Tbio CHD8 Chromodomain-helicase-DNA-binding protein 8

Protein Summary

Description

DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription. This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]

Uniprot Accession IDs

• Q9HCK8
• Q4G0D8
• Q68DQ0
• Q6DKH9
• Q6P440
• Q6ZNL7
• Q8N3Z9
• Q8NCY4
• Q8TBR9
• Q96F26
• CHD-8

Gene Name

• CHD8

Ensembl ID

• ENST00000399982
• ENSP00000382863
• ENSG00000100888
• ENST00000430710
• ENSP00000406288
• ENST00000557364
• ENSP00000451601
• ENST00000643469
• ENSP00000495070
• ENST00000645929
• ENSP00000494402
• ENST00000646647
• ENSP00000495240

Symbol

• HELSNF1
• KIAA1564
• AUTS18
• HELSNF1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	1
protein domain	0.97
disease perturbation	0.96
interacting protein	0.91
biological process	0.86

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 115.77   (req: < 5)

Gene RIFs: 27   (req: <= 3)

Antibodies: 105   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 115.77   (req: >= 5)

Gene RIFs: 27   (req: > 3)

Antibodies: 105   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 24

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (232)

Explore Interacting Targets

1 – 10 of 232

• See Interactions on String-DB

IKZF5

Tbio

Family:  TF

Novelty:  0.36596327

p_int:  0.999999991

p_ni:  9e-9

Score:  0.198

Data Source:  BioPlex,STRINGDB

HSPB2

Tbio

Novelty:  0.00103909

p_int:  0.999982355

p_ni:  0.000017645

Data Source:  BioPlex

AP2M1

Tbio

Novelty:  0.00769368

p_int:  0.999960912

p_ni:  0.000039088

Score:  0.313

Data Source:  BioPlex,STRINGDB

ANKRD36B

Tdark

Novelty:  2.44907149

p_int:  0.999950698

p_ni:  0.000049302

Data Source:  BioPlex

PSME3

Tbio

Novelty:  0.01051254

p_int:  0.999949227

p_ni:  0.000050773

Score:  0.165

Data Source:  BioPlex,STRINGDB

PSMC3

Tbio

Family:  Enzyme

Novelty:  0.04026019

p_int:  0.999339545

p_ni:  0.000660455

Score:  0.167

Data Source:  BioPlex,STRINGDB

YAF2

Tbio

Novelty:  0.10772286

p_int:  0.999291891

p_ni:  0.000708109

Score:  0.161

Data Source:  BioPlex,STRINGDB

NFATC2IP

Tbio

Novelty:  0.02974299

p_int:  0.999222598

p_ni:  0.000777402

Score:  0.426

Data Source:  BioPlex,STRINGDB

CARD8

Tbio

Family:  Enzyme

Novelty:  0.0146799

p_int:  0.997924397

p_ni:  0.002075603

Data Source:  BioPlex

RFPL4B

Tdark

Novelty:  2.42779597

p_int:  0.992416038

p_ni:  0.007583945

p_wrong:  1.7e-8

Score:  0.228

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (9)

Reactome (4)

KEGG (1)

PathwayCommons (1)

WikiPathways (3)

Deactivation of the beta-catenin transactivating complex (R-HSA-3769402)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Deactivation of the beta-catenin transactivating complex	42 targets	R-HSA-3769402
Reactome	Signal Transduction	2704 targets	R-HSA-162582
Reactome	Signaling by WNT	299 targets	R-HSA-195721
Reactome	TCF dependent signaling in response to WNT	204 targets	R-HSA-201681

Name	Explore in Pharos	Explore in Source
Deactivation of the beta-catenin transactivating complex	42 targets	R-HSA-3769402
Signal Transduction	2704 targets	R-HSA-162582
Signaling by WNT	299 targets	R-HSA-195721
TCF dependent signaling in response to WNT	204 targets	R-HSA-201681

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (28)

Functions (10)

Components (4)

Processes (14)

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10

1 – 10 of 10

GO Term	Evidence	Assigned by
ATP binding	Inferred from Direct Assay (IDA)	UniProtKB
beta-catenin binding	Inferred from Direct Assay (IDA)	UniProtKB
chromatin binding	Inferred from Direct Assay (IDA)	MGI
DNA-dependent ATPase activity	Inferred from Direct Assay (IDA)	UniProtKB
methylated histone binding	Inferred from Direct Assay (IDA)	UniProtKB
DNA binding	Inferred from Mutant Phenotype (IMP)	UniProtKB
DNA helicase activity	Inferred from Mutant Phenotype (IMP)	UniProtKB
histone binding	Inferred from Sequence or structural Similarity (ISS)	UniProtKB
p53 binding	Inferred from Sequence or structural Similarity (ISS)	UniProtKB
armadillo repeat domain binding	Inferred from Electronic Annotation (IEA)	Ensembl

Disease Associations ()

No disease associations found

GWAS Traits (6)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 6

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
body height	EFO_0004339	1	1	1		77.9
self reported educational attainment	EFO_0004784	1	1	1		59
BMI-adjusted hip circumference	EFO_0008039	1	1	1		47.7
mathematical ability	EFO_0004875	1	1	1		35
smoking status measurement	EFO_0006527	1	1	1		15.8

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 6

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
body height	EFO_0004339	1		77.9
self reported educational attainment	EFO_0004784	1		59
BMI-adjusted hip circumference	EFO_0008039	1		47.7
mathematical ability	EFO_0004875	1		35
smoking status measurement	EFO_0006527	1		15.8

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Activator
Alternative splicing
ATP-binding
Autism
Autism spectrum disorder
Chromatin regulator
Complete proteome
Disease mutation
DNA-binding

GWAS Trait Find Similar Targets

No Header	No Header
BMI-adjusted hip circumference
body height
electrocardiography
mathematical ability
self reported educational attainment
smoking status measurement

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cellular phenotype
digestive/alimentary phenotype
embryo phenotype
growth/size/body region phenotype
mortality/aging
nervous system phenotype

IDG Resources

No IDG generated resources found

Orthologs (12)

1 – 5 of 12

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	chromodomain helicase DNA binding protein 8	VGNC:3449	739837
Macaque	chromodomain helicase DNA binding protein 8		708169
Mouse	chromodomain helicase DNA binding protein 8	MGI:1915022	67772
Rat	chromodomain helicase DNA binding protein 8	RGD:620696	65027
Dog	chromodomain helicase DNA binding protein 8	VGNC:39206	475401

Species	Name	OMA	EggNOG	Inparanoid
Chimp	chromodomain helicase DNA binding protein 8
Macaque	chromodomain helicase DNA binding protein 8
Mouse	chromodomain helicase DNA binding protein 8
Rat	chromodomain helicase DNA binding protein 8
Dog	chromodomain helicase DNA binding protein 8

Publication Statistics

PubMed Score 115.77

PubMed score by year

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PubTator Score 46.14

PubTator score by year

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Related Publications

Text Mined References (45)

GeneRif Annotations (27)

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PMID	Year	Title