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

CHD2 Gene

protein-coding   GIFtS: 62
GCID: GC15P094240

Chromodomain Helicase DNA Binding Protein 2

  See related diseases
at  

(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

Aliases
Chromodomain Helicase DNA Binding Protein 21 2     Chromodomain-Helicase-DNA-Binding Protein 22
CHD-22 3     EC 3.6.4.123
ATP-Dependent Helicase CHD22 3     EC 3.6.18
EEOC2     

External Ids:    HGNC: 19171   Entrez Gene: 11062   Ensembl: ENSG000001735757   OMIM: 6021195   UniProtKB: O146473   

Export aliases for CHD2 gene to outside databases

Previous GC identifers: GC15P089886 GC15P087276 GC15P091030 GC15P091173 GC15P091244 GC15P093443 GC15P069580 GC15P093533 GC15P093924


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

Entrez Gene summary for CHD2 Gene:
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains
and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin
structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively
spliced transcript variants encoding distinct isoforms have been found for this gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for CHD2 Gene: 
CHD2 (chromodomain helicase DNA binding protein 2) is a protein-coding gene. Diseases associated with CHD2 include choanal atresia, and congenital diaphragmatic hernia. GO annotations related to this gene include ATP-dependent DNA helicase activity and ATP binding. An important paralog of this gene is CHD6.

UniProtKB/Swiss-Prot: CHD2_HUMAN, O14647
Function: Sequence-selective DNA-binding protein (By similarity)

Gene Wiki entry for CHD2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010274.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHD2 gene promoter:
         E2F-4   E2F-3a   E2F-5   Pax-5   Pbx1a   E2F-2   E2F-1   E2F   PPAR-gamma2   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHD2


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

Entrez Gene cytogenetic band: 15q26   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26

CHD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHD2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P094240:  view genomic region     (about GC identifiers)

Start:
93,425,937 bp from pter      End:
93,571,237 bp from pter
Size:
145,301 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CHD2_HUMAN, O14647 (See protein sequence)
Recommended Name: Chromodomain-helicase-DNA-binding protein 2  
Size: 1828 amino acids; 211344 Da
Subcellular location: Nucleus (By similarity)
Secondary accessions: C6G482 Q96IP5
Alternative splicing: 3 isoforms:  O14647-1   O14647-2   O14647-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CHD2: NX_O14647

Explore proteomics data for CHD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14647

  • 4/14 DME Specific Peptides for CHD2 (O14647) (see all 14)
     DEAHRLK  RAHRIGQ  TGTPLQN  ERMRPVK 

    CHD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHD2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001036037.1  NP_001262.3  

    ENSEMBL proteins: 
     ENSP00000451964   ENSP00000377747   ENSP00000451366   ENSP00000406581   ENSP00000443618  
     ENSP00000457493   ENSP00000464078   ENSP00000462080   ENSP00000451539  

    Human Recombinant Protein Products for CHD2: 
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    Novus Biologicals CHD2 Protein
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    Cloud-Clone Corp. Proteins for CHD2 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    CHD2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (see all 9):
     IPR000953 Chromo_domain/shadow
     IPR000330 SNF2_N
     IPR023780 Chromo_domain
     IPR016197 Chromodomain-like
     IPR023779 Chromodomain_CS

    Graphical View of Domain Structure for InterPro Entry O14647

    ProtoNet protein and cluster: O14647

    3 Blocks protein domains:
    IPB000330 SNF2 related domain
    IPB000953 Chromo domain
    IPB002464 ATP-dependent helicase


    UniProtKB/Swiss-Prot: CHD2_HUMAN, O14647
    Similarity: Belongs to the SNF2/RAD54 helicase family
    Similarity: Contains 2 chromo domains
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    CHD2 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHD2_HUMAN, O14647
    Function: Sequence-selective DNA-binding protein (By similarity)
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for CHD2:
    DNA binding protein with two chromatin organization (chromo) domains,and a helicase domain,2,component of the
    chromatin remodeling complex

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0004003ATP-dependent DNA helicase activity TAS9326634
    GO:0004386helicase activity ----
    GO:0005524ATP binding IEA--
         
    CHD2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CHD2:
     Upregulation of Wnt/beta-caten 

         15/17 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chd2) (see all 17):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  muscle  renal/urinary system  respiratory system 

