CHD2 Gene (Protein Coding)

Chromodomain Helicase DNA Binding Protein 2

GC15P092900
GIFtS:
43
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... See more...

Aliases for CHD2 Gene

Aliases for CHD2 Gene

  • Chromodomain Helicase DNA Binding Protein 2 2 3 5
  • Chromodomain-Helicase-DNA-Binding Protein 2 3 4
  • ATP-Dependent Helicase CHD2 3 4
  • CHD-2 3 4
  • DKFZp686E01200 2
  • DKFZp547I1315 2
  • DKFZp781D1727 2
  • EC 3.6.4.12 4
  • FLJ38614 2
  • EC 3.6.1 51
  • EEOC 3
  • CHD2 5

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. Gene Ontology (GO) annotations related to this gene include core promoter sequence-specific DNA binding. An important paralog of this gene is CHD1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CHD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHD2 Gene

Genomics for CHD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CHD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH15J092898 Promoter/Enhancer 2.5 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 671.4 +9.0 8980 20.4 CEBPG SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 ATF7 TEAD4 PRDM10 CHD2 HMGN1P38 FAM174B ASB9P1 MIR3175 ENSG00000279765 NONHSAG017954.2 ENSG00000272888 RGMA
GH15J092876 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 611 -17.3 -17278 12.3 SP1 CREB1 GATAD2A PRDM10 ZNF629 REST RFX1 LEF1 IKZF1 RFX5 CHD2 CHASERR ENSG00000279765 lnc-FAM174B-10 FAM174B C15orf32 ENSG00000272888
GH15J092892 Promoter/Enhancer 0.7 EPDnew dbSUPER 600.4 -8.1 -8134 0.1 RBFOX2 POLR2A CHD2 FAM174B CHASERR ENSG00000279765 ENSG00000272888
GH15J092927 Promoter 0.3 EPDnew 600.3 +27.1 27066 0.1 CHD2 NONHSAG017954.2 MIR3175 ENSG00000279765 RGMA
GH15J092800 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 66.6 -93.0 -93027 14.1 ZNF221 CEBPG SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ENSG00000258922 ENSG00000274215 FAM174B CHD2 ASB9P1 lnc-FAM174B-2 ST8SIA2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHD2

Top Transcription factor binding sites by QIAGEN in the CHD2 gene promoter:
  • CBF(2)
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Pax-5
  • Pbx1a
  • PPAR-gamma2

Genomic Locations for CHD2 Gene

Genomic Locations for CHD2 Gene
chr15:92,900,189-93,027,996
(GRCh38/hg38)
Size:
127,808 bases
Orientation:
Plus strand
chr15:93,426,526-93,571,237
(GRCh37/hg19)
Size:
144,712 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 Structure • Gene Density

RefSeq DNA sequence for CHD2 Gene

Proteins for CHD2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CHD2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CHD2 Gene

O14647:
  • VLIFSQMVR
  • DSDWNPQ
  • IFDSDWNP
  • FLLSTRA
  • DEMGLGKT
  • ERMRPVK
  • AGGLGINL
  • DEAHRLK
  • TGTPLQN
  • RVLIFSQM
  • RAHRIGQ
  • LLHFIMP
  • LSTRAGGLG
  • MGLGKTIQ

Post-translational modifications for CHD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CHD2 Gene

Gene Families for CHD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CHD2 Gene

InterPro:
Blocks:
  • Chromo domain
  • ATP-dependent helicase, DEAH-box
  • SNF2 related domain
ProtoNet:

Suggested Antigen Peptide Sequences for CHD2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53879, highly similar to Chromodomain-helicase-DNA-binding protein 2 (EC 3.6.1.-) (B7Z3I4_HUMAN)
  • ATP-dependent helicase CHD2 (CHD2_HUMAN)
  • Chromodomain helicase DNA binding protein 2 (Q8N677_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14647

UniProtKB/Swiss-Prot:

CHD2_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with CHD2: view

Function for CHD2 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for CHD2 Gene

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;.
GENATLAS Biochemistry:
DNA binding protein with two chromatin organization (chromo) domains,and a helicase domain,2,component of the chromatin remodeling complex

Enzyme Numbers (IUBMB) for CHD2 Gene

Phenotypes From GWAS Catalog for CHD2 Gene

Gene Ontology (GO) - Molecular Function for CHD2 Gene

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
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 Chd2<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for CHD2

CRISPR Products

miRNA for CHD2 Gene

miRTarBase miRNAs that target CHD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD2

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 the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHD2 Gene

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 --
genes like me logo Genes that share ontologies with CHD2: view

No data available for Subcellular locations from COMPARTMENTS for CHD2 Gene

Pathways & Interactions for CHD2 Gene

PathCards logo

SuperPathways 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: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 --
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

Products:

  1. Drug

(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
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with CHD2: view

Transcripts for CHD2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CHD2 Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD2

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

Expression for CHD2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHD2 Gene

mRNA expression in normal human tissues for CHD2 Gene
mRNA expression by BioGPS for CHD2 GenemRNA expression by GTEx 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, MaxQB, and MOPED for CHD2 Gene



Protein tissue co-expression partners for CHD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHD2

SOURCE GeneReport for Unigene cluster for CHD2 Gene:

Hs.220864

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHD2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
genes like me logo Genes that share expression patterns with CHD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 30 31
  • 99.77 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CHD2 31
  • 97 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CHD2 31
  • 93 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CHD2 30 31
  • 92.88 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Chd2 30
  • 90.68 (n)
Mouse
(Mus musculus)
 Mammalia Chd2 30 17 31
  • 90.24 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CHD2 31
  • 89 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CHD2 30 31
  • 80.53 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CHD2 31
  • 81 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia chd2 30
  • 73.73 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.3342 30
Zebrafish
(Danio rerio)
 Actinopterygii chd2 30 31
  • 69.54 (n)
 OneToOne
Dr.15242 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008698 30
  • 56.7 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Chd1 30 31 32
  • 53.49 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea chd-1 30 31
  • 57.03 (n)
 OneToMany
H06O01.2 32
  • 53 (a)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CHD1 31
  • 35 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons CHR5 30
  • 51.4 (n)
Rice
(Oryza sativa)
 Liliopsida Os07g0660200 30
  • 52.84 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 55 (a)
 OneToMany
Species where no ortholog for CHD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CHD2: view image

Paralogs for CHD2 Gene

Paralogs for CHD2 Gene

(11) SIMAP similar genes for CHD2 Gene using alignment to 8 proteins:

  • CHD2_HUMAN
  • B7Z3I4_HUMAN
  • G3V418_HUMAN
  • G3V4S8_HUMAN
  • H3BU65_HUMAN
  • J3KRM9_HUMAN
  • J3QR73_HUMAN
  • Q8N677_HUMAN
genes like me logo Genes that share paralogs with CHD2: view

Variants for CHD2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHD2 Gene

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

Additional dbSNP identifiers (rs#s) for CHD2 Gene

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)

Additional Variant Information for CHD2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CHD2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CHD2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, and GeneCards

- 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, ECO:0000269 PubMed:25356899}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 FS (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4
  2. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PMID: 23708187) Carvill GL … Mefford HC (Nature genetics 2013) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody MC … Nusbaum C (Nature 2006) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for CHD2 gene in Mastermind

Products for CHD2 Gene

  • Addgene plasmids for CHD2
  • Signalway Proteins for CHD2

Sources for CHD2 Gene