Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CHD7 Gene

protein-coding   GIFtS: 62
GCID: GC08P061642

Chromodomain Helicase DNA Binding Protein 7

(Previous name: CHARGE association)
(Previous symbol: CRG)
  See CHD7-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

TryGeneCards Plus

Aliases
Chromodomain Helicase DNA Binding Protein 71 2     Chromodomain Helicase DNA Binding Protein 7 Isoform CRA_e2
CRG1 2     Chromodomain-Helicase-DNA-Binding Protein 72
CHARGE Association1 2     CHD-73
ATP-Dependent Helicase CHD72 3     EC 3.6.4.123
HH52 5     KIAA14163
IS32 5     EC 3.6.18
KAL52     

External Ids:    HGNC: 206261   Entrez Gene: 556362   Ensembl: ENSG000001713167   OMIM: 6088925   UniProtKB: Q9P2D13   

Export aliases for CHD7 gene to outside databases

Previous GC identifers: GC00U900988 GC08P061753 GC08P057078


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

TryGeneCards Plus

Entrez Gene summary for CHD7 Gene:
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found
in some patients with the CHARGE syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for CHD7 Gene:
CHD7 (chromodomain helicase DNA binding protein 7) is a protein-coding gene. Diseases associated with CHD7 include chd7-related isolated gonadotropin-releasing hormone deficiency, and hypogonadotropic hypogonadism 5 with or without anosmia. GO annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is CHD6.

UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1
Function: Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production

Gene Wiki entry for CHD7 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_008183.20  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHD7 gene promoter:
         HFH-3   Nkx3-1   AhR   Nkx2-5   Arnt   AREB6   FOXI1   STAT3   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHD7 promoter sequence
   Search Chromatin IP Primers for CHD7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHD7


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

Entrez Gene cytogenetic band: 8q12.2   Ensembl cytogenetic band:  8q12.1   HGNC cytogenetic band: 8q12.2

CHD7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHD7 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P061642:  view genomic region     (about GC identifiers)

Start:
61,591,324 bp from pter      End:
61,780,587 bp from pter
Size:
189,264 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1 (See protein sequence)
Recommended Name: Chromodomain-helicase-DNA-binding protein 7  
Size: 2997 amino acids; 335927 Da
Subunit: May interact with CTCF. Interacts with CHD8
Sequence caution: Sequence=AAH14681.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH14681.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence; Sequence=AAH53890.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH68000.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=AAH80627.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=AAH80627.1; Type=Miscellaneous discrepancy; Note=Potential
poly-A sequence; Sequence=AAI10819.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence;
Sequence=BAA91113.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91116.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for CHD7:
2CKC (3D)        2V0E (3D)        2V0F (3D)    
Secondary accessions: D0VBA5 E9PNZ2 Q05DI5 Q2TAN4 Q66K35 Q7Z6C0 Q7Z7Q2 Q9NXA0 Q9NXA3
Alternative splicing: 4 isoforms:  Q9P2D1-1   Q9P2D1-2   Q9P2D1-3   Q9P2D1-4   (Ubiquitous, expression enriched in lung and large intestine)

Explore the universe of human proteins at neXtProt for CHD7: NX_Q9P2D1

Explore proteomics data for CHD7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys934
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CHD7 (Q9P2D1) (see all 51)
     GIHGPFL  GAEEKIL  DSDWNPQ  KASFVAS 


    See CHD7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060250.2  
    ENSEMBL proteins: 
     ENSP00000392028   ENSP00000436492   ENSP00000437061   ENSP00000436027   ENSP00000432627  
     ENSP00000433336  

    CHD7 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CHD7
    GenScript Custom Purified and Recombinant Proteins Services for CHD7
    Novus Biologicals CHD7 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHD7

     
    Search eBioscience for Proteins for CHD7 

     
    Search antibodies-online for proteins for CHD7 

     
    antibodies-online peptides for CHD7

    CHD7 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CHD7
    R&D Systems Antibodies for CHD7
    Cell Signaling Technology (CST) Antibodies for CHD7  (CHD-7)
    OriGene Antibodies for CHD7
    OriGene Custom Antibody Services for CHD7
    Novus Biologicals CHD7 Antibodies
    Search for Antibodies for CHD7 at Abcam
    Cloud-Clone Corp. Antibodies for CHD7
    Search ThermoFisher Antibodies for CHD7
    antibodies-online antibodies for CHD7 (17 products) 