    CHD2 for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHD2 
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    SwitchGear 3'UTR luciferase reporter plasmidCHD2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CHD2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for CHD2
        Chromatin Regulation / Acetylation



    CHD2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/115 Interacting proteins for CHD2 (O146473 ENSP000003777474) via UniProtKB, MINT, STRING, and/or I2D (see all 115)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=5 
    HIST1H4BP628053I2D: score=5 
    HIST1H4CP628053I2D: score=5 
    HIST1H4DP628053I2D: score=5 
    HIST1H4EP628053I2D: score=5 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS9326634

    CHD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 CHD2

    Search CenterWatch for drugs/clinical trials and news about CHD2

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHD2 gene (2 alternative transcripts): 
    NM_001042572.2  NM_001271.3  

    Unigene Cluster for CHD2:

    Chromodomain helicase DNA binding protein 2
    Hs.220864  [show with all ESTs]
    Unigene Representative Sequence: NM_001271
    18/28 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000557682(uc021svn.1 uc021svo.1) ENST00000553829 ENST00000556895
    ENST00000554669 ENST00000554894 ENST00000557147 ENST00000556722 ENST00000554133(uc021svp.1)
    ENST00000555227 ENST00000556930(uc002bsm.2) ENST00000555520 ENST00000394196(uc002bsp.3)
    ENST00000557381(uc002bso.1 uc010bog.1 uc010boh.1) ENST00000309818(uc010bof.1)
    ENST00000554771 ENST00000420239(uc002bsn.3) ENST00000554122 ENST00000536619(uc010urb.2)

    miRNA
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    8/65 QIAGEN miScript miRNA Assays for microRNAs that regulate CHD2 (see all 65):
    hsa-miR-300 hsa-miR-15a hsa-miR-200a hsa-miR-629* hsa-miR-383 hsa-miR-3116 hsa-miR-200b hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidCHD2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF006514.1 AK095933.1 AK292850.1 AK295909.1 AL831836.1 AY429527.1 AY429528.1 BC007347.2 
    BC020810.1 BC047036.1 BC107885.1 BT007050.1 BX537626.1 DQ088985.1 DQ088986.1 

    24/34 DOTS entries (see all 34):

    DT.100790972  DT.117856  DT.446753  DT.101980110  DT.99986571  DT.100790974  DT.121015088  DT.92030314 
    DT.86849583  DT.95277798  DT.425664  DT.97795333  DT.121015159  DT.121014996  DT.91684353  DT.92426245 
    DT.92426248  DT.92448728  DT.100024532  DT.100024533  DT.100717033  DT.121015036  DT.121015109  DT.40259495 

    24/246 AceView cDNA sequences (see all 246):

    AW341544 BF445607 CD366700 BQ000695 AI679237 AI376863 AI192651 BU848955 
    BU630151 BT007050 BU634384 AA371364 AI383601 CN478607 BF109187 AA371331 
    AI718741 BC007347 AA478529 BF445982 BU076099 BX487907 NM_001271 AA342004 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CHD2 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:              -                                                                                                                                             
    SP2:                                                                                                        -     -                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for CHD2

    (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

    CHD2 expression in normal human tissues (normalized intensities)      CHD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAAGGGTCC
    CHD2 Expression
    About this image


    CHD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             neutrophils   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See CHD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHD2

    SOURCE GeneReport for Unigene cluster: Hs.220864
        SABiosciences Expression via Pathway-Focused PCR Array including CHD2: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD2

    (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 eukaryotes.

    Orthologs for CHD2 gene from 10/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chd21 , 5 chromodomain helicase DNA binding protein 21, 5 90.24(n)1
    96.5(a)1
      7 (41.85 cM)5
    2440591  NM_001081345.21  NP_001074814.21 
     734266915 
    chicken
    (Gallus gallus)
    Aves CHD21 chromodomain helicase DNA binding protein 2 80.61(n)
    89.46(a)
      415507  XM_413879.3  XP_413879.3 
    lizard
    (Anolis carolinensis)
    Reptilia CHD26
    Uncharacterized protein
    81(a)
    1 ↔ 1
    GL343392.1(882188-947446)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.33422 Xenopus laevis transcribed sequence with moderate similarity more 78.47(n)    48047023 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.152422 Transcribed sequence with moderate similarity to protein more 77.46(n)    BM156218.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Chd11 , 3 chromatin binding3
    Chromodomain-helicase-DNA-binding protein 11
    54(a)3
    53.02(n)1
    49.59(a)1
      2 23C43
    335051  NM_057849.41  NP_477197.11 
    worm
    (Caenorhabditis elegans)
    Secernentea H06O01.23 chromodomain-helicase-DNA-biniding
    protein
    53(a)   I(7017609-7023274)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CHD11 Chd1p 48.26(n)
    38.75(a)
      856911   NP_011091.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CHR51 chromatin remodeling 5 49.66(n)
    43.41(a)
      815823  NM_126926.4  NP_178970.3 
    rice
    (Oryza sativa)
    Liliopsida NM_186008.12   -- 74.5(n)    NM_186008.1 


