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Aliases for CHD2 Gene

Aliases for CHD2 Gene

  • Chromodomain Helicase DNA Binding Protein 2 2 3 5
  • ATP-Dependent Helicase CHD2 3 4
  • CHD-2 3 4
  • Chromodomain-Helicase-DNA-Binding Protein 2 3
  • EC 3.6.4.12 4
  • EC 3.6.1 61
  • EEOC 3

External Ids for CHD2 Gene

Previous GeneCards Identifiers for CHD2 Gene

  • GC15P089886
  • GC15P087276
  • GC15P091030
  • GC15P091173
  • GC15P091244
  • GC15P093443
  • GC15P069580
  • GC15P093533
  • GC15P093924
  • GC15P094240
  • GC15P094584

Summaries for CHD2 Gene

Entrez Gene Summary for CHD2 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]

GeneCards Summary for CHD2 Gene

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. GO annotations related to this gene include poly(A) RNA binding and core promoter sequence-specific DNA binding. An important paralog of this gene is CHD1.

UniProtKB/Swiss-Prot for CHD2 Gene

  • 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 (By similarity).

Gene Wiki entry for CHD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHD2 Gene

Genomics for CHD2 Gene

Regulatory Elements for CHD2 Gene

Enhancers for CHD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CHD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHD2 Gene

Chromosome:
15
Start:
92,900,189 bp from pter
End:
93,028,007 bp from pter
Size:
127,819 bases
Orientation:
Plus strand

Genomic View for CHD2 Gene

Genes around CHD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHD2 Gene

Proteins for CHD2 Gene

  • Protein details for CHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14647-CHD2_HUMAN
    Recommended name:
    Chromodomain-helicase-DNA-binding protein 2
    Protein Accession:
    O14647
    Secondary Accessions:
    • C6G482
    • Q96IP5

    Protein attributes for CHD2 Gene

    Size:
    1828 amino acids
    Molecular mass:
    211344 Da
    Quaternary structure:
    • Interacts with MYOD1. Interacts with histone H3.3 (By similarity).
    • Interacts with MYOD1. Interacts with histone H3.3 (By similarity).

    Alternative splice isoforms for CHD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHD2 Gene

Post-translational modifications for CHD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CHD2 Gene

Gene Families for CHD2 Gene

Graphical View of Domain Structure for InterPro Entry

O14647

UniProtKB/Swiss-Prot:

CHD2_HUMAN :
  • Contains 2 chromo domains.
  • Belongs to the SNF2/RAD54 helicase family.
Domain:
  • Contains 2 chromo domains.
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with CHD2: view

Function for CHD2 Gene

Molecular function for CHD2 Gene

GENATLAS Biochemistry:
DNA binding protein with two chromatin organization (chromo) domains,and a helicase domain,2,component of the chromatin remodeling complex
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
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 (By similarity).

Enzyme Numbers (IUBMB) for CHD2 Gene

Gene Ontology (GO) - Molecular Function for CHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001046 core promoter sequence-specific DNA binding ISS --
GO:0003677 DNA binding TAS 9326634
GO:0004003 ATP-dependent DNA helicase activity TAS 9326634
GO:0005515 protein binding IPI 21516116
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CHD2: view
genes like me logo Genes that share phenotypes with CHD2: view

Human Phenotype Ontology for CHD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHD2 Gene

MGI Knock Outs for CHD2:
  • Chd2 tm1b(EUCOMM)Hmgu

Animal Model Products

  • Taconic Biosciences Mouse Models for CHD2

CRISPR Products

miRNA for CHD2 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CHD2 Gene

Localization for CHD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHD2 Gene

Nucleus. Note=Binds to myogenic gene promoters. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHD2 Gene COMPARTMENTS Subcellular localization image for CHD2 gene
Compartment Confidence
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for CHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CHD2: view

Pathways & Interactions for CHD2 Gene

genes like me logo Genes that share pathways with CHD2: view

Pathways by source for CHD2 Gene

1 Cell Signaling Technology pathway for CHD2 Gene

Gene Ontology (GO) - Biological Process for CHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 9326634
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007517 muscle organ development ISS --
GO:0016568 chromatin modification IEA --
genes like me logo Genes that share ontologies with CHD2: view

No data available for SIGNOR curated interactions for CHD2 Gene

Drugs & Compounds for CHD2 Gene

(3) Drugs for CHD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for CHD2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with CHD2: view

Transcripts for CHD2 Gene

Unigene Clusters for CHD2 Gene

Chromodomain helicase DNA binding protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHD2 Gene

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:

