CHD8 Gene
protein-coding GIFtS: 56
GCID: GC14M021853
|
|
chromodomain helicase DNA binding protein 8(Previous name: helicase with SNF2 domain 1 )
(Previous symbol: HELSNF1)
| |
Aliases
for CHD8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromodomain Helicase DNA Binding Protein 81 2 | | Axis Duplication Inhibitor2 | | Helicase With SNF2 Domain 11 2 3 | | Chromodomain-Helicase-DNA-Binding Protein 82 | | HELSNF11 2 3 | | Duplin1 | | KIAA15641 3 5 | | CHD-83 | | ATP-Dependent Helicase CHD82 3 | | EC 3.6.4.123 | | DUPLIN1 5 | | EC 3.6.18 | | AUTS182 | | EC 3.6.1.78 |
Export aliases for CHD8 gene to outside databasesPrevious GC identifers: GC14M019844 GC14M020923 GC14M001973 |
Summaries
for CHD8 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CHD8:
This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. Itbinds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate earlydevelopment and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced transcriptvariants encoding different isoforms have been found for this gene. (provided by RefSeq, May 2010)
UniProtKB/Swiss-Prot: CHD8_HUMAN, Q9HCK8Function: DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcriptionrepressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediatedapoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator ofWnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted geneexpression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved inboth enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as asuppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as atranscription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase IIItranscription
Gene Wiki entry for CHD8
|
Genomic Views
for CHD8 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CHD8 gene promoter:
c-Fos AP-1 HOXA5 STAT3 c-Jun Nkx2-5 HNF-4alpha2 POU3F2 HNF-4alpha1
Other transcription factors
Search SABiosciences Chromatin IP Primers for CHD8
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHD8 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q11.2 Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11.2CHD8 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14M021853: view genomic region
(about GC identifiers)
Start:
|
21,853,353 bp from pter |
End:
|
21,924,285 bp from pter |
Size:
|
70,933 bases |
Orientation:
|
minus strand |
|
Proteins
for CHD8 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CHD8_HUMAN, Q9HCK8 (See
protein sequence)Recommended Name: Chromodomain-helicase-DNA-binding protein 8 Size: 2581 amino acids; 290519 Da
Subunit: Interacts with p53/TP53, histone H1, CTNNB1, CTCF and PIAS3. Component of some MLL1/MLL complex, at leastcomposed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18,CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A,RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with CHD7
Subcellular location: Nucleus. Note=Localizes to the promoter regions of several CTNNB1-responsive genes. Also presentat known CTCF target sites
Miscellaneous: Its gene is located in the 14q11.2 region of the genome which is associated with developmental delay,cognitive impairment and similar minor anomalies in some children, suggesting that it may be a good candidate for thephenotype
2 PDB 3D structures from  and Proteopedia  for CHD8:2CKA (3D)
2DL6 (3D)
Secondary accessions: Q4G0D8 Q68DQ0 Q6DKH9 Q6P440 Q6ZNL7 Q8N3Z9 Q8NCY4 Q8TBR9 Q96F26Alternative splicing: 2 isoforms: Q9HCK8-1 Q9HCK8-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CHD8: NX_Q9HCK8
Post-translational modifications:
Sumoylated (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9HCK8
4/66 DME Specific Peptides for CHD8 (Q9HCK8) (see all 66)
CHD8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001164100.1 NP_065971.2
ENSEMBL proteins: ENSP00000406288 ENSP00000451601 ENSP00000451071 ENSP00000451442 ENSP00000450860 ENSP00000450957 ENSP00000382863
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
CHD8 for ontologies About GeneDecksing
CHD8 Antibody Products:
Assay Products for CHD8: |
Protein
Domains /
Families
for CHD8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CHD8 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q9HCK8ProtoNet protein and cluster: Q9HCK8 4 Blocks protein families: IPB000330 SNF2 related domain IPB000953 Chromo domain IPB002464 ATP-dependent helicase IPB006576 Domain in transcription and CHROMO domain helicase
UniProtKB/Swiss-Prot: CHD8_HUMAN, Q9HCK8Similarity: Belongs to the SNF2/RAD54 helicase family. CHD8 subfamilySimilarity: Contains 2 chromo domainsSimilarity: Contains 1 helicase ATP-binding domainSimilarity: Contains 1 helicase C-terminal domain |
Function