    ENSEMBL Gene Tree for CHD2 (if available)
    TreeFam Gene Tree for CHD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHD2 gene
    CHD62  CHD52  CHD92  CHD42  CHD12  CHD72  CHD82  CHD32  
    11 SIMAP similar genes for CHD2 using alignment to 8 protein entries:     CHD2_HUMAN (see all proteins):
    DKFZp781D1727    CHD5    CHD9    CHD1    SMARCA4    SMARCA5
    CHD1L    DKFZp434P202    HELLS    DKFZp434K213    SMARCA1

    CHD2 for paralogs           About GeneDecksing



    (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) 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

    10/2853 SNPs in CHD2 are shown (see all 2853)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs358955091,2
    C--69608229(+) TACTC-/ATT   
       
    /ATTT
    TTAAA
    4 -- int1 cds12NA NS 10
    rs30647881,2
    C--69609758(+) AAAGT-/CAAGT/
    CAGGT
    /GT
    ACTTA
    2 -- int10--------
    rs559254231,2
    --69620721(+) ATATAA/TATATA 2 -- int10--------
    rs351991801,2
    C--69670811(+) TTATG-/ACACAGT 1 -- int10--------
    rs339679291,2
    C--69677620(+) GGCAG-/CTTCAA 1 -- int10--------
    rs1488521201,2
    C--69682744(+) GCAAC-/CAAC  
            
    GTAGG
    1 -- int10--------
    rs1473807901,2
    C--69690062(+) GGAAA-/TTTTTTTT 1 -- int10--------
    rs341635291,2
    C--69690080(+) TTTTT-/T/TTT 
            
    AAATG
    1 -- int11NA 2
    rs1451739421,2
    --73164677(+) ACTCAA/GTGGGT 2 -- us2k10--------
    rs1491478791,2
    --73164693(+) TAGAAC/TCTGAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CHD2 (93425937 - 93571237 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for CHD2 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1475283CNV Deletion17803354
    esv2567952CNV Deletion19546169
    esv2750049CNV Deletion23290073
    esv4137CNV Deletion18987735
    esv1010129CNV Deletion20482838
    esv2229244CNV Deletion18987734
    esv268591CNV Insertion20981092
    nsv523617CNV Loss19592680
    nsv520601CNV Loss19592680
    esv9274CNV Loss19470904


    Human Gene Mutation Database (HGMD): CHD2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CHD2
    DNA2.0 Custom Variant and Variant Library Synthesis for CHD2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602119    OMIM disorders: --

    6 diseases for CHD2:    About MalaCards
    choanal atresia    congenital diaphragmatic hernia    hernia    scoliosis
    coloboma    hodgkin's lymphoma

    1 disease from the University of Copenhagen DISEASES database for CHD2:
    Choanal atresia

    CHD2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CHD2
    Human Genome Epidemiology (HuGE) Navigator: CHD2 (2 documents)

    Export disorders for CHD2 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 CHD2 gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with CHD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the CHD family of proteins. (PubMed id 9326634)1, 2, 3 Woodage T.... Collins F.S. (1997)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)1, 2 Zody M.C....Nusbaum C. (2006)
    4. Loci associated with N-glycosylation of human immunogl obulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (2013)
    5. Targeted resequencing in epileptic encephalopathies id entifies de novo mutations in CHD2 and SYNGAP1. (PubMed id 23708187)1 Carvill G.L....Mefford H.C. (2013)
    6. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1106 HGNC: 1917 AceView: CHD2 Ensembl:ENSG00000173575 euGenes: HUgn1106
    ECgene: CHD2 H-InvDB: CHD2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHD2 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 CHD2 gene:
    Search GeneIP for patents involving CHD2

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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