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CBWD2 Gene

protein-coding   GIFtS: 41
GCID: GC02P114196

COBW Domain Containing 2

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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
COBW Domain Containing 21 2
Cobalamin Synthase W Domain-Containing Protein 22 3
Cobalamin Synthetase W Domain-Containing Protein 22
COBW Domain-Containing Protein 22

External Ids:    HGNC: 179071   Entrez Gene: 1504722   Ensembl: ENSG000001366827   OMIM: 6110795   UniProtKB: Q8IUF13   

Export aliases for CBWD2 gene to outside databases

Previous GC identifers: GC00U991146 GC02U900009 GC02P114102 GC02P114290 GC02P113912 GC02P114188


(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 CBWD2 Gene:
CBWD2 (COBW domain containing 2) is a protein-coding gene. An important paralog of this gene is CBWD6.


(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 CBWD2 gene promoter:
         Pax-6   GCNF   ATF-2   HNF-4alpha2   Cdc5   GATA-1   HNF-4alpha1   GCNF-1   MRF-2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCBWD2 promoter sequence
   Search Chromatin IP Primers for CBWD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CBWD2


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

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q14.1

CBWD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBWD2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P114196:  view genomic region     (about GC identifiers)

Start:
114,195,268 bp from pter      End:
114,253,781 bp from pter
Size:
58,514 bases      Orientation:
plus 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: CBWD2_HUMAN, Q8IUF1 (See protein sequence)
Recommended Name: COBW domain-containing protein 2  
Size: 395 amino acids; 44034 Da
Secondary accessions: Q0VAN3

Explore the universe of human proteins at neXtProt for CBWD2: NX_Q8IUF1

Explore proteomics data for CBWD2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys55, Lys69, Lys113, Lys306, Lys370
  • Modification sites at PhosphoSitePlus

  • See CBWD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_742000.1  
    ENSEMBL proteins: 
     ENSP00000259199   ENSP00000351418   ENSP00000393105   ENSP00000411906   ENSP00000401945  

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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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    3 InterPro protein domains:
     IPR011629 Cbl_biosynth_CobW-like_C
     IPR027417 P-loop_NTPase
     IPR003495 CobW/HypB/UreG_dom

    Graphical View of Domain Structure for InterPro Entry Q8IUF1

    ProtoNet protein and cluster: Q8IUF1

    2 Blocks protein domains:
    IPB003495 Cobalamin synthesis protein/P47K
    IPB011629 Cobalamin synthesis CobW


    UniProtKB/Swiss-Prot: CBWD2_HUMAN, Q8IUF1
    Similarity: Belongs to the CobW family
    Similarity: Contains 1 cobW C-terminal domain


    Find genes that share domains with CBWD2           About GenesLikeMe


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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with CBWD2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CBWD2

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    hsa-mir-375 (MIRT019933)

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    hsa-miR-3611 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidCBWD2 3' UTR sequence
    Inhib. RNA
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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
    peroxisome1

    (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 CBWD2
    Interactions:

        Search GeneGlobe Interaction Network for CBWD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for CBWD2 (Q8IUF11, 2, 3 ENSP000002591994) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ECHS1P300842, 3, ENSP000003575354MINT-63640 I2D: score=4 STRING: ENSP00000357535
    TNFRSF1BP203332, 3MINT-49449 I2D: score=2 
    YWHAQP273481, 3, ENSP000002380814EBI-359159,EBI-359854 I2D: score=2 STRING: ENSP00000238081
    PAN2Q504Q33I2D: score=2 
    ATG2AQ2TAZ03I2D: score=1 
    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 CBWD2



    (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 CBWD2 gene: 
    NM_172003.3  

    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000259199(uc002tju.3 uc010fkv.3) ENST00000358604 ENST00000463627
    ENST00000456188 ENST00000490323(uc002tjt.2) ENST00000492566 ENST00000490446
    ENST00000479583 ENST00000468417 ENST00000416503 ENST00000433343(uc010yxw.2)

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    2 qRT-PCR Assays for microRNAs that regulate CBWD2:
    hsa-miR-3611 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidCBWD2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CBWD2
      QuantiFast Probe-based Assays in human, mouse, rat CBWD2

    Selected AceView cDNA sequences (see all 301):

    AI884457 BQ775348 BX426057 AW102714 AI382135 AA733187 BU508138 T25769 
    AA508679 T30462 CR621231 BM452484 W02142 BE162015 BI711184 AA724156 
    AY343910 BQ959562 BM826452 BX436906 AI868222 CA306465 AF452722 AA917470 

    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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    CBWD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CBWD2 Expression
    About this image

    CBWD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CBWD2 Protein Expression
        Custom PCR Arrays for CBWD2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBWD2

    (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 eukaryotes.