for CHD8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CHD8_HUMAN, Q9HCK8Function: DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcriptionrepressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediatedapoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator ofWnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted geneexpression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved inboth enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as asuppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as atranscription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase IIItranscriptionCatalytic activity: ATP + H(2)O = ADP + phosphateEnzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.1.72 EC 3.6.4.121
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHD8 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHD8 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CHD8 (NM_016565) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHD8 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CHD8 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD8 |
Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table
CHD8 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for CHD8:
Animal Models:
Mouse knock-out Chd8tm1Kei for CHD8
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Chd8):
CHD8 for phenotypes About GeneDecksing
|
Pathways & Interactions
for CHD8 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Regulation of Wnt-mediated beta catenin signaling and target gene transcription | | | 2 | Chromatin Regulation / Acetylation | | | 3 | Wnt Signaling Pathway | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for CHD8
1  BioSystems Pathway for CHD8
1 
Kegg Pathway (Kegg details for CHD8):
CHD8 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHD8
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/777 Interacting proteins for CHD8 (Q9HCK81, 2, 3 ENSP000004062884) via UniProtKB, MINT, STRING, and/or I2D (see all 777)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| RBBP5 | Q152912, 3, ENSP000002645154 | MINT-7542769 MINT-7945693 MINT-7542810 MINT-7947479 I2D:
score=2 STRING: ENSP00000264515 | | ASH2L | Q9UBL32, 3, ENSP000003408964 | MINT-7542769 MINT-7542820 I2D:
score=2 STRING: ENSP00000340896 | | WDR5 | P619642, 3, ENSP000003514464 | MINT-7542769 MINT-7945693 MINT-7542794 I2D:
score=2 STRING: ENSP00000351446 | | RUVBL1 | Q9Y2652, ENSP000003182974 | MINT-7945693 MINT-7947479 STRING: ENSP00000318297 | | CHD7 | Q9P2D11, 2, ENSP000003920284 | EBI-4410319,EBI-3951683 MINT-7945693 STRING: ENSP00000392028 |
About this table
Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table
CHD8 for ontologies About GeneDecksing
|
Drugs & Compounds
for CHD8 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CHD8
Search CenterWatch for drugs/clinical trials and news about CHD8
|
Transcripts
for CHD8 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CHD8 gene (2 alternative transcripts): NM_001170629.1 NM_020920.3 Unigene Cluster for CHD8: Chromodomain helicase DNA binding protein 8 Hs.530698 [show with all ESTs]Unigene Representative Sequence: NM_00117062914 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000430710(uc001wav.1 uc001was.2) ENST00000557727 ENST00000557364
ENST00000553870 ENST00000555301 ENST00000557329 ENST00000555962 ENST00000555935
ENST00000554384 ENST00000553283 ENST00000553622 ENST00000556833 ENST00000553651
ENST00000399982(uc001war.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHD8 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHD8 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CHD8 (NM_016565) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHD8 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CHD8 |
Additional cDNA sequence: AB046784.3 AK056639.1 AK098408.1 AK122868.1 AK122910.1 AK131077.1 AL834524.1 BC011695.2 BC025964.1 BC036920.1 BC040636.1 BC063693.1 BC073903.1 BC098452.1 CR749315.1 U00930.1 U00955.1 21 DOTS entries: DT.97818710 DT.416688 DT.120756800 DT.101984323 DT.101984325 DT.91641453 DT.121642531 DT.97771152 DT.100777582 DT.95260982 DT.85105367 DT.100702213 DT.120756655 DT.120756697 DT.120756803 DT.121611975 DT.75123471 DT.86859716 DT.95136464 DT.40208183 DT.91748922 24/265 AceView cDNA sequences (see all 265): T56603 BU738370 BC025964 BC073903 AA434112 AI989328 BC011695 BC040636 AI279059 BE263880 AU185347 BG681337 BM903842 AW342141 BC063693 AI659798 AL834524 BQ934403 BQ962125 AK098408 AK131077 AW327785 BM704868 AA367366
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CHD8 (see all 7) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | - | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 24a | · | 24b | · | 24c | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | · | 31c | ^ | 32a | · | 32b | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37a | · | 37b | ^ | 38 |
|---|
|
| SP1: | - | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | - | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for CHD8
|
Expression
for CHD8 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CHD8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCCCCATTG
About this image
See CHD8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHD8
SOURCE GeneReport for Unigene cluster: Hs.530698
