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CHD2 Gene

protein-coding   GIFtS: 63
GCID: GC15P094584

Chromodomain Helicase DNA Binding Protein 2

  See CHD2-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)
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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 5     

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 GC15P094240


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 myoclonic-astastic epilepsy, and epileptic encephalopathy, childhood-onset. GO annotations related to this gene include ATP-dependent DNA helicase activity. An important paralog of this gene is CHD6.

UniProtKB/Swiss-Prot: CHD2_HUMAN, O14647
Function: DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin
remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1:
binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of
myogenic gene expression, promoting their expression (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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   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 Chromatin IP Primers for CHD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC15P094584:  view genomic region     (about GC identifiers)

Start:
93,426,526 bp from pter      End:
93,571,237 bp from pter
Size:
144,712 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: CHD2_HUMAN, O14647 (See protein sequence)
Recommended Name: Chromodomain-helicase-DNA-binding protein 2  
Size: 1828 amino acids; 211344 Da
Subunit: Interacts with MYOD1. Interacts with histone H3.3 (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: 

  • Ubiquitination2 at Lys1062
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CHD2 (O14647) (see all 14)
     DEAHRLK  RAHRIGQ  TGTPLQN  ERMRPVK 


    See CHD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

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

    CHD2 Human Recombinant Protein Products:

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    Novus Biologicals CHD2 Protein
    Novus Biologicals CHD2 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHD2

     
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    antibodies-online proteins for CHD2 (2 products) 

     
    antibodies-online peptides for CHD2

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    antibodies-online antibodies for CHD2 (14 products) 

    CHD2 Assay Products:

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    Cloud-Clone Corp. ELISAs for CHD2
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    Search eBioscience for ELISAs for CHD2 
    antibodies-online kits for CHD2 (2 products) 


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


    Find genes that share domains with CHD2           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHD2_HUMAN, O14647
    Function: DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin
    remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1:
    binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of
    myogenic gene expression, promoting their expression (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): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001046core promoter sequence-specific DNA binding ISS--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding TAS9326634
    GO:0004003ATP-dependent DNA helicase activity TAS9326634
    GO:0004386helicase activity ----
         
    Find genes that share ontologies with CHD2           About GenesLikeMe


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

         Selected 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/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  muscle  renal/urinary system  respiratory system 

    Find genes that share phenotypes with CHD2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CHD2

    miRNA
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    miRTarBase miRNAs that target CHD2:
    hsa-mir-378a-5p (MIRT043970), hsa-mir-196b-5p (MIRT042664), hsa-mir-450a-5p (MIRT042397)

    Block miRNA regulation of human, mouse, rat CHD2 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat CHD2

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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 UniProtKB/Swiss-Prot
    CHD2_HUMAN, O14647: Nucleus (By similarity). Note=Binds to myogenic gene promoters (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3

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

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

    Find genes that share ontologies with CHD2           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).
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    SuperPaths for CHD2 About    
    See pathways by source

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


    Find genes that share SuperPaths with CHD2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


        Pathway & Disease-focused RT2 Profiler PCR Array including CHD2: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CHD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CHD2 (O146473 ENSP000003777474) via UniProtKB, MINT, STRING, and/or I2D (see all 178)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4HP628053, ENSP000002893524I2D: score=5 STRING: ENSP00000289352
    HIST1H4FP628053, ENSP000003669744I2D: score=5 STRING: ENSP00000366974
    HIST1H4AP628053I2D: score=5 
    HIST1H4BP628053I2D: score=5 
    HIST1H4CP628053I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS9326634
    GO:0006974cellular response to DNA damage stimulus IEA--
    GO:0007517muscle organ development ISS--
    GO:0016568chromatin modification IEA--

