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CHD4 (NM_001273) - chromodomain helicase DNA binding protein 4

Chromodomain-Helicase-Dna-Binding Protein 4 Isoform 1

Mutations Visualisation

Protein summary

This is preferred isoform of CHD4 protein. View all 2 isoforms
CHD4: chromodomain-helicase-DNA-binding protein 4 isoform 1
Description:

The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014].

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: SRR1803615.127809.1, SRR1803615.262254.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]

##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000544040.7/ ENSP00000440542.2 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END##

Strand
-
Chromosome
12
Protein
1912 residues
All mutations
276
PTM sites
118
CDS
6,679,841 - 6,715,539
Transcription
6,679,247 - 6,716,599
45.76% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 1108
UniProt
Ensembl