    Orthologs for CBWD2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CBWD16
    COBW domain-containing protein 1
    73(a)
    1 → many
    Z(25552426-25574010) ENSGALG00000010147
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    72(a)
    1 → many
    2(49999445-50023007)
    zebrafish
    (Danio rerio)
    Actinopterygii cbwd6
    COBW domain containing
    72(a)
    1 → many
    8(31273742-31298114) ENSDARG00000004318
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Putative protein of unknown function, deletion con...
    32(a)
    1 → many
    XIV(677199-678488) YNR029C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G157301 AT1G15730 52.12(n)
    42.11(a)
      838142  NM_101441.4  NP_173025.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g05997001 Os04g0599700 51.02(n)
    40.55(a)
      4336869  NM_001060288.1  NP_001053753.1 
            Species with no ortholog for CBWD2

    ENSEMBL Gene Tree for CBWD2 (if available)
    TreeFam Gene Tree for CBWD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CBWD2 gene
    CBWD62  CBWD32  CBWD12  CBWD72  CBWD52  
    5 SIMAP similar genes for CBWD2 using alignment to 5 protein entries:     CBWD2_HUMAN (see all proteins):
    CBWD5    CBWD7    CBWD1    CBWD6    CBWD3

    Find genes that share paralogs with CBWD2           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 CBWD2 (see all 552)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs39613201,2
    C--114193272(+) tgagaC/Tcctgt 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs764524371,2
    C--114193547(+) AGGGCG/ATAAGC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs2019186081,2
    C--114193678(+) AGCTGA/GCAAAG 1 -- us2k10--------
    rs1899744411,2
    --114193819(+) ATCAGC/TAGAAC 1 -- us2k10--------
    rs1816854871,2
    --114194496(+) ATGAAA/GCTCAA 1 -- us2k10--------
    rs1159848991,2
    C,F--114194530(+) ATTCTG/CTAAGT 1 -- us2k13Minor allele frequency- C:0.34WA NA EA 358
    rs1427413651,2
    C--114194653(+) TGCACA/GTAGGT 1 -- us2k10--------
    rs2009479771,2
    C--114194782(+) AAATAC/TGATTA 1 -- us2k10--------
    rs1440702301,2
    F--114195535(+) CAAAGC/TGAGGA 2 S syn11Minor allele frequency- T:0.00NA 4552
    rs1406350181,2
    F--114195580(+) GTCACA/GATTAT 2 T syn11Minor allele frequency- G:0.00NA 4540

    HapMap Linkage Disequilibrium report for CBWD2 (114195268 - 114253781 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CBWD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv10130CNV Gain18304495
    esv28287CNV Gain19812545
    nsv874903CNV Gain21882294
    nsv874902CNV Gain21882294
    nsv834334CNV Gain17160897
    esv380CNV CNV17122850
    essv901CNV CNV17122850
    dgv1240e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 611079    OMIM disorders: --


    Find genes that share disorders with CBWD2           About GenesLikeMe


    Export disorders for CBWD2 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 CBWD2 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with CBWD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Diverse fates of paralogs following segmental duplication of telomeric genes. (PubMed id 15233989)1, 2, 3 Wong A.... Ledbetter D.H. (Genomics 2004)
    2. Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. (PubMed id 12421752)1, 2, 3 Fan Y.... Trask B.J. (Genome Res. 2002)
    3. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    7. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    8. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 2009)
    9. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M....Figeys D. (Mol. Syst. Biol. 2007)
    10. 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)

    (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: 150472 HGNC: 17907 AceView: CBWD2 Ensembl:ENSG00000136682 euGenes: HUgn150472
    ECgene: CBWD2 H-InvDB: CBWD2

    (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 CBWD2 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 CBWD2 gene:
    Search GeneIP for patents involving CBWD2

    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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