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CHD6 Gene

protein-coding   GIFtS: 52
GCID: GC20M040030

Chromodomain Helicase DNA Binding Protein 6

  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)
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Aliases
Chromodomain Helicase DNA Binding Protein 61 2     Chromodomain-Helicase-DNA-Binding Protein 62
Radiation-Induced Gene B Protein2 3     Helicase C-Terminal Domain- And SNF2 N-Terminal Domain-Containing Protein2
CHD-62 3     EC 3.6.4.123
CHD52 3     KIAA13353
RIGB2 3     CHCHCM15
ATP-Dependent Helicase CHD62 3     EC 3.6.18

External Ids:    HGNC: 190571   Entrez Gene: 841812   Ensembl: ENSG000001241777   OMIM: 6156345   UniProtKB: Q8TD263   

Export aliases for CHD6 gene to outside databases

Previous GC identifers: GC20M039721 GC20M040669 GC20M040716 GC20M039464 GC20M036768


(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 CHD6 Gene:
This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two
chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin
to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member
of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional
repressor and is involved in the cellular repression of influenza virus replication. (provided by RefSeq, Jul
2013)

GeneCards Summary for CHD6 Gene:
CHD6 (chromodomain helicase DNA binding protein 6) is a protein-coding gene. Diseases associated with CHD6 include pitt-hopkins syndrome, and influenza. GO annotations related to this gene include chromatin binding and ATP-dependent helicase activity. An important paralog of this gene is CHD5.

UniProtKB/Swiss-Prot: CHD6_HUMAN, Q8TD26
Function: Probable transcription regulator




(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 CHD6 gene promoter:
         TBP   ER-alpha   E2F-4   E2F-3a   E2F-5   E2F-2   Evi-1   E2F   E2F-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHD6 promoter sequence
   Search Chromatin IP Primers for CHD6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHD6


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

Entrez Gene cytogenetic band: 20q12   Ensembl cytogenetic band:  20q12   HGNC cytogenetic band: 20q12

CHD6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHD6 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M040030:  view genomic region     (about GC identifiers)

Start:
40,030,741 bp from pter      End:
40,247,133 bp from pter
Size:
216,393 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CHD6_HUMAN, Q8TD26 (See protein sequence)
Recommended Name: Chromodomain-helicase-DNA-binding protein 6  
Size: 2715 amino acids; 305412 Da
Sequence caution: Sequence=AAK56405.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAN59903.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15325.1;
Type=Miscellaneous discrepancy; Note=The sequence differs from position 1528 onward for unknown reasons;
Sequence=CAI21743.1; Type=Erroneous gene model prediction; Sequence=CAI22254.1; Type=Erroneous gene model
prediction;
1 PDB 3D structure from and Proteopedia for CHD6:
2EPB (3D)    
Secondary accessions: Q5JYQ0 Q5TGZ9 Q5TH00 Q5TH01 Q8IZR2 Q8WTY0 Q9H4H6 Q9H6D4 Q9NTT7 Q9P2L1
Alternative splicing: 3 isoforms:  Q8TD26-1   Q8TD26-2   Q8TD26-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CHD6: NX_Q8TD26

Explore proteomics data for CHD6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CHD6 (Q8TD26) (see all 37)
     GIHGPFL  GAEEKIL  DSDWNPQ  KASFVAS 


    See CHD6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115597.3  
    ENSEMBL proteins: 
     ENSP00000362330   ENSP00000404637   ENSP00000362319   ENSP00000392503   ENSP00000308684  

    CHD6 Human Recombinant Protein Products:

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    OriGene Custom Protein Services for CHD6
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHD6

    CHD6 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals CHD6 Antibody
    Abcam antibodies for CHD6
    Cloud-Clone Corp. Antibodies for CHD6
    Search ThermoFisher Antibodies for CHD6
    LSBio Antibodies in human, mouse, rat for CHD6

    CHD6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for CHD6


    (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 10):
     IPR000953 Chromo_domain/shadow
     IPR000330 SNF2_N
     IPR001005 SANT/Myb
     IPR023780 Chromo_domain
     IPR002464 DNA/RNA_helicase_DEAH_CS

    Graphical View of Domain Structure for InterPro Entry Q8TD26

    ProtoNet protein and cluster: Q8TD26

    4 Blocks protein domains:
    IPB000330 SNF2 related domain
    IPB000953 Chromo domain
    IPB002464 ATP-dependent helicase
    IPB006576 Domain in transcription and CHROMO domain helicase


