Aliases for CHD2 Gene
Aliases for CHD2 Gene
External Ids for CHD2 Gene
- HGNC: 1917
- Entrez Gene: 1106
- Ensembl: ENSG00000173575
- OMIM: 602119
- UniProtKB: O14647
Previous GeneCards Identifiers for CHD2 Gene
- GC15P089886
- GC15P087276
- GC15P091030
- GC15P091173
- GC15P091244
- GC15P093443
- GC15P069580
- GC15P093533
- GC15P093924
- GC15P094240
- GC15P094584
Summaries 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 Lennox-Gastaut Syndrome. 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 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).
Additional gene information for CHD2 Gene
- Monarch Initiative
- Search for CHD2 at DataMed
- Search for CHD2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHD2 Gene
Genomics for CHD2 Gene
GeneHancer (GH) Regulatory Elements for CHD2 Gene
Promoters and enhancers for CHD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CHD2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CHD2 gene promoter:
-
- E2F-1
- PPAR-gamma2
- E2F
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- Pbx1a
- Pax-5
- CBF(2)
Regulatory Element Products
Genomic Locations for CHD2 Gene
Genomic Locations for CHD2 Gene
- chr15:92,900,189-93,028,007
- (GRCh38/hg38)
- Size:
- 127,819 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:
-
- 15q26.1 by Entrez Gene
- 15q26.1 by HGNC
- 15q26.1 by Ensembl
CHD2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for CHD2 Gene
Post-translational modifications for CHD2 Gene
Other Protein References for CHD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CHD2
- Novus Biologicals Antibodies for CHD2
- Invitrogen Antibodies for CHD2
- GeneTex CHD2 Antibody for CHD2
-
Boster Bio Antibodies for CHD2
Protein Products
-
OriGene Purified Proteins for CHD2
- Search Origene for MassSpec and Protein Over-expression Lysates for CHD2
- Origene Custom Protein Services for CHD2
- antibodies-online: Search results for available CHD2 related products ranked by validation data
- Search GeneTex for Proteins for CHD2
Assay Products
- antibodies-online: Search results for available CHD2 related products ranked by validation data
No data available for DME Specific Peptides for CHD2 Gene
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
Suggested Antigen Peptide Sequences for CHD2 Gene
Graphical View of Domain Structure for InterPro Entry
O14647- Family:
-
- Belongs to the SNF2/RAD54 helicase family.
Function for CHD2 Gene
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:
- ATP + H(2)O = ADP + phosphate.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001046 | core promoter sequence-specific DNA binding | ISS | -- |
| GO:0003677 | DNA binding | TAS,IEA | 9326634 |
| GO:0003723 | RNA binding | HDA | 22658674 |
| GO:0004003 | ATP-dependent DNA helicase activity | TAS | 9326634 |
| GO:0004386 | helicase activity | IEA | -- |
Phenotypes for CHD2 Gene
- MGI mutant phenotypes for CHD2:
-
inferred from 2 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- vision/eye phenotype
- homeostasis/metabolism phenotype
- behavior/neurological phenotype
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for CHD2:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased viability
- no effect
- Decreased Aire reporter expression
- Increased vaccinia virus (VACV) infection
- Increased shRNA abundance
- shRNA abundance <= 50%
Animal Models for CHD2 Gene
- MGI Knock Outs for CHD2:
-
- Chd2 Chd2<tm1b(EUCOMM)Hmgu>
Animal Model Products
-
Taconic Biosciences Mouse Models for CHD2
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHD2
-
CRISPR Products
-
OriGene CRISPR knockouts for CHD2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHD2
- genomics-online: gRNA clones - Search results for 85 available CHD2 gene related products
- Overview of 85 available CHD2 gene related products
- Applied Biological Materials CRISPR for CHD2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHD2
- GenScript: Design CRISPR guide RNA sequences for CHD2
miRNA for CHD2 Gene
- miRTarBase miRNAs that target CHD2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHD2
- Browse OriGene Inhibitory RNA Products For CHD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD2
- genomics-online: shRNA clones - Search results for 85 available CHD2 gene related products
- Overview of 85 available CHD2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CHD2
- VectorBuilder custom plasmid, inducible vectors for CHD2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHD2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CHD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHD2
- Applied Biological Materials Clones for CHD2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line 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}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