    CHD7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CHD7
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CHD7
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CHD7
    Cloud-Clone Corp. CLIAs for CHD7
    Search eBioscience for ELISAs for CHD7 
    antibodies-online kits for CHD7 (6 products) 


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

    TryGeneCards Plus
    Selected InterPro protein domains (see all 9):
     IPR000953 Chromo_domain/shadow
     IPR000330 SNF2_N
     IPR001005 SANT/Myb
     IPR023780 Chromo_domain
     IPR016197 Chromodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9P2D1

    ProtoNet protein and cluster: Q9P2D1

    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: CHD7_HUMAN, Q9P2D1
    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 CHD7           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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHD7_HUMAN, Q9P2D1
    Function: Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production
    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 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding TAS17299439
    GO:0004386helicase activity IEA--
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with CHD7           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CHD7:
     Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 17 alleles(MGI details for Chd7) (see all 20):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging 

    Find genes that share phenotypes with CHD7           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Chd7tm1.2Dmm for CHD7

       genOway: Develop your customized and physiologically relevant rodent model for CHD7

    miRNA
    Products:
        
    miRTarBase miRNAs that target CHD7:
    hsa-let-7e-5p (MIRT051570), hsa-mir-877-3p (MIRT037022), hsa-mir-192-5p (MIRT026704), hsa-mir-215-5p (MIRT024848), hsa-mir-454-3p (MIRT039227), hsa-let-7b-5p (MIRT052070), hsa-mir-615-3p (MIRT039664), hsa-mir-98-5p (MIRT027719)

    Block miRNA regulation of human, mouse, rat CHD7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHD7 (see all 117):
    hsa-miR-548j hsa-miR-3607-3p hsa-miR-4272 hsa-miR-15a hsa-miR-938 hsa-miR-485-3p hsa-miR-219-5p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidCHD7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CHD7
    Predesigned siRNA for gene silencing in human, mouse, rat CHD7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CHD7

    Clone
    Products:
         
    OriGene clones in human, mouse for CHD7 (see all 5)
    OriGene ORF clones in mouse, rat for CHD7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHD7 (NM_017780)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHD7
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CHD7

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CHD7
    Browse ESI BIO Cell Lines and PureStem Progenitors for CHD7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD7


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

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CHD7_HUMAN, Q9P2D1: Isoform 1: Nucleus
    CHD7_HUMAN, Q9P2D1: Isoform 3: Nucleus, nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS17299439
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with CHD7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for CHD7 About    
    See pathways by source

    SuperPathContained pathways About
    1Noncanonical Wnt signaling pathway
    Noncanonical Wnt signaling pathway
    2Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation


    Find genes that share SuperPaths with CHD7           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for CHD7
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for CHD7
        Noncanonical Wnt signaling pathway


        Pathway & Disease-focused RT2 Profiler PCR Arrays including CHD7: 
              T Helper Cell Differentiation in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CHD7

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

    Selected Interacting proteins for CHD7 (Q9P2D11, 2, 3 ENSP000003920284) via UniProtKB, MINT, STRING, and/or I2D (see all 659)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PBRM1Q86U862, 3, ENSP000003492134MINT-7945693 I2D: score=1 STRING: ENSP00000349213
    SMARCC2Q8TAQ22, 3, ENSP000002670644MINT-7945693 I2D: score=1 STRING: ENSP00000267064
    SMARCE1Q969G32, 3, ENSP000003239674MINT-7945693 I2D: score=1 STRING: ENSP00000323967
    SMARCC1Q929222, 3, ENSP000002544804MINT-7945693 I2D: score=1 STRING: ENSP00000254480
    NLKQ9UBE83, ENSP000003846254I2D: score=1 STRING: ENSP00000384625
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IMP16155193
    GO:0001568blood vessel development ----
    GO:0001701in utero embryonic development IMP15300250
    GO:0003007heart morphogenesis IMP15300250
    GO:0006351transcription, DNA-templated IEA--