    Find genes that share ontologies with CHD2           About GenesLikeMe



    (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 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,
    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 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
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000556722 ENST00000556930(uc002bsm.2) ENST00000394196(uc002bsp.3)
    ENST00000557381(uc002bso.1 uc010bog.1 uc010boh.1) ENST00000309818(uc010bof.1)
    ENST00000554771 ENST00000420239(uc002bsn.3) ENST00000554122 ENST00000536619(uc010urb.2)
    ENST00000556270 ENST00000553323 ENST00000555753 ENST00000555582 ENST00000557116
    ENST00000557340 ENST00000553402 ENST00000554828 ENST00000582447
    miRNA
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    Block miRNA regulation of human, mouse, rat CHD2 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat CHD2
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    GenScript: all cDNA clones in your preferred vector (see all 2): CHD2 (NM_001042572)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHD2
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      QuantiFast Probe-based Assays in human, mouse, rat CHD2

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 246):

    CN478607 AW341544 BX499837 BF941795 AA384850 AA342004 AA478529 AI635076 
    BF109187 BF116059 BF197825 AW168274 CN480693 AF006514 BX487907 BT007050 
    NM_001271 AI383601 BU072111 BC020810 AI066439 AI192651 AI017233 CB155469 

    GeneLoc Exon Structure

    Selected 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™, 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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    CHD2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Kidney (Urinary System)
             Metanephros
     
     Thymus (Hematopoietic System)
             Thymus
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
    CHD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.220864
        Pathway & Disease-focused RT2 Profiler PCR Array including CHD2: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CHD2 gene from Selected species (see all 19)    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 80.53(n)
    89.4(a)
      415507  XM_413879.4  XP_413879.3 
    lizard
    (Anolis carolinensis)
    Reptilia CHD26
    chromodomain helicase DNA binding protein 2
    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
    53.49(n)1
    50.94(a)1
      2 23C43
    335051  NM_057849.51  NP_477197.11 
    worm
    (Caenorhabditis elegans)
    Secernentea H06O01.23
    chd-11
    chromodomain-helicase-DNA-biniding
    protein3
    chd-11
    53(a)3
    57.03(n)1
    55.77(a)1
      I(7017609-7023274)3
    1724321  NM_059593.61  NP_491994.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CHD16
    Chromatin remodeler that regulates various aspects...
    35(a)
    1 → many
    V(505392-509798) YER164W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CHR51 CHR5 51.4(n)
    46.82(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)
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    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    SMARCA4    CHD1    SMARCA5
    CHD1L    DKFZp434P202    HELLS    DKFZp434K213    SMARCA1

    Find genes that share paralogs with CHD2           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 CHD2 (see all 2855)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0702094
    Epileptic encephalopathy, childhood-onset (EEOC)4--see VAR_0702092 W R mis40--------
    VAR_0702104
    Epileptic encephalopathy, childhood-onset (EEOC)4--see VAR_0702102 L P mis40--------
    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

    HapMap Linkage Disequilibrium report for CHD2 (93426526 - 93571237 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602119   
    OMIM disorders: 615369  
    UniProtKB/Swiss-Prot: CHD2_HUMAN, O14647
  • Epileptic encephalopathy, childhood-onset (EEOC) [MIM:615369]: A severe form of epilepsy characterized by
    onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected
    individuals have cognitive regression and intellectual disability. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 5 diseases for CHD2:    
    About MalaCards
    myoclonic-astastic epilepsy    epileptic encephalopathy, childhood-onset    lennox-gastaut syndrome    choanal atresia
    dravet syndrome

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

    Find genes that share disorders with CHD2           About GenesLikeMe

    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)
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    PubMed articles for CHD2 gene, integrated from 10 sources (see all 31):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    2. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PubMed id 23708187)1, 2 Carvill G.L....Mefford H.C. (Nat. Genet. 2013)
    3. 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)
    4. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)1, 2 Zody M.C....Nusbaum C. (Nature 2006)
    5. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
    6. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. (PubMed id 24207121)1 Suls A....Helbig I. (Am. J. Hum. Genet. 2013)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    9. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. (PubMed id 23020937)1 Rauch A....Strom T.M. (Lancet 2012)
    10. Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C.... Cristea I.M. (Mol. Cell. Proteomics 2012)

    (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: 1106 HGNC: 1917 AceView: CHD2 Ensembl:ENSG00000173575 euGenes: HUgn1106
    ECgene: CHD2 H-InvDB: CHD2

    (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)
    About This Section

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    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

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    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



    (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
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