    UniProtKB/Swiss-Prot: CHD6_HUMAN, Q8TD26
    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


    CHD6 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHD6_HUMAN, Q8TD26
    Function: Probable transcription regulator
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding NAS12592387
    GO:0004386helicase activity ----
    GO:0005515protein binding ----
         
    CHD6 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Chd6):
     behavior/neurological  no phenotypic analysis 

    CHD6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chd6tm1.2Fier for CHD6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHD6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CHD6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHD6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHD6

    miRNA
    Products:
        
    miRTarBase miRNAs that target CHD6:
    hsa-mir-335-5p (MIRT016929)

    Block miRNA regulation of human, mouse, rat CHD6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHD6 (see all 45):
    hsa-miR-15a hsa-miR-374a hsa-miR-650 hsa-miR-218 hsa-miR-424 hsa-miR-3613-3p hsa-miR-3612 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidCHD6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CHD6
    Predesigned siRNA for gene silencing in human, mouse, rat CHD6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CHD6

    Clone
    Products:
         
    OriGene clones in human, mouse for CHD6 (see all 6)
    OriGene ORF clones in mouse, rat for CHD6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHD6 (NM_032221)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHD6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHD6

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CHD6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD6


    (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
    CHD6_HUMAN, Q8TD26: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS12592387

    CHD6 for ontologies           About GeneDecksing


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including CHD6: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CHD6

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

    Selected Interacting proteins for CHD6 (Q8TD262, 3 ENSP000003623304) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZFYVE9O954052, 3MINT-62050 I2D: score=3 
    NFE2L2Q162363, ENSP000003802524I2D: score=1 STRING: ENSP00000380252
    CHD3Q128733, ENSP000003697164I2D: score=1 STRING: ENSP00000369716
    ARAFP103983, ENSP000003662444I2D: score=3 STRING: ENSP00000366244
    TOLLIPQ9H0E23, ENSP000003147334I2D: score=3 STRING: ENSP00000314733
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006338chromatin remodeling NAS12592387
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated NAS12592387
    GO:0007399nervous system development NAS12592387

    CHD6 for ontologies           About GeneDecksing



    (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 CHD6



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CHD6 gene: 
    NM_032221.4  

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373233(uc002xjz.1 uc002xkb.1 uc002xka.1 uc002xkd.2)
    ENST00000480022 ENST00000440697 ENST00000476641 ENST00000470470 ENST00000373222(uc002xkc.3)
    ENST00000482596 ENST00000440647 ENST00000309279
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CHD6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHD6 (see all 45):
    hsa-miR-15a hsa-miR-374a hsa-miR-650 hsa-miR-218 hsa-miR-424 hsa-miR-3613-3p hsa-miR-3612 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidCHD6 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CHD6
    Predesigned siRNA for gene silencing in human, mouse, rat CHD6
    Clone
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    OriGene clones in human, mouse for CHD6 (see all 6)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHD6 (NM_032221)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHD6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHD6
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CHD6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHD6
      QuantiTect SYBR Green Assays in human, mouse, rat CHD6
      QuantiFast Probe-based Assays in human, mouse, rat CHD6

    Selected AceView cDNA sequences (see all 208):

    AA687157 AI685138 AI056915 BE674356 BM723141 NM_032221 AA293517 BM672200 
    CA433577 AA410276 AL705972 AI278680 BP345468 AA456300 BU619922 AL708180 
    BM973992 BC039860 AI674871 BG059766 AK098144 BM849436 CD676498 AI261438 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CHD6 (see all 8)    About this scheme

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

    ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40a · 40b
    SP1:                                                                                                              -                           
    SP2:                                                                                                                                          
    SP3:                                                                                                                                          
    SP4:                                                                                                                                          
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for CHD6

    (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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    CHD6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGAAAAAA
    CHD6 Expression
    About this image

    CHD6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHD6 Protein Expression

    UniProtKB/Swiss-Prot: CHD6_HUMAN, Q8TD26
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including CHD6: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CHD6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHD6
    QuantiTect SYBR Green Assays in human, mouse, rat CHD6
    QuantiFast Probe-based Assays in human, mouse, rat CHD6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD6

    (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 animals.