- Nucleus (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | ISS,IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
| GO:0070062 | extracellular exosome | HDA | -- |
Pathways & Interactions for CHD2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin Regulation / Acetylation | ||
Pathways by source for CHD2 Gene
1 Cell Signaling Technology pathway for CHD2 Gene
Interacting Proteins for CHD2 Gene
Selected Interacting proteins:
O14647-CHD2_HUMAN
ENSP00000377747
for CHD2 Gene via
IID
UniProtKB
MINT
STRING
GPS-Prot Interaction Network for CHD2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 9326634 |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
No data available for SIGNOR curated interactions for CHD2 Gene
Drugs & Compounds for CHD2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
Transcripts for CHD2 Gene
mRNA/cDNA for CHD2 Gene
- (2) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (246) Selected AceView cDNA sequences:
- (29) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000394196 9363 bps (uc002bsp.4)
- ENST00000420239 2221 bps (uc002bsn.4)
- ENST00000625243 361 bps (uc059nmp.1)
- ENST00000625463 340 bps (uc059nmt.1)
- ENST00000625662 5127 bps (uc059nmw.1)
Unigene Clusters for CHD2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CHD2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHD2
- genomics-online: gRNA clones - Search results for 85 available CHD2 gene related products
- Overview of 85 available CHD2 gene related products
- Applied Biological Materials CRISPR for CHD2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHD2
- GenScript: Design CRISPR guide RNA sequences for CHD2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHD2
- Browse OriGene Inhibitory RNA Products For CHD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD2
- genomics-online: shRNA clones - Search results for 85 available CHD2 gene related products
- Overview of 85 available CHD2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CHD2
- VectorBuilder custom plasmid, inducible vectors for CHD2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHD2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CHD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHD2
- Applied Biological Materials Clones for CHD2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CHD2 Gene:
CHD2SOURCE GeneReport for Unigene cluster for CHD2 Gene:
Hs.220864Evidence on tissue expression from TISSUES for CHD2 Gene
- Liver(4.6)
- Skin(4.3)
- Blood(4.2)
- Nervous system(3.6)
- Lung(3.5)
- Bone marrow(2.3)
- Spleen(2)
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
Primer Products
-
OriGene qPCR primer pairs for CHD2
- genomics-online: primer clones - Search results for 85 available CHD2 gene related products
- Overview of 85 available CHD2 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CHD2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CHD2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CHD2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CHD2 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Chd2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Chd2 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CHD2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CHD2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CHD2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | chd2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3342 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | chd2 34 33 |
|
OneToOne | |
| Dr.15242 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008698 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Chd1 34 35 33 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | chd-1 34 33 |
|
OneToMany | |
| H06O01.2 35 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CHD1 34 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | CHR5 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os07g0660200 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CHD2: view image
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
Variants for CHD2 Gene
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1015228436 | uncertain-significance, Epileptic encephalopathy, childhood-onset | 92,984,505(+) | T/G | genic_downstream_transcript_variant, intron_variant | |
| rs1060503517 | pathogenic, Epileptic encephalopathy, childhood-onset | 92,942,894(+) | GTGGTG/G | coding_sequence_variant, frameshift | |
| rs1060503518 | uncertain-significance, Epileptic encephalopathy, childhood-onset | 92,953,547(+) | A/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs1060503519 | uncertain-significance, Epileptic encephalopathy, childhood-onset | 92,945,835(+) | A/G | coding_sequence_variant, missense_variant | |