    Find genes that share ontologies with CHD7           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)
    About This Section

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

    Browse Tocris compounds for CHD7



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CHD7 gene: 
    NM_017780.3  

    Unigene Cluster for CHD7:

    Chromodomain helicase DNA binding protein 7
    Hs.20395  [show with all ESTs]
    Unigene Representative Sequence: NM_017780
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000423902(uc003xue.3) ENST00000526846 ENST00000524602 ENST00000525508(uc003xuf.3)
    ENST00000527825 ENST00000527900 ENST00000527921 ENST00000529472 ENST00000531695
    ENST00000532149 ENST00000528280
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CHD7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHD7 (see all 117):
    hsa-miR-548j hsa-miR-3607-3p hsa-miR-4272 hsa-miR-15a hsa-miR-938 hsa-miR-485-3p hsa-miR-219-5p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidCHD7 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CHD7
    Predesigned siRNA for gene silencing in human, mouse, rat CHD7
    Clone
    Products:
         
    OriGene clones in human, mouse for CHD7 (see all 5)
    OriGene ORF clones in mouse, rat for CHD7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHD7 (NM_017780)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHD7
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CHD7
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CHD7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHD7
      QuantiTect SYBR Green Assays in human, mouse, rat CHD7
      QuantiFast Probe-based Assays in human, mouse, rat CHD7

    Additional mRNA sequence: 

    AB037837.1 AK000364.1 AK000368.1 AK123158.1 AK225354.1 AK295751.1 BC051264.1 BC080627.1 
    GU060498.1 

    10 DOTS entries:

    DT.101962994  DT.100783841  DT.92426059  DT.111964  DT.121492349  DT.95274296  DT.95318946  DT.86838611 
    DT.97785259  DT.95307756 

    Selected AceView cDNA sequences (see all 195):

    BU930932 AA629693 AW957958 BU193102 AA918465 BC014681 AI819682 AL713438 
    BU846100 BC033116 AA831292 CB116136 CR602498 BX641423 AA953326 AL833190 
    AI870918 BI039198 BC068000 AI920951 BQ439110 AI935428 BC041018 BC053890 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CHD7    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
    SP1:                                                              -                                                                                             
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35
    SP1:                                -                                             
    SP2:                                                                              
    SP3:                                -                                             
    SP4:                                                                              


    ECgene alternative splicing isoforms for CHD7

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    CHD7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCAAATG
    CHD7 Expression
    About this image


    CHD7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 6 entries
             hIPS1
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
    CHD7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHD7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.20395

    UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1
    Tissue specificity: Widely expressed in fetal and adult tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CHD7: 
              T Helper Cell Differentiation in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CHD7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHD7
    QuantiTect SYBR Green Assays in human, mouse, rat CHD7
    QuantiFast Probe-based Assays in human, mouse, rat CHD7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD7

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for CHD7 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chd71 , 5 chromodomain helicase DNA binding protein 71, 5 89.89(n)1
    95.08(a)1
      4 (3.68 cM)5
    3207901  NM_001277149.11  NP_001264078.11 
     86904065 
    chicken
    (Gallus gallus)
    Aves CHD71 chromodomain helicase DNA binding protein 7 85.21(n)
    92.44(a)
      421140  NM_001077586.1  NP_001071054.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHD76
    chromodomain helicase DNA binding protein 7
    90(a)
    1 ↔ 1
    4(28522776-28669341)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.167302 Xenopus laevis transcribed sequence with weak similarity more 80.65(n)    CA791047.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570635172   -- 78.87(n)    57063517 
    fruit fly
    (Drosophila melanogaster)
    Insecta kis6
    kismet
    21(a)
    1 → many
    2L(210735-250823)
    worm
    (Caenorhabditis elegans)
    Secernentea chd-76
    Protein CHD-7 (chd-7) mRNA, complete cds
    28(a)
    1 → many
    I(4685868-4698575) WBGene00007053


    ENSEMBL Gene Tree for CHD7 (if available)
    TreeFam Gene Tree for CHD7 (if available)

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

    TryGeneCards Plus
    Paralogs for CHD7 gene
    CHD62  CHD52  CHD92  CHD42  CHD12  CHD82  CHD32  CHD22  
    4 SIMAP similar genes for CHD7 using alignment to 5 protein entries:     CHD7_HUMAN (see all proteins):
    CHD8    CHD9    CHD6    HELLS