    Orthologs for CHD6 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chd61 , 5 chromodomain helicase DNA binding protein 61, 5 87.48(n)1
    88.84(a)1
      2 (80.98 cM)5
    713891  NM_173368.21  NP_775544.21 
     1609469785 
    chicken
    (Gallus gallus)
    Aves CHD61 chromodomain helicase DNA binding protein 6 72.48(n)
    75.3(a)
      419127  XM_004946871.1  XP_004946928.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHD66
    chromodomain helicase DNA binding protein 6
    68(a)
    1 ↔ 1
    4(134972594-135042555)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.162572 Xenopus laevis transcribed sequences 76.16(n)    BJ068564.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chd61 chromodomain helicase DNA binding protein 6 66.1(n)
    68.84(a)
      570753  XM_694268.6  XP_699360.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta kis6
    kismet
    18(a)
    1 → many
    2L(210735-250823)
    worm
    (Caenorhabditis elegans)
    Secernentea chd-76
    Protein CHD-7 (chd-7) mRNA, complete cds
    25(a)
    1 → many
    I(4685868-4698575) WBGene00007053


    ENSEMBL Gene Tree for CHD6 (if available)
    TreeFam Gene Tree for CHD6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHD6 gene
    CHD52  CHD92  CHD42  CHD12  CHD72  CHD82  CHD32  CHD22  
    4 SIMAP similar genes for CHD6 using alignment to 3 protein entries:     CHD6_HUMAN (see all proteins):
    CHD8    CHD9    CHD7    HELLS

    CHD6 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), 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 CHD6 (see all 4380)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1499705721,2
    Cuntested136856269(+) GGGGCA/GATAAT 2 I syn10--------
    rs1453541661,2
    --36768717(+) AGAAGC/TCTGAA 1 -- ds50010--------
    rs1900108221,2
    --36768745(+) TACAGA/TTTCCA 1 -- ds50010--------
    rs1476579311,2
    C--36768829(+) AGGTTA/GTAAGT 1 -- ds50010--------
    rs26645461,2
    C--36768892(+) ACAAAA/GAAAAC 1 -- ut310--------
    rs60653491,2
    H--36768948(+) CAAGAT/CACAGG 1 -- ut31 ese34Minor allele frequency- C:0.00NS EA 420
    rs10477721,2
    C,F,H--36769010(-) TATCAA/CGTAGA 1 -- ut3117Minor allele frequency- C:0.11MN NS EA NA WA 2516
    rs1822857261,2
    C--36769209(+) TTATAA/GACCAT 1 -- ut310--------
    rs1144249561,2
    C,F--36769232(+) GATGTC/TATTAA 1 -- ut311Minor allele frequency- T:0.03WA 118
    rs119060441,2
    C,H--36769392(+) TGCTCG/ATTTTA 1 -- ut311Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for CHD6 (40030741 - 40247133 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CHD6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2460578CNV Deletion19546169
    nsv3382CNV Insertion18451855
    esv268315CNV Insertion20981092
    nsv510786CNV Loss20534489
    nsv3381CNV Loss18451855
    nsv833984CNV Loss17160897
    nsv178957CNV Loss16902084

    Human Gene Mutation Database (HGMD): CHD6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHD6
    DNA2.0 Custom Variant and Variant Library Synthesis for CHD6

    (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: 615634    OMIM disorders: --

    7 diseases for CHD6:    
    About MalaCards
    pitt-hopkins syndrome    influenza    developmental coordination disorder    brachydactyly
    brain cancer    mental retardation    ataxia

    1 disease from the University of Copenhagen DISEASES database for CHD6:
    Developmental coordination disorder

    CHD6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CHD6
    Human Genome Epidemiology (HuGE) Navigator: CHD6 (2 documents)

    Export disorders for CHD6 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 CHD6 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with CHD6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CHD5 defines a new subfamily of chromodomain-SWI2/SNF2-like helicases. (PubMed id 11889561)1, 2, 3 Schuster E.F. and Stoeger R.J. (Mamm. Genome 2002)
    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. (Mol. Med. 2010)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    7. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    8. CHD6, a cellular repressor of influenza virus replication, is degraded in human alveolar epithelial cells and mice lungs during infection. (PubMed id 23408615)1 Alfonso R....Nieto A. (J. Virol. 2013)
    9. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)
    10. Multiple loci influencing hippocampal degeneration identified by genome scan. (PubMed id 22745009)1 Melville S.A....Farrer L.A. (Ann. Neurol. 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: 84181 HGNC: 19057 AceView: CHD6 Ensembl:ENSG00000124177 euGenes: HUgn84181
    ECgene: CHD6 H-InvDB: CHD6

    (According to HUGE)
    About This Section

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    HUGE: KIAA1335

    (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 CHD6 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 CHD6 gene:
    Search GeneIP for patents involving CHD6

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



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