CHD2 gene

chromodomain helicase DNA binding protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression.

From NCBI Gene:

  • Epileptic encephalopathy, childhood-onset

From UniProt:

Epileptic encephalopathy, childhood-onset (EEOC): A severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. [MIM:615369]

Cytogenetic Location: 15q26.1, which is the long (q) arm of chromosome 15 at position 26.1

Molecular Location: base pairs 92,900,321 to 93,028,007 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q26.1, which is the long (q) arm of chromosome 15 at position 26.1