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CHD8

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

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.