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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]
CHD2 (Chromodomain Helicase DNA Binding Protein 2) is a Protein Coding gene. Diseases associated with CHD2 include Epileptic Encephalopathy, Childhood-Onset and Myoclonic-Astastic Epilepsy. Among its related pathways are Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include core promoter sequence-specific DNA binding. An important paralog of this gene is CHD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,ISS | -- |
GO:0003677 | DNA binding | IEA,TAS | 9326634 |
GO:0003678 | DNA helicase activity | TAS,IEA | -- |
GO:0003723 | RNA binding | HDA | 22658674 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,ISS | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin Regulation / Acetylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 9326634 |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0007517 | muscle organ development | ISS | -- |
GO:0032508 | DNA duplex unwinding | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | |||||||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: | |||||||||||||||||
SP6: | |||||||||||||||||
SP7: | |||||||||||||||||
SP8: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CHD2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CHD2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CHD2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CHD2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Chd2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Chd2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CHD2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CHD2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CHD2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chd2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.3342 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | chd2 30 31 |
|
OneToOne | |
Dr.15242 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008698 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Chd1 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | chd-1 30 31 |
|
OneToMany | |
H06O01.2 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CHD1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CHR5 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0660200 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637993 | Uncertain Significance: Epileptic encephalopathy, childhood-onset | 92,997,001(+) | G/A | MISSENSE_VARIANT | |
639651 | Uncertain Significance: Epileptic encephalopathy, childhood-onset | 92,978,357(+) | G/A | MISSENSE_VARIANT | |
642182 | Likely Pathogenic: Epileptic encephalopathy, childhood-onset | 92,955,268(+) | GGTTGCTTAGGTCATT | SPLICE_ACCEPTOR_VARIANT | |
642482 | Likely Pathogenic: Epileptic encephalopathy, childhood-onset | 93,012,365(+) | C/T | MISSENSE_VARIANT | |
642890 | Uncertain Significance: Epileptic encephalopathy, childhood-onset | 92,985,642(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1264n106 | CNV | deletion | 24896259 |
dgv157n21 | CNV | loss | 19592680 |
dgv2660n100 | CNV | gain | 25217958 |
esv1010129 | CNV | deletion | 20482838 |
esv1475283 | CNV | deletion | 17803354 |
esv2229244 | CNV | deletion | 18987734 |
esv2567952 | CNV | deletion | 19546169 |
esv2750049 | CNV | deletion | 23290073 |
esv3214901 | CNV | deletion | 24192839 |
esv3304312 | CNV | mobile element insertion | 20981092 |
esv3327654 | CNV | insertion | 20981092 |
esv3343910 | CNV | insertion | 20981092 |
esv3552857 | CNV | deletion | 23714750 |
esv3637274 | CNV | gain | 21293372 |
esv4137 | CNV | loss | 18987735 |
esv9274 | CNV | loss | 19470904 |
nsv1052724 | CNV | gain | 25217958 |
nsv1070477 | CNV | deletion | 25765185 |
nsv1146550 | CNV | deletion | 26484159 |
nsv520601 | CNV | loss | 19592680 |
nsv523617 | CNV | loss | 19592680 |
nsv957969 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epileptic encephalopathy, childhood-onset |
|
|
myoclonic-astastic epilepsy |
|
|
lennox-gastaut syndrome |
|
|
benign epilepsy with centrotemporal spikes |
|
|
chd2-related neurodevelopmental disorders |
|
|