Relevant External Links for CHD2 Gene

GeneLoc Exon Structure for
CHD2
ECgene alternative splicing isoforms for
CHD2

Expression for CHD2 Gene

mRNA expression in normal human tissues for CHD2 Gene

Protein differential expression in normal tissues from HIPED for CHD2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.7), Rectum (8.1), Adrenal (6.1), and Lung (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CHD2 Gene



Protein tissue co-expression partners for CHD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHD2 Gene:

CHD2

SOURCE GeneReport for Unigene cluster for CHD2 Gene:

Hs.220864
genes like me logo Genes that share expression patterns with CHD2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CHD2 Gene

Orthologs for CHD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHD2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia CHD2 34
  • 92.88 (n)
  • 98.47 (a)
CHD2 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chd2 34
  • 90.24 (n)
  • 96.5 (a)
Chd2 16
Chd2 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHD2 34
  • 99.77 (n)
  • 99.92 (a)
CHD2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chd2 34
  • 90.68 (n)
  • 96.72 (a)
cow
(Bos Taurus)
Mammalia CHD2 35
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHD2 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHD2 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHD2 34
  • 80.53 (n)
  • 89.4 (a)
CHD2 35
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHD2 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chd2 34
  • 73.73 (n)
  • 79.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3342 34
zebrafish
(Danio rerio)
Actinopterygii chd2 34
  • 69.54 (n)
  • 72.98 (a)
Dr.15242 34
chd2 35
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Chd1 36
  • 54 (a)
Chd1 34
  • 53.49 (n)
  • 50.94 (a)
Chd1 35
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008698 34
  • 56.7 (n)
  • 57.96 (a)
worm
(Caenorhabditis elegans)
Secernentea H06O01.2 36
  • 53 (a)
chd-1 34
  • 57.03 (n)
  • 55.77 (a)
chd-1 35
  • 48 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHD1 35
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CHR5 34
  • 51.4 (n)
  • 46.82 (a)
rice
(Oryza sativa)
Liliopsida Os07g0660200 34
  • 52.84 (n)
  • 49.28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 55 (a)
OneToMany
Species where no ortholog for CHD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHD2 Gene

ENSEMBL:
Gene Tree for CHD2 (if available)
TreeFam:
Gene Tree for CHD2 (if available)

Paralogs for CHD2 Gene

Paralogs for CHD2 Gene

genes like me logo Genes that share paralogs with CHD2: view

Variants for CHD2 Gene

Sequence variations from dbSNP and Humsavar for CHD2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs56227200 - 93,014,724(+) GACTG(A/C/G)GGGTA reference, missense
VAR_070209 Epileptic encephalopathy, childhood-onset (EEOC)
VAR_070210 Epileptic encephalopathy, childhood-onset (EEOC)
rs3064788 -- 92,930,025(+) AAAGT(-/CAAGT/CAGGT/GT)ACTTA intron-variant
rs3064790 -- 92,961,899(+) TTTTT(-/TT/TTTTT)GAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHD2 Gene

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

Variation tolerance for CHD2 Gene

Residual Variation Intolerance Score: 0.916% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.89; 48.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHD2 Gene

Human Gene Mutation Database (HGMD)
CHD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHD2 Gene

Disorders for CHD2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CHD2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, childhood-onset
  • childhood onset epileptic encephalopathy
myoclonic-astastic epilepsy
  • doose syndrome
lennox-gastaut syndrome
  • lennox syndrome
chd2-related neurodevelopmental disorders
photosensitive epilepsy
  • photogenic epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search CHD2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHD2_HUMAN
  • Epileptic encephalopathy, childhood-onset (EEOC) [MIM:615369]: 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. {ECO:0000269 PubMed:23708187}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHD2

Genetic Association Database (GAD)
CHD2
Human Genome Epidemiology (HuGE) Navigator
CHD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHD2
genes like me logo Genes that share disorders with CHD2: view

No data available for Genatlas for CHD2 Gene

Publications for CHD2 Gene

  1. Characterization of the CHD family of proteins. (PMID: 9326634) Woodage T. … Collins F.S. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 65
  2. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PMID: 23708187) Carvill G.L. … Mefford H.C. (Nat. Genet. 2013) 3 4 65
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  4. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody M.C. … Nusbaum C. (Nature 2006) 3 4 65
  5. PARP1 Links CHD2-Mediated Chromatin Expansion and H3.3 Deposition to DNA Repair by Non-homologous End-Joining. (PMID: 26895424) Luijsterburg M.S. … van Attikum H. (Mol. Cell 2016) 3 65

Products for CHD2 Gene

Sources for CHD2 Gene

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