| rs1060503520 | uncertain-significance, Epileptic encephalopathy, childhood-onset | 92,953,524(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv957969 | CNV | deletion | 24416366 |
| nsv523617 | CNV | loss | 19592680 |
| nsv520601 | CNV | loss | 19592680 |
| nsv1146550 | CNV | deletion | 26484159 |
| nsv1070477 | CNV | deletion | 25765185 |
| nsv1052724 | CNV | gain | 25217958 |
| esv9274 | CNV | loss | 19470904 |
| esv4137 | CNV | loss | 18987735 |
| esv3637274 | CNV | gain | 21293372 |
| esv3552857 | CNV | deletion | 23714750 |
| esv3343910 | CNV | insertion | 20981092 |
| esv3327654 | CNV | insertion | 20981092 |
| esv3304312 | CNV | mobile element insertion | 20981092 |
| esv3214901 | CNV | deletion | 24192839 |
| esv2750049 | CNV | deletion | 23290073 |
| esv2567952 | CNV | deletion | 19546169 |
| esv2229244 | CNV | deletion | 18987734 |
| esv1475283 | CNV | deletion | 17803354 |
| esv1010129 | CNV | deletion | 20482838 |
| dgv2660n100 | CNV | gain | 25217958 |
| dgv157n21 | CNV | loss | 19592680 |
| dgv1264n106 | CNV | deletion | 24896259 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHD2 Gene
Disorders for CHD2 Gene
(7) MalaCards diseases for CHD2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, childhood-onset |
|
|
| lennox-gastaut syndrome |
|
|
| myoclonic-astastic epilepsy |
|
|
| benign epilepsy with centrotemporal spikes |
|
|
| chd2 myoclonic encephalopathy |
|
|
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
No data available for Genatlas for CHD2 Gene
Publications for CHD2 Gene
- 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 58
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PMID: 23708187) Carvill GL … Mefford HC (Nature genetics 2013) 3 4 58
- 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 44 58
- Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody MC … Nusbaum C (Nature 2006) 3 4 58
- PARP1 Links CHD2-Mediated Chromatin Expansion and H3.3 Deposition to DNA Repair by Non-homologous End-Joining. (PMID: 26895424) Luijsterburg MS … van Attikum H (Molecular cell 2016) 3 58
Products for CHD2 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for CHD2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CHD2
- Search Origene for MassSpec and Protein Over-expression Lysates for CHD2
- Origene Custom Protein Services for CHD2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHD2
- Browse OriGene Inhibitory RNA Products For CHD2
- OriGene qPCR primer pairs for CHD2
- OriGene CRISPR knockouts for CHD2
- OriGene ORF clones in human for CHD2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CHD2
- GenScript: Next-day shipping of latest version cDNA ORF clones for CHD2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CHD2
- GenScript Custom Assay Services for CHD2
- GenScript Custom overexpressing Cell Line Services for CHD2
- GenScript: Design CRISPR guide RNA sequences for CHD2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CHD2
- Sino Biological Human cDNA Clone for CHD2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CHD2
- Novus Biologicals proteins and lysates for CHD2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Taconic Biosciences Mouse Models for CHD2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- VectorBuilder custom plasmid, inducible vectors for CHD2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHD2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CHD2
- antibodies-online: Search results for 34 available CHD2 Antibodies ranked by validation data
- Compare Top CHD2 Antibodies
- antibodies-online: Search results for available CHD2 related products ranked by validation data
- antibodies-online: Search results for available CHD2 related products ranked by validation data
- GeneTex CHD2 Antibody for CHD2
- Search GeneTex for Proteins for CHD2
- genomics-online: cdna clones - Search results for 85 available CHD2 gene related products
- Overview of 85 available CHD2 gene related products
- orf clones - Search results for 85 available CHD2 gene related products
- Overview of 85 available CHD2 gene related products
- genomics-online: gRNA clones - Search results for 85 available CHD2 gene related products
- Overview of 85 available CHD2 gene related products
- genomics-online: primer clones - Search results for 85 available CHD2 gene related products
- Overview of 85 available CHD2 gene related products
- genomics-online: shRNA clones - Search results for 85 available CHD2 gene related products
- Overview of 85 available CHD2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHD2
- GeneCopoeia miRNA 3'UTR Target clone products for CHD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD2
- Boster Bio Antibodies for CHD2
- Browse Boster Bio ELISA Kits
Sources for CHD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt