBLL1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for COBLL1

     
    Search eBioscience for Proteins for COBLL1 

     
    Search antibodies-online for proteins for COBLL1 

     
    antibodies-online peptides for COBLL1

    COBLL1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for COBLL1
    Novus Biologicals COBLL1 Antibodies
    Abcam antibodies for COBLL1
    Cloud-Clone Corp. Antibodies for COBLL1
    Search ThermoFisher Antibodies for COBLL1
    LSBio Antibodies in human, mouse, rat for COBLL1
    antibodies-online antibodies for COBLL1 (24 products) 

    COBLL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for COBLL1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for COBLL1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for COBLL1
    Cloud-Clone Corp. CLIAs for COBLL1
    Search eBioscience for ELISAs for COBLL1 
    antibodies-online kits for COBLL1 (4 products) 


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

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR019025 Cordon-bleu_ubiquitin_domain
     IPR003124 WH2_dom

    Graphical View of Domain Structure for InterPro Entry Q53SF7

    ProtoNet protein and cluster: Q53SF7

    1 Blocks protein domain: IPB003124 Actin-binding WH2

    UniProtKB/Swiss-Prot: COBL1_HUMAN, Q53SF7
    Similarity: Contains 1 WH2 domain


    Find genes that share domains with COBLL1           About GenesLikeMe


    (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.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
         
    Find genes that share ontologies with COBLL1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for COBLL1:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COBLL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COBLL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COBLL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COBLL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target COBLL1:
    hsa-mir-192-5p (MIRT026290), hsa-mir-21-5p (MIRT030747), hsa-mir-215-5p (MIRT024539)

    Block miRNA regulation of human, mouse, rat COBLL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COBLL1 (see all 18):
    hsa-miR-3128 hsa-miR-15a hsa-miR-519a hsa-miR-103a hsa-miR-424 hsa-miR-1827 hsa-miR-195 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidCOBLL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COBLL1
    Predesigned siRNA for gene silencing in human, mouse, rat COBLL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for COBLL1

    Clone
    Products:
         
    OriGene clones in human, mouse for COBLL1 (see all 8)
    OriGene ORF clones in mouse, rat for COBLL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COBLL1 (NM_014900)
    Sino Biological Human cDNA Clone for COBLL1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COBLL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COBLL1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for COBLL1
    Browse ESI BIO Cell Lines and PureStem Progenitors for COBLL1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COBLL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with COBLL1           About GenesLikeMe


    (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).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COBLL1
    Interactions:

        Search GeneGlobe Interaction Network for COBLL1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for COBLL1 (Q53SF73 ENSP000001948714) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PACSIN1Q9BY113, ENSP000002444584I2D: score=3 STRING: ENSP00000244458
    NRD1ENSP000003468904STRING: ENSP00000346890
    --ENSP000004079504STRING: ENSP00000407950
    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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COBLL1 (COBL1)



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for COBLL1 gene (4 alternative transcripts): 
    NM_001278458.1  NM_001278460.1  NM_001278461.1  NM_014900.4  

    Unigene Cluster for COBLL1:

    Cordon-bleu WH2 repeat protein-like 1
    Hs.470457  [show with all ESTs]
    Unigene Representative Sequence: BX649112
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000495084 ENST00000375458(uc002ucq.3) ENST00000342193(uc002ucp.3)
    ENST00000409184(uc010zcx.2) ENST00000493868(uc002uco.3) ENST00000489955(uc002ucn.3)
    ENST00000493713 ENST00000456171 ENST00000491126 ENST00000460238 ENST00000434366
    ENST00000474975 ENST00000452626 ENST00000456693 ENST00000448708 ENST00000439313
    ENST00000444537 ENST00000414843
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat COBLL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COBLL1 (see all 18):
    hsa-miR-3128 hsa-miR-15a hsa-miR-519a hsa-miR-103a hsa-miR-424 hsa-miR-1827 hsa-miR-195 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidCOBLL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for COBLL1
    Predesigned siRNA for gene silencing in human, mouse, rat COBLL1
    Clone
    Products:
         
    OriGene clones in human, mouse for COBLL1 (see all 8)
    OriGene ORF clones in mouse, rat for COBLL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COBLL1 (NM_014900)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COBLL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COBLL1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for COBLL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COBLL1
      QuantiTect SYBR Green Assays in human, mouse, rat COBLL1
      QuantiFast Probe-based Assays in human, mouse, rat COBLL1

    Additional mRNA sequence: 

    AB023194.1 AK001813.1 AK002054.1 AK002057.1 AK075181.1 AK225849.1 AK294937.1 AL049939.1 
    BC006264.2 BC071588.1 BX649112.1 

    20 DOTS entries:

    DT.99933044  DT.100838658  DT.452816  DT.91658233  DT.100722412  DT.308876  DT.92435937  DT.86849616 
    DT.92043622  DT.100693568  DT.403473  DT.95099218  DT.120935353  DT.120935361  DT.40204880  DT.91844715 
    DT.95099171  DT.95099222  DT.120935371  DT.92417763 

    Selected AceView cDNA sequences (see all 298):

    AU137997 BX438772 AA766062 AV659864 BQ022875 BF436425 AI373437 AI572296 
    AA236849 BU431602 AA831416 AA938743 AI262946 AI802873 AI133410 BF739986 
    AW444557 BX648994 BM671546 CD721848 BC006264 AA769581 BX357314 CA392907 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COBLL1 (see all 9)    About this scheme

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

    ExUns: 18 ^ 19a · 19b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for COBLL1

    (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)
    About This Section

    TryGeneCards Plus

    COBLL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACTCTTGT
    COBLL1 Expression
    About this image


    COBLL1 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
     
     Placenta (Extraembryonic Tissues)
             Syncytiotrophoblast-like cells
     
     Kidney (Urinary System)
             Ureteric Bud Tip Cells Ureteric Bud
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
     
     Testis (Reproductive System)
    COBLL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COBLL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.470457
        Custom PCR Arrays for COBLL1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for COBLL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COBLL1
    QuantiTect SYBR Green Assays in human, mouse, rat COBLL1
    QuantiFast Probe-based Assays in human, mouse, rat COBLL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COBLL1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for COBLL1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cobll11 , 5 Cobl-like 11, 5 74.36(n)1
    66.76(a)1
      2 (38.35 cM)5
    3198761  NM_027225.11  NP_081501.11 
     650883505 
    chicken
    (Gallus gallus)
    Aves COBLL11 COBL-like 1 60.45(n)
    50.22(a)
      424182  XM_004942814.1  XP_004942871.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    77(a)
    41(a)
    many → 1
    many → 1
    AAWZ02040982(689-6106)
    GL343214.1(1750932-1871184)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cobll11 cordon-bleu WH2 repeat protein-like 1 54.54(n)
    45.69(a)
      100487213  XM_002939273.2  XP_002939319.2 
    zebrafish
    (Danio rerio)
    Actinopterygii COBLL1 (1 of 2)6
    COBLL1 (2 of 2)6
    cordon-bleu WH2 repeat protein-like 1
    59(a)
    29(a)
    many → 1
    many → 1
    9(51621835-51629141) ENSDARG00000088979
    6(10244574-10276257) ENSDARG00000089858


    ENSEMBL Gene Tree for COBLL1 (if available)
    TreeFam Gene Tree for COBLL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for COBLL1 gene
    COBL2  
    1 SIMAP similar gene for COBLL1 using alignment to 9 protein entries:     COBL1_HUMAN (see all proteins):
    COBL

    Find genes that share paralogs with COBLL1           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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for COBLL1 (see all 3053)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1126443751,2
    C--157516361(+) GAGTT-/ACACACA 1 -- int11Minor allele frequency- AC:0.50CSA 2
    rs1842902331,2
    C--157582423(+) TAACAA/GTGAAA 1 -- us2k10--------
    rs105631011,2
    C--164967485(+) ACACA-/AC/CA 
            
    TTAAA
    1 -- int11NA 2
    rs1127216941,2
    C--165080384(+) GTTTC-/GTTTTTT 1 -- int11Minor allele frequency- GT:0.00CSA 2
    rs123286751,2
    C,F,H--165540800(+) TTTCTT/CATATA 1 -- ds500113Minor allele frequency- C:0.15NS EA NA WA 1884
    rs1914269671,2
    --165540883(+) TAAATC/TAGGGA 1 -- ds50010--------
    rs67407831,2
    C,F--165540937(+) TTTTTT/AAAAAA 1 -- ds50015Minor allele frequency- A:0.10NA WA 244
    rs1835983941,2
    --165540938(+) TTTTTA/TAAAAA 1 -- ds50010--------
    rs1885516101,2
    --165540970(+) GCTTAC/TAACAA 1 -- ds50010--------
    rs752171941,2
    C,F--165540975(+) TAACAA/GCATAA 1 -- ds50011Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for COBLL1 (165510134 - 165700189 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for COBLL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2045841CNV Deletion18987734
    esv2642304CNV Deletion19546169
    esv2661884CNV Deletion23128226
    nsv517875CNV Loss19592680
    nsv875366CNV Loss21882294
    nsv520658CNV Loss19592680
    dgv163e55CNV Gain17911159

    Human Gene Mutation Database (HGMD): COBLL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COBLL1
    DNA2.0 Custom Variant and Variant Library Synthesis for COBLL1

    (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

    TryGeneCards Plus
    OMIM gene information: 610318    OMIM disorders: --


    Find genes that share disorders with COBLL1           About GenesLikeMe

    Genetic Association Database (GAD): COBLL1
    Human Genome Epidemiology (HuGE) Navigator: COBLL1 (2 documents)

    Export disorders for COBLL1 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

    TryGeneCards Plus

    PubMed articles for COBLL1 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with COBLL1)
        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. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (Nature 2010)
    3. Genome-wide association of lipid-lowering response to statins in combined study populations. (PubMed id 20339536)1, 4 Barber M.J....Krauss R.M. (PLoS ONE 2010)
    4. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PubMed id 20468071)1, 4 Dick D.M....Bierut L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (DNA Res. 1999)
    9. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (PubMed id 23563607)1 Berndt S.I....Ingelsson E. (Nat. Genet. 2013)
    10. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. (PubMed id 23754948)1 Randall J.C....Heid I.M. (PLoS Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 22837 HGNC: 23571 AceView: COBLL1 Ensembl:ENSG00000082438 euGenes: HUgn22837
    ECgene: COBLL1 H-InvDB: COBLL1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0977

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for COBLL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for COBLL1 gene:
    Search GeneIP for patents involving COBLL1

    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, 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 inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for COBLL1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for COBLL1  
     OriGene qSTAR qPCR primer pairs in human, mouse for COBLL1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for COBLL1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for COBLL1   OriGene Custom Protein Services for COBLL1  

     
     
     Block miRNA regulation of human, mouse, rat COBLL1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing COBLL1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COBLL1 Predesigned siRNA for gene silencing in human, mouse, rat COBLL1
     QuantiFast Probe-based Assays in human, mouse, rat COBLL1 QuantiTect SYBR Green Assays in human, mouse, rat COBLL1
     Custom PCR Arrays for COBLL1 Search Chromatin IP Primers for COBLL1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COBLL1  Search GeneGlobe Interaction Network for COBLL1
     Regulatory tfbs in COBLL1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for COBLL1 GenScript cDNA clones with any tag delivered in your preferred vector for COBLL1
     GenScript Custom Assay Services for COBLL1 GenScript Custom overexpressing Cell Line Services for COBLL1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for COBLL1 (COBL1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for COBLL1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     COBLL1 antibodies
     COBLL1 lysates
     Antibodies for COBLL1
     See all of Abcam's Antibodies, Kits and Proteins for COBLL1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for COBLL1
     Antibodies for COBLL1
     ELISAs for COBLL1
     CLIAs for COBLL1



     Browse ESI BIO Cell Lines and PureStem Progenitors for COBLL1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COBLL1
     SwitchGear 3'UTR luciferase reporter plasmids for COBLL1
     SwitchGear Promoter luciferase reporter plasmids for COBLL1
     Search ThermoFisher Antibodies for COBLL1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COBLL1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COBLL1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COBLL1
     LSBio Antibodies in human, mouse, rat for COBLL1
     Browse compounds at ApexBio
     Search Addgene for plasmids for COBLL1
      Search eBioscience for proteins for COBLL1
      Search eBioscience for elisas for COBLL1
      eBioscience FlowRNA Probe Sets
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     antibodies-online antibodies for COBLL1 (24 products)
     antibodies-online kits for COBLL1 (4 products)
     antibodies-online peptides for COBLL1
      Search antibodies-online for proteins for COBLL1
           
    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

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      COBLL1 gene at Home site.
    Version: 3.12.234 23 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4