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This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may pla... See more...
Aliases for CHD5 Gene
Aliases for CHD5 Gene
External Ids for CHD5 Gene
- HGNC: 16816
- NCBI Entrez Gene: 26038
- Ensembl: ENSG00000116254
- OMIM®: 610771
- UniProtKB/Swiss-Prot: Q8TDI0
Previous GeneCards Identifiers for CHD5 Gene
- GC01M005970
- GC01M005758
- GC01M005871
- GC01M006096
- GC03U900582
- GC01M005310
- GC01M006161
Summaries for CHD5 Gene
-
This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]
GeneCards Summary for CHD5 Gene
CHD5 (Chromodomain Helicase DNA Binding Protein 5) is a Protein Coding gene. Diseases associated with CHD5 include Neuroblastoma and Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency. Among its related pathways are Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides. An important paralog of this gene is CHD4.
UniProtKB/Swiss-Prot Summary for CHD5 Gene
-
Chromatin-remodeling protein that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non-methylated 'Lys-4' of histone H3. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at 'Lys-27' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Tumor suppressor, it regulates the expression of genes involved in cell proliferation and differentiation. Downstream activated genes may include CDKN2A that positively regulates the p53/TP53 pathway, which in turn, prevents cell proliferation. In spermatogenesis, it probably regulates histone hyperacetylation and the replacement of histones by transition proteins in chromatin, a crucial step in the condensation of spermatid chromatin and the production of functional spermatozoa.
Additional gene information for CHD5 Gene
- HGNC (16816)
- NCBI Entrez Gene (26038)
- Ensembl (ENSG00000116254)
- OMIM® (610771)
- UniProtKB/Swiss-Prot (Q8TDI0)
- Open Targets Platform(ENSG00000116254)
- Monarch Initiative
- Search for CHD5 at DataMed
- Search for CHD5 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHD5 Gene
Genomics for CHD5 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CHD5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CHD5 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHD5
- Top Transcription factor binding sites by QIAGEN in the CHD5 gene promoter:
-
- AREB6
- Brachyury
- Egr-1
- Egr-4
- FOXL1
- GATA-3
- Nkx2-2
- NRSF form 1
- NRSF form 2
- Pax-4a
Genomic Locations for CHD5 Gene
Latest Assembly
- chr1:6,101,787-6,180,321
- (GRCh38/hg38)
- Size:
- 78,535 bases
- Orientation:
- Minus strand
Previous Assembly
- chr1:6,161,847-6,240,381
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 78,535 bases
- Orientation:
- Minus strand
- chr1:6,161,853-6,240,183
- (GRCh37/hg19 by Ensembl)
- Size:
- 78,331 bases
- Orientation:
- Minus strand
Genomic View for CHD5 Gene
Genes around CHD5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.31 by HGNC
- 1p36.31 by Entrez Gene
- 1p36.31 by Ensembl
CHD5 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 CHD5 Gene
Proteins for CHD5 Gene
-
Protein details for CHD5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TDI0-CHD5_HUMAN
- Recommended name:
- Chromodomain-helicase-DNA-binding protein 5
- Protein Accession:
- Q8TDI0
- O75032
- Q5TG89
- Q7LGH2
- Q9UFR9
Protein attributes for CHD5 Gene
- Size:
- 1954 amino acids
- Molecular mass:
- 223050 Da
- Quaternary structure:
-
- May be part of a nucleosome remodeling and histone deacetylation, NuRD-like, complex composed at least of GATAD2B, HDAC1, HDAC2 and MTA3.
