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CHD8

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GENERAL INFORMATION

Gene name

 CHD8

Gene description

 Chromodomain helicase DNA binding protein 8

Protein class

 Cancer-related genes
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the nucleoplasm.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleoplasm (supported)

Mouse

 Localized to the Nucleoplasm in mouse cells.

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA052186
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ASSAYS
RNA expression
Human cells
Mouse cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the nucleoplasm.

Main location

 Nucleoplasm (supported)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA052186 A-431 Nucleoplasm
HPA052186 U-251 MG No staining    

MOUSE CELLS

Main location

 Nucleoplasm

Mouse gene

 ENSMUSG00000053754 (version 83)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location
HPA052186 NIH 3T3 Nucleoplasm

GENE INFORMATION

Gene name

 CHD8 (HGNC Symbol)

Synonyms

 DUPLIN, HELSNF1, KIAA1564

Description

 Chromodomain helicase DNA binding protein 8 (HGNC Symbol)

Entrez gene summary

 This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early development and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Chromosome

 14

Cytoband

 q11.2

Chromosome location (bp)

 21385194 - 21456126

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000100888 (version 83.38)

Entrez gene

 57680

UniProt

 Q9HCK8 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9HCK8

Antibodypedia

 CHD8 antibodies

PROTEIN BROWSER
CHD8-001
CHD8-002
CHD8-003
CHD8-004
CHD8-007
CHD8-012
CHD8-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CHD8-001
ENSP00000406288
ENST00000430710
Q9HCK8 [Direct mapping]
Chromodomain-helicase-DNA-binding protein 8
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0002039 [p53 binding]
GO:0003677 [DNA binding]
GO:0003678 [DNA helicase activity]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0007420 [brain development]
GO:0008013 [beta-catenin binding]
GO:0008094 [DNA-dependent ATPase activity]
GO:0016817 [hydrolase activity, acting on acid anhydrides]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0032508 [DNA duplex unwinding]
GO:0035064 [methylated histone binding]
GO:0042393 [histone binding]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043234 [protein complex]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0045945 [positive regulation of transcription from RNA polymerase III promoter]
GO:0048565 [digestive tract development]
GO:0060070 [canonical Wnt signaling pathway]
GO:0071339 [MLL1 complex]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
Show all
 2302 aa
262.3 kDa 		No 0
CHD8-002
ENSP00000451601
ENST00000557364
Q9HCK8 [Direct mapping]
Chromodomain-helicase-DNA-binding protein 8
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0002039 [p53 binding]
GO:0003677 [DNA binding]
GO:0003678 [DNA helicase activity]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0007420 [brain development]
GO:0008013 [beta-catenin binding]
GO:0008094 [DNA-dependent ATPase activity]
GO:0016817 [hydrolase activity, acting on acid anhydrides]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0032508 [DNA duplex unwinding]
GO:0035064 [methylated histone binding]
GO:0042393 [histone binding]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043234 [protein complex]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0045945 [positive regulation of transcription from RNA polymerase III promoter]
GO:0048565 [digestive tract development]
GO:0060070 [canonical Wnt signaling pathway]
GO:0071339 [MLL1 complex]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
Show all
 2581 aa
290.5 kDa 		No 0
CHD8-003
ENSP00000450957
ENST00000553622
G3V303 [Direct mapping]
Chromodomain-helicase-DNA-binding protein 8
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
 151 aa
15.3 kDa 		No 0
CHD8-004
ENSP00000451442
ENST00000555935
H0YJG4 [Direct mapping]
Chromodomain-helicase-DNA-binding protein 8
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
Show all
 873 aa
101.6 kDa 		No 0
CHD8-007
ENSP00000450860
ENST00000553283
G3V2T9 [Direct mapping]
Chromodomain-helicase-DNA-binding protein 8
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
 98 aa
10.8 kDa 		No 0
CHD8-012
ENSP00000451071
ENST00000553870
H0YJA4 [Direct mapping]
Chromodomain-helicase-DNA-binding protein 8
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0016817 [hydrolase activity, acting on acid anhydrides]
Show all
 226 aa
25 kDa 		No 0
CHD8-201
ENSP00000382863
ENST00000399982
Q9HCK8 [Direct mapping]
Chromodomain-helicase-DNA-binding protein 8
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0001701 [in utero embryonic development]
GO:0002039 [p53 binding]
GO:0003677 [DNA binding]
GO:0003678 [DNA helicase activity]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0007420 [brain development]
GO:0008013 [beta-catenin binding]
GO:0008094 [DNA-dependent ATPase activity]
GO:0016817 [hydrolase activity, acting on acid anhydrides]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0032508 [DNA duplex unwinding]
GO:0035064 [methylated histone binding]
GO:0042393 [histone binding]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043066 [negative regulation of apoptotic process]
GO:0043234 [protein complex]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0045945 [positive regulation of transcription from RNA polymerase III promoter]
GO:0048565 [digestive tract development]
GO:0060070 [canonical Wnt signaling pathway]
GO:0070016 [armadillo repeat domain binding]
GO:0071339 [MLL1 complex]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:2000270 [negative regulation of fibroblast apoptotic process]
Show all
 2581 aa
290.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.