CHD2

Chromodomain helicase DNA binding protein 2
Identifiers
Symbols	CHD2 ; EEOC
External IDs	OMIM: 602119 MGI: 2448567 HomoloGene: 37462 GeneCards: CHD2 Gene
EC number	3.6.4.12
Gene ontology Molecular function • core promoter sequence-specific DNA binding • DNA binding • ATP-dependent DNA helicase activity • protein binding • ATP binding • histone binding • poly(A) RNA binding Cellular component • nucleus • nucleoplasm • nucleolus • intracellular membrane-bounded organelle • extracellular exosome Biological process • transcription, DNA-templated • regulation of transcription from RNA polymerase II promoter • cellular response to DNA damage stimulus • muscle organ development • chromatin modification • DNA duplex unwinding • hematopoietic stem cell differentiation Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE CHD2 203461 at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1106	244059
Ensembl	ENSG00000173575	ENSMUSG00000078671
UniProt	O14647	E9PZM4
RefSeq (mRNA)	NM_001042572	NM_001081345
RefSeq (protein)	NP_001036037	NP_001074814
Location (UCSC)	Chr 15: 92.9 – 93.03 Mb	Chr 7: 73.43 – 73.54 Mb
PubMed search	[1]	[2]

Chromodomain-helicase-DNA-binding protein 2 is an enzyme that in humans is encoded by the CHD2 gene.

Function

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. CHD2 catalyzes the assembly of chromatin into periodic arrays; and the N-terminal region of CHD2, which contains tandem chromodomains, serves an auto-inhibitory role in both the DNA-binding and ATPase activities of CHD2. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Clinical significance

De Novo Mutations and deletions in this gene have been associated with cases of epileptic encephalopathies.

CHD2 epilepsy is increasingly being identified as a subpopulation of Lennox-Gastaut Syndrome.

Recently, de novo mutations or deletions in CHD2 has been linked to intellectual disability and to autism. Researchers found 27 genes which abolish function of the corresponding protein — in at least two people with autism, and 6 genes are mutated in three or more people with autism. These six genes — CHD8, DYRK1A, ANK2, GRIN2B, DSCAM and CHD2 — are the strongest autism candidates identified so far.

Family support

Syndromes associated with mutations or deletions in CHD2 can be devastating. Families of individuals with CHD2 mutations or deletions can join a research and support group.

External links

• FactorBook CHD2