Protein Expression for CHD5 Gene
Selected DME Specific Peptides for CHD5 Gene
- Q8TDI0:
-
- AGNKPANAVLHKVL
- RWQDIQND
- DEMGLGKT
- DEAHRLK
- TGTPLQN
- VLLTSYELI
- KMMLTHLVVRPG
- ETFADGVPREGLSRQ
- GHRVLIF
- NQSKFFR
- FLLSTRA
- YKYERIDGGITG
- NEYLSSFKVA
- AGGLGINL
- LVVDEAH
- FLYSLYKEGH
- RVLIFSQM
- PEGKWSCPHCE
- RAHRIGQ
- DSDWNPH
- GLGKTVQ
- LSTRAGGLG
Post-translational modifications for CHD5 Gene
- Methylated at Gln-1390 by N6AMT1.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for CHD5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ CHD5 Polyclonal Antibody and Immunotag™ CHD5 Antibody
-
Custom Antibody ServicesOriGene Antibodies for CHD5
- Novus Biologicals Antibodies for CHD5
-
Abcam antibodies for CHD5
- Invitrogen Antibodies for CHD5 (AFLGC-CHD5)
-
Boster Bio Antibodies for CHD5
-
Santa Cruz Biotechnology (SCBT) Antibodies for CHD5
- Sino Biological Antibodies for CHD5
Protein products for research
-
OriGene Purified Proteins for CHD5
- Search Origene for MassSpec and Protein Over-expression Lysates for CHD5
- Origene Custom Protein Services for CHD5
- Novus Biologicals proteins for CHD5
- antibodies-online: Search results for available CHD5 related products ranked by validation data
Assay products for research
- Novus Biologicals ELISA Kits for CHD5
- antibodies-online: Show 18 available CHD5 Elisa Kits ranked by validation data
- Compare Top CHD5 Elisa Kits
-
Quality Products:
Domains & Families for CHD5 Gene
Gene Families for CHD5 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for CHD5 Gene
- InterPro:
- Blocks:
-
- Zn-finger, RING
- Zn-finger-like, PHD finger
- Chromo domain
- ATP-dependent helicase, DEAH-box
- SNF2 related domain
- CHD, C-terminal 2
- CHD, N-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for CHD5 Gene
- GenScript: Design optimal peptide antigens:
-
- ATP-dependent helicase CHD5 (CHD5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8TDI0UniProtKB/Swiss-Prot:
CHD5_HUMAN :- The PHD domains mediate specific binding to histone H3 unmethylated at 'Lys-4' and may preferentially recruit the protein to transcriptionally inactive genes.
- Belongs to the SNF2/RAD54 helicase family.
- Domain:
-
- The PHD domains mediate specific binding to histone H3 unmethylated at 'Lys-4' and may preferentially recruit the protein to transcriptionally inactive genes.
- The chromo domains mediate specific binding to histone H3 trimethylated at 'Lys-27' (H3K27me3) and may be required in neuron differentiation for proper gene regulation.
- Family:
-
- Belongs to the SNF2/RAD54 helicase family.
Function for CHD5 Gene
Molecular function for CHD5 Gene
- UniProtKB/Swiss-Prot Function:
- Chromatin-remodeling protein that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non-methylated 'Lys-4' of histone H3. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at 'Lys-27' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Tumor suppressor, it regulates the expression of genes involved in cell proliferation and differentiation. Downstream activated genes may include CDKN2A that positively regulates the p53/TP53 pathway, which in turn, prevents cell proliferation. In spermatogenesis, it probably regulates histone hyperacetylation and the replacement of histones by transition proteins in chromatin, a crucial step in the condensation of spermatid chromatin and the production of functional spermatozoa.
- 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;.