    Find genes that share paralogs with CHD7           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CHD7 (see all 3790)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0332464
    CHARGE syndrome (CHARGES)4--see VAR_0332462 Q R mis40--------
    VAR_0210594
    CHARGE syndrome (CHARGES)4--see VAR_0210592 I V mis40--------
    VAR_0681454
    CHARGE syndrome (CHARGES)4--see VAR_0681452 I N mis40--------
    VAR_0681504
    CHARGE syndrome (CHARGES)4--see VAR_0681502 R G mis40--------
    VAR_0546264
    Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)4--see VAR_0546262 P L mis40--------
    VAR_0546274
    Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)4--see VAR_0546272 K E mis40--------
    VAR_0681374
    CHARGE syndrome (CHARGES)4--see VAR_0681372 G D mis40--------
    VAR_0683904
    CHARGE syndrome (CHARGES)4--see VAR_0683902 W R mis40--------
    VAR_0683934
    CHARGE syndrome (CHARGES)4--see VAR_0683932 C R mis40--------
    VAR_0683954
    CHARGE syndrome (CHARGES)4--see VAR_0683952 L P mis40--------

    HapMap Linkage Disequilibrium report for CHD7 (61591324 - 61780587 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CHD7 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2462449CNV Deletion19546169
    esv1009733CNV Insertion20482838
    nsv397201CNV Insertion16902084
    nsv824657CNV Loss20364138
    nsv831335CNV Loss17160897
    nsv6219CNV Loss18451855
    nsv890946CNV Gain21882294
    nsv526196CNV Gain19592680
    nsv824659CNV Gain20364138
    nsv824658CNV Gain20364138

    Human Gene Mutation Database (HGMD): CHD7
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing CHD7:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing CHD7
    DNA2.0 Custom Variant and Variant Library Synthesis for CHD7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 608892   
    OMIM disorders: 214800  608765  612370  
    UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1
  • CHARGE syndrome (CHARGES) [MIM:214800]: Common cause of congenital anomalies. Is characterized by a
    non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear,
    and retina. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of the vertebral column in which patients
    develop lateral curvature of the spine of at least 10 degrees. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry
  • Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]: A disorder characterized by
    absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating
    gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it
    is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss.
    Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is
    due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of
    gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic
    hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been
    termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 12 diseases for CHD7:    
    About MalaCards
    chd7-related isolated gonadotropin-releasing hormone deficiency    hypogonadotropic hypogonadism 5 with or without anosmia    scoliosis, idiopathic 3    perinephritis
    charge syndrome    esophageal atresia    tracheoesophageal fistula    choanal atresia
    omenn syndrome    lymphocytic choriomeningitis    hypogonadotropic hypogonadism 8 with or without anosmia    hypogonadotropic hypogonadism 17 with or without anosmia

    6 diseases from the University of Copenhagen DISEASES database for CHD7:
    Choanal atresia     Coloboma     Klinefelter's syndrome     Hypogonadism
    Congenital heart defect     DiGeorge syndrome

    Find genes that share disorders with CHD7           About GenesLikeMe

    6 Novoseek inferred disease relationships for CHD7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    coloboma 93.8 7 17280632 (1), 19598179 (1), 20186814 (1), 19251738 (1)
    atresia 83.8 7 17280632 (1), 19598179 (1), 20186814 (1), 19251738 (1)
    heart defects congenital 81.4 8 17280632 (1), 19598179 (1), 20186814 (1), 19251738 (1) (see all 5)
    growth retardation 67.7 2 17280632 (1)
    hypoplasia 51.2 1 20186815 (1)
    dysplasia 38 1 20186815 (1)

    GeneTests: CHD7
    GeneReviews: CHD7
    Genetic Association Database (GAD): CHD7
    Human Genome Epidemiology (HuGE) Navigator: CHD7 (9 documents)

