CHD2 (chromodomain helicase DNA binding protein 2)

2006-10-01  

Identity

HGNC
LOCATION
15q26.1
LOCUSID
ALIAS
DEE94,EEOC
FUSION GENES

Other Information

Locus ID:

NCBI: 1106
MIM: 602119
HGNC: 1917
Ensembl: ENSG00000173575

Variants:

dbSNP: 1106
ClinVar: 1106
TCGA: ENSG00000173575
COSMIC: CHD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173575ENST00000394196O14647
ENSG00000173575ENST00000420239O14647
ENSG00000173575ENST00000625243A0A0D9SFA3
ENSG00000173575ENST00000625463A0A0D9SF92
ENSG00000173575ENST00000625662A0A0D9SEU0
ENSG00000173575ENST00000625990A0A0D9SEP7
ENSG00000173575ENST00000626782B7Z3I4
ENSG00000173575ENST00000626874O14647
ENSG00000173575ENST00000626874A0A024RC75
ENSG00000173575ENST00000627460A0A0D9SET4
ENSG00000173575ENST00000627622A0A0D9SFV4
ENSG00000173575ENST00000628375A0A0D9SGK0
ENSG00000173575ENST00000629104A0A0D9SEH6
ENSG00000173575ENST00000629346A0A0D9SGA6
ENSG00000173575ENST00000630016A0A0D9SFV8
ENSG00000173575ENST00000636881A0A1B0GTU9
ENSG00000173575ENST00000637613A0A1B0GU59
ENSG00000173575ENST00000637789A0A1B0GTM9

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
237081872013Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.221
268954242016PARP1 Links CHD2-Mediated Chromatin Expansion and H3.3 Deposition to DNA Repair by Non-homologous End-Joining.76
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
242071212013De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.51
257835942015CHD2 variants are a risk factor for photosensitivity in epilepsy.17
246145202014CHD2 mutations in Lennox-Gastaut syndrome.12
256729212015CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.12
260319152015Mutations in CHD2 cause defective association with active chromatin in chronic lymphocytic leukemia.12
253849822015Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domains.10
176064412007A detailed inventory of DNA copy number alterations in four commonly used Hodgkin's lymphoma cell lines.6

Citation

Dessen P

CHD2 (chromodomain helicase DNA binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43209/chd2-(chromodomain-helicase-dna-binding-protein-2)