Enzyme Numbers (IUBMB) for CHD5 Gene
Phenotypes From GWAS Catalog for CHD5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003678 | DNA helicase activity | IEA | -- |
| GO:0004386 | helicase activity | IEA | -- |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for CHD5 Gene
- MGI mutant phenotypes for CHD5:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CHD5:
-
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased shRNA abundance (Z-score > 2)
- Downregulation of Wnt pathway after Wnt3A stimulation
- Increased virus production
Animal Models for CHD5 Gene
- MGI Knock Outs for CHD5:
-
- Chd5 Chd5<tm1.2Gmbr>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CHD5 - Starting at $85 >
- * CHD5 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CHD5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHD5
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHD5
miRNA for CHD5 Gene
- miRTarBase miRNAs that target CHD5
-
- hsa-miR-744-5p (MIRT037503)
- hsa-miR-615-3p (MIRT040349)
- hsa-miR-1256 (MIRT790062)
- hsa-miR-204-5p (MIRT790162)
- hsa-miR-211-5p (MIRT790180)
- hsa-miR-2355-3p (MIRT790194)
- hsa-miR-329-5p (MIRT790281)
- hsa-miR-4446-5p (MIRT790453)
- hsa-miR-4464 (MIRT790463)
- hsa-miR-4646-3p (MIRT790534)
- hsa-miR-4748 (MIRT790605)
- hsa-miR-4755-5p (MIRT790612)
- hsa-miR-5006-3p (MIRT790673)
- hsa-miR-623 (MIRT790832)
- hsa-miR-6832-3p (MIRT791009)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHD5
- Browse OriGene Inhibitory RNA Products For CHD5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD5
Clone products for research
- Applied Biological Materials (abm): Clones for CHD5 - Starting at $45 >
- * CHD5 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CHD5
- Addgene plasmids for CHD5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHD5
Cell Lines for research
-
Horizon Cell Lines for CHD5
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CHD5 Gene
Localization for CHD5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CHD5 Gene
- Nucleus. Note=Associates with heterochromatin. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| extracellular | 1 |
| cytoskeleton | 1 |
- Nuclear speckles (3)
- Nucleoplasm (3)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000792 | heterochromatin | ISS | -- |
| GO:0005634 | nucleus | IEA,IDA | 21931736 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005829 | cytosol | IDA | -- |
| GO:0016020 | membrane | HDA | 19946888 |
Pathways & Interactions for CHD5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin Regulation / Acetylation | ||
Pathways by source for CHD5 Gene
1 Cell Signaling Technology pathway for CHD5 Gene
Interacting Proteins for CHD5 Gene
GPS-Prot Interaction Network for CHD5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IMP | 23948251 |
| GO:0007283 | spermatogenesis | IEA | -- |
| GO:0007399 | nervous system development | IEA | -- |
| GO:0008285 | negative regulation of cell proliferation | ISS | -- |
No data available for SIGNOR curated interactions for CHD5 Gene
Drugs & Compounds for CHD5 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
58-64-0 |
|
Transcripts for CHD5 Gene
mRNA/cDNA for CHD5 Gene
- 1 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262450 9850 nts (view in UCSC)
- ENST00000377999 3044 nts (view in UCSC)
- ENST00000462991 4396 nts (view in UCSC)
- ENST00000475121 558 nts (view in UCSC)
- ENST00000491020 646 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CHD5 - Starting at $85 >
- * CHD5 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CHD5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHD5
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHD5
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHD5
- Browse OriGene Inhibitory RNA Products For CHD5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHD5
Clone products for research
- Applied Biological Materials (abm): Clones for CHD5 - Starting at $45 >
- * CHD5 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CHD5
- Addgene plasmids for CHD5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHD5
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: |
| ExUns: | 23 | ^ | 24 | ^ | 25a | · | 25b | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41a | · | 41b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||
| SP5: |
Relevant External Links for CHD5 Gene
- GeneLoc Exon Structure for
- CHD5
Expression for CHD5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for CHD5 Gene
This gene is overexpressed in Brain - Cortex (x8.6), Pituitary (x7.1), Brain - Frontal Cortex (BA9) (x6.7), and Brain - Anterior cingulate cortex (BA24) (x5.9).
This gene is overexpressed in Brain (38.7), Synovial fluid (10.1), and Gallbladder (7.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHD5 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHD5
SOURCE GeneReport for Unigene cluster for CHD5 Gene:
Hs.522898mRNA Expression by UniProt/SwissProt for CHD5 Gene:
Q8TDI0-CHD5_HUMAN
Tissue specificity:
Preferentially expressed in total brain, fetal brain, and cerebellum. It is also moderately expressed in the adrenal gland and detected in testis.