    Export disorders for CHD7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for CHD7 gene, integrated from 10 sources (see all 102):
    (articles sorted by number of sources associating them with CHD7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (PubMed id 18834967)1, 2, 3 Kim H.-G.... Layman L.C. (Am. J. Hum. Genet. 2008)
    2. CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. (PubMed id 17436250)1, 2, 4 Gao X.... Wise C. (Am. J. Hum. Genet. 2007)
    3. CHD7 gene and non-syndromic cleft lip and palate. (PubMed id 16763960)1, 2, 4 Felix T.M.... Murray J.C. (Am. J. Med. Genet. A 2006)
    4. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (PubMed id 15300250)1, 2, 3 Vissers L.E.L.M.... Geurts van Kessel A. (Nat. Genet. 2004)
    5. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. (PubMed id 20186815)1, 4, 9 Zentner G.E....Scacheri P.C. (Am. J. Med. Genet. A 2010)
    6. Mutation update on the CHD7 gene involved in CHARGE syndrome. (PubMed id 22461308)1, 2 Janssen N.... Hoefsloot L.H. (Hum. Mutat. 2012)
    7. CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. (PubMed id 21554267)1, 2 Pauli S.... Kohlhase J. (Clin. Genet. 2012)
    8. Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L. (PubMed id 22646239)1, 2 Kita Y.... Nakayama K.I. (Genes Cells 2012)
    9. CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. (PubMed id 21931733)1, 2 Song M.H.... Kim U.K. (PLoS ONE 2011)
    10. Mutations in the CHD7 gene: the experience of a commercial laboratory. (PubMed id 21158681)1, 2 Bartels C.F.... Bale S. (Genet. Test. Mol. Biomarkers 2010)

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

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 55636 HGNC: 20626 AceView: CHD7 Ensembl:ENSG00000171316 euGenes: HUgn55636
    ECgene: CHD7 H-InvDB: CHD7

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1416

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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CHD7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CHD7[genesymbol]
    CHD7 databasehttp://www.chd7.org/molgenis.do

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

    TryGeneCards Plus
    Patent Information for CHD7 gene:
    Search GeneIP for patents involving CHD7

    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)
    About This Section

    TryGeneCards Plus

     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of CHD7
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Antibodies for CHD7 (CHD7)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for CHD7   OriGene RNAi products in human, mouse, rat for CHD7  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CHD7  
     OriGene qSTAR qPCR primer pairs in human, mouse for CHD7   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for CHD7   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CHD7   OriGene Custom Protein Services for CHD7  

     
     
     Block miRNA regulation of human, mouse, rat CHD7 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CHD7
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHD7 Predesigned siRNA for gene silencing in human, mouse, rat CHD7
     QuantiFast Probe-based Assays in human, mouse, rat CHD7 QuantiTect SYBR Green Assays in human, mouse, rat CHD7
     PCR Arrays including human, mouse, rat CHD7 Search Chromatin IP Primers for CHD7
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHD7  Search GeneGlobe Interaction Network for CHD7
     Regulatory tfbs in CHD7 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CHD7 GenScript cDNA clones with any tag delivered in your preferred vector for CHD7
     GenScript Custom Assay Services for CHD7 GenScript Custom overexpressing Cell Line Services for CHD7
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Antibodies & Assays for CHD7  (CHD-7)

     Search Tocris compounds for CHD7
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CHD7 antibodies
     CHD7 proteins
     Search for Antibodies for CHD7 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for CHD7
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CHD7
     Antibodies for CHD7
     ELISAs for CHD7
     CLIAs for CHD7



     Browse ESI BIO Cell Lines and PureStem Progenitors for CHD7
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD7
     SwitchGear 3'UTR luciferase reporter plasmids for CHD7
     SwitchGear Promoter luciferase reporter plasmids for CHD7
     Search ThermoFisher Antibodies for CHD7
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CHD7
     Browse compounds at ApexBio
     Search Addgene for plasmids for CHD7
      Search eBioscience for proteins for CHD7
      Search eBioscience for elisas for CHD7
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for CHD7
     antibodies-online antibodies for CHD7 (17 products)
     antibodies-online kits for CHD7 (6 products)
     antibodies-online peptides for CHD7
      Search antibodies-online for proteins for CHD7
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

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


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

    Hot genes      Disease genes      CHD7 gene at Home site.
    Version: 3.12.250 16 Nov 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4