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Aliases for CHD2 Gene

Aliases for CHD2 Gene

  • Chromodomain Helicase DNA Binding Protein 2 2 3
  • ATP-Dependent Helicase CHD2 3 4
  • CHD-2 3 4
  • EEOC 3 6
  • Chromodomain-Helicase-DNA-Binding Protein 2 3
  • EC 3.6.4.12 4
  • EC 3.6.1 63

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 astatic epilepsy. Among its related pathways are Chromatin Regulation / Acetylation. GO annotations related to this gene include ATP-dependent DNA helicase activity. 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

Genomic Location for CHD2 Gene

Start:
92,900,321 bp from pter
End:
93,028,007 bp from pter
Size:
127,687 bases
Orientation:
Plus strand

Genomic View for CHD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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).

    Alternative splice isoforms for CHD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHD2 Gene

Proteomics data for CHD2 Gene at MOPED

Post-translational modifications for CHD2 Gene

  • Ubiquitination at Lys1062
  • Modification sites at PhosphoSitePlus

Other Protein References for CHD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for CHD2 Gene

Graphical View of Domain Structure for InterPro Entry

O14647

UniProtKB/Swiss-Prot:

CHD2_HUMAN :
  • O14647
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

No data available for Gene Families for CHD2 Gene

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

Animal Model Products

CRISPR Products

miRNA for CHD2 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHD2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting 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
nucleus 3

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 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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

Transcripts for CHD2 Gene

mRNA/cDNA for CHD2 Gene

(246) Selected AceView cDNA sequences:
(15) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHD2 Gene

Chromodomain helicase DNA binding protein 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHD2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CHD2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHD2 Gene

SOURCE GeneReport for Unigene cluster for CHD2 Gene Hs.220864

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

In Situ Assay Products

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia CHD2 35
  • 99.77 (n)
  • 99.92 (a)
CHD2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHD2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHD2 35
  • 92.88 (n)
  • 98.47 (a)
CHD2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chd2 35
  • 90.24 (n)
  • 96.5 (a)
Chd2 16
Chd2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHD2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHD2 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chd2 35
  • 90.68 (n)
  • 96.72 (a)
chicken
(Gallus gallus)
Aves CHD2 35
  • 80.53 (n)
  • 89.4 (a)
CHD2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHD2 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3342 35
tropical clawed frog
(Silurana tropicalis)
Amphibia chd2 35
  • 73.73 (n)
  • 79.71 (a)
zebrafish
(Danio rerio)
Actinopterygii chd2 35
  • 69.54 (n)
  • 72.98 (a)
chd2 36
  • 74 (a)
OneToOne
Dr.15242 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008698 35
  • 56.7 (n)
  • 57.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta Chd1 35
  • 53.49 (n)
  • 50.94 (a)
Chd1 36
  • 45 (a)
OneToMany
Chd1 37
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea chd-1 35
  • 57.03 (n)
  • 55.77 (a)
chd-1 36
  • 48 (a)
OneToMany
H06O01.2 37
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHD1 36
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CHR5 35
  • 51.4 (n)
  • 46.82 (a)
rice
(Oryza sativa)
Liliopsida Os07g0660200 35
  • 52.84 (n)
  • 49.28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
Species with no ortholog for CHD2:
  • 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 MAF
rs1623 -- 92,997,526(+) TTCTT(A/G)GAAAT intron-variant
rs9685 -- 93,027,798(+) TTTTT(C/T)TTTAT utr-variant-3-prime
rs12312 -- 93,027,603(-) CCTAA(A/T)TCAAC utr-variant-3-prime
rs13759 -- 93,027,493(+) AGTCA(C/T)TCCTC utr-variant-3-prime
rs930418 -- 93,001,448(-) TCTTG(C/G)AGCTA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv904499 CNV Gain 21882294
esv2567952 CNV Deletion 19546169
esv2229244 CNV Deletion 18987734
esv4137 CNV Deletion 18987735
esv1010129 CNV Deletion 20482838
esv9274 CNV Loss 19470904
esv2750049 CNV Deletion 23290073
esv1475283 CNV Deletion 17803354
nsv904500 CNV Gain 21882294
esv268591 CNV Insertion 20981092
nsv520601 CNV Loss 19592680
dgv157n21 CNV Loss 19592680
dgv2437n71 CNV Loss 21882294
nsv523617 CNV Loss 19592680

Relevant External Links for CHD2 Gene

HapMap Linkage Disequilibrium report
CHD2
Human Gene Mutation Database (HGMD)
CHD2

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

Disorders for CHD2 Gene

(1) OMIM Diseases for CHD2 Gene (602119)

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.

(1) University of Copenhagen DISEASES for CHD2 Gene

Relevant External Links for CHD2

Genetic Association Database (GAD)
CHD2
Human Genome Epidemiology (HuGE) Navigator
CHD2
genes like me logo Genes that share disorders with CHD2: view

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
  2. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody M.C. … Nusbaum C. (Nature 2006) 3 4
  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 48
  4. 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
  5. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. (PMID: 24207121) Suls A. … Helbig I. (Am. J. Hum. Genet. 2013) 3

Products for CHD2 Gene

Sources for CHD2 Gene

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