Evidence on tissue expression from TISSUES for CHD5 Gene
- Nervous system(4.9)
- Pancreas(2.2)
- Blood(2.1)
Primer products for research
-
OriGene qPCR primer pairs for CHD5
Gene Expression Assays for research
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHD5 Gene
Orthologs for CHD5 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CHD5 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CHD5 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CHD5 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Chd5 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Chd5 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CHD5 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CHD5 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CHD5 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CHD5 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chd5 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | chd5 30 |
|
||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11169 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012009 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Mi-2 30 31 |
|
ManyToMany | |
| Chd3 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | chd-3 31 |
|
ManyToMany | |
| let-418 31 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CHD1 31 |
|
OneToMany | |
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.4332 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8509 31 |
|
OneToMany |
- Species where no ortholog for CHD5 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- Rice (Oryza sativa)
- 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)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for CHD5 Gene
- ENSEMBL:
- Gene Tree for CHD5 (if available)
- TreeFam:
- Gene Tree for CHD5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CHD5: view image
Paralogs for CHD5 Gene
Paralogs for CHD5 Gene
- CHD4 5
- CHD3 5
- ENSG00000285238 5
- CHD7 5
- CHD8 5
- CHD9 5
- CHD6 5
- CHD1 5
- CHD2 5
- CHD1L 5
- SRCAP 5
- SMARCA2 5
- SMARCA4 5
- ENSG00000282034 5
- SMARCA5 5
- ERCC6 5
- ATRX 5
- SMARCA1 5
- EP400 5
- INO80 5
- HELLS 5
- ERCC6L 5
- RAD54L2 5
- SMARCAD1 5
- RAD54B 5
- BTAF1 5
- RAD54L 5
- ZRANB3 5
- SHPRH 5
- TTF2 5
- SMARCAL1 5
- HLTF 5
- ENSG00000279765 5
(18) SIMAP similar genes for CHD5 Gene using alignment to 7 proteins:
- CHD5_HUMAN
- F2Z2R5_HUMAN
- F6T542_HUMAN
- K7EMC0_HUMAN
- K7EMY3_HUMAN
- K7ESA5_HUMAN
- Q5TG85_HUMAN
Variants for CHD5 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHD5 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 983057 | Uncertain Significance: Neurodevelopmental disorder | 6,111,775(-) |
G/A NM_015557.3(CHD5):c.5249C>T (p.Thr1750Met) |
MISSENSE | |
| rs112316734 | Benign: not provided | 6,152,418(-) |
G/A NM_015557.3(CHD5):c.864C>T (p.Gly288=) |
SYNONYMOUS | |
| rs112932753 | Benign: not provided | 6,151,087(-) |
G/C NM_015557.3(CHD5):c.939C>G (p.Ser313=) |
SYNONYMOUS | |
| rs115365176 | Benign: not provided | 6,112,153(-) |
G/A NM_015557.3(CHD5):c.5127C>T (p.Asp1709=) |
SYNONYMOUS | |
| rs115664978 | Benign: not provided | 6,121,240(-) |
G/A NM_015557.3(CHD5):c.4780-3C>T |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv75n54 | CNV | loss | 21841781 |
| dgv76n54 | CNV | gain | 21841781 |
| esv21998 | CNV | gain | 19812545 |
| esv2676924 | CNV | deletion | 23128226 |
| esv2739139 | CNV | deletion | 23290073 |
| esv2739250 | CNV | deletion | 23290073 |
| esv2739361 | CNV | deletion | 23290073 |
| esv2739473 | CNV | deletion | 23290073 |
| esv2739584 | CNV | deletion | 23290073 |
| esv3383496 | CNV | duplication | 20981092 |
| nsv1076981 | CNV | deletion | 25765185 |
| nsv1115334 | CNV | duplication | 24896259 |
| nsv1143431 | CNV | deletion | 24896259 |
| nsv1148543 | CNV | duplication | 26484159 |
| nsv1149305 | CNV | duplication | 26484159 |
| nsv461283 | CNV | loss | 19166990 |
| nsv470689 | CNV | loss | 18288195 |
| nsv545229 | CNV | loss | 21841781 |
| nsv545232 | CNV | gain | 21841781 |
| nsv545235 | CNV | loss | 21841781 |
| nsv545236 | CNV | loss | 21841781 |
| nsv818555 | CNV | loss | 17921354 |
| nsv825697 | CNV | gain | 20364138 |
| nsv831425 | CNV | loss | 17160897 |
| nsv854 | CNV | deletion | 18451855 |
Residual Variation Intolerance Score:
0.825% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.58;
44.76% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CHD5 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHD5 Gene
Disorders for CHD5 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuroblastoma |
|
|
| dystonia, dopa