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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
  • EC 3.6.4.12 4
  • EC 3.6.1 63
  • 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 CHD3.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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).

    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

  • 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 IEA,TAS 9326634
GO:0004003 ATP-dependent DNA helicase activity TAS 9326634
GO:0044822 poly(A) RNA binding IDA 22658674
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

miRNA for CHD2 Gene

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: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:0006355 regulation of transcription, DNA-templated IEA --
GO:0007517 muscle organ development ISS --
GO:0032508 DNA duplex unwinding TAS 9326634
GO:0060218 hematopoietic stem cell differentiation 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

(1) Drugs for CHD2 Gene - From: HMDB

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

(3) 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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, MOPED, and MaxQB for CHD2 Gene



SOURCE GeneReport for Unigene cluster for CHD2 Gene Hs.220864

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

Protein tissue co-expression partners for CHD2 Gene

- Elite partner

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 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
chimpanzee
(Pan troglodytes)
Mammalia CHD2 35
  • 99.77 (n)
  • 99.92 (a)
CHD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chd2 35
  • 90.68 (n)
  • 96.72 (a)
cow
(Bos Taurus)
Mammalia CHD2 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHD2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHD2 36
  • 89 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia chd2 35
  • 73.73 (n)
  • 79.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3342 35
zebrafish
(Danio rerio)
Actinopterygii chd2 35
  • 69.54 (n)
  • 72.98 (a)
Dr.15242 35
chd2 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Chd1 37
  • 54 (a)
Chd1 35
  • 53.49 (n)
  • 50.94 (a)
Chd1 36
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008698 35
  • 56.7 (n)
  • 57.96 (a)
worm
(Caenorhabditis elegans)
Secernentea H06O01.2 37
  • 53 (a)
chd-1 35
  • 57.03 (n)
  • 55.77 (a)
chd-1 36
  • 48 (a)
OneToMany
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
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)
rs1623 -- 92,997,526(+) TTCTT(A/G)GAAAT intron-variant
rs9685 -- 93,027,798(+) TTTTT(C/T)TTTAT utr-variant-3-prime

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

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

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

Disorders for CHD2 Gene

MalaCards: The human disease database

(5) 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
photosensitive epilepsy
  • photoparoxysmal response 1
dravet syndrome
  • dravet syndrome, modifier of
- 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 67
  2. Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domains. (PMID: 25384982) Liu J.C. … Yusufzai T. (J. Biol. Chem. 2015) 3
  3. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. (PMID: 25672921) Thomas R.H. … Scheffer I.E. (Neurology 2015) 3
  4. CHD2 variants are a risk factor for photosensitivity in epilepsy. (PMID: 25783594) Galizia E.C. … Sisodiya S.M. (Brain 2015) 3
  5. Mutations in CHD2 cause defective association with active chromatin in chronic lymphocytic leukemia. (PMID: 26031915) RodrA-guez D. … LA^pez-OtA-n C. (Blood 2015) 3

Products for CHD2 Gene

Sources for CHD2 Gene

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