SABiosciences Expression via Pathway-Focused PCR Array including CHD8:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHD8
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CHD8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHD8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHD8 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD8 |
Orthologs
for CHD8 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for CHD8 gene from 5/22 species (see all 22) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
CHD86 |
-- |
78(a) |
1 ↔ 1 |
GL343466.1(407623-436295) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.329122 |
Xenopus laevis transcribed sequence with weak similarity more |
75.13(n) |
|
BJ643955.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
chd81 |
chromodomain helicase DNA binding protein 8 |
61.23(n)
63.25(a) |
|
568214 NM_001202452.1 NP_001189381.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
kis6 |
kismet |
16(a) |
1 → many |
2L(210735-250823) |
worm
(Caenorhabditis elegans) |
Secernentea |
chd-76 |
Temporarily Assigned Gene name family member (tag-... |
23(a) |
1 → many |
I(4685869-4698576) |
ENSEMBL Gene Tree for CHD8 (if available)
TreeFam Gene Tree for CHD8 (if available) |
Paralogs
for CHD8 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CHD8 gene
- CHD62 CHD52 CHD92 CHD42 CHD12 CHD72 CHD32 CHD22
11 SIMAP similar genes for CHD8 using alignment to 6 protein entries: CHD8_HUMAN (see all proteins):CHD9 CHD6 CHD7 CHD5 SMARCA5 DKFZp434K213
DKFZp434P202 CHD1L SMARCA1 CHD4 HELLS
CHD8 for paralogs About GeneDecksing
|
Genomic Variants
for CHD8 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CHD8 (21853353 - 21924285 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CHD8
1 CNV: 0174
Human Gene Mutation Database (HGMD): CHD8
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHD8 |
|
Disorders
/ Diseases
for CHD8 gene
(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.)
About This Section
|
CHD8 for disorders About GeneDecksing
OMIM gene information: 610528
OMIM disorders: --
1  disease for CHD8: About MalaCardscharge syndrome
Export disorders for CHD8 gene to outside databases
|
Publications
for CHD8 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CHD8 gene, integrated from 9 sources (see all 51):
(articles sorted by number of sources associating them with CHD8) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (2000)
- CHD8 associates with human Staf and contributes to efficient U6 RNA polymerase III transcription. (PubMed id 17938208)1, 2, 9 Yuan C.-C....Hernandez N. (2007)
- CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. (PubMed id 20453063)1, 2 Batsukh T....Pauli S. (2010)
- CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. (PubMed id 18378692)1, 2 Thompson B.A.... Bochar D.A. (2008)
- A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- CTCF-dependent chromatin insulator is linked to epigenetic remodeling. (PubMed id 16949368)1, 2 Ishihara K....Nakao M. (2006)
- Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PubMed id 15960975)1, 2 Dou Y.... Roeder R.G. (2005)
- 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. (2004)
- 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. (2002)
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External Searches for CHD8 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing CHD8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing CHD8 gene
(According to HUGE)
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Specialized Databases showing CHD8 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for CHD8 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for CHD8 gene:
Search GeneIP for patents involving CHD8
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for CHD8 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CHD8 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHD8 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHD8 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CHD8 | | OriGene 3'-UTR Clone for CHD8 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHD8 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHD8 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CHD8 | | OriGene Custom Protein Services for CHD8 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CHD8 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHD8 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHD8 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHD8 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHD8 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHD8 |
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| | Antibodies & Assays for CHD8 (CHD-8) |
| | | | Search Tocris compounds for CHD8 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD8 |
|  |  |  | | | | Search ThermoFisher Antibodies for CHD8 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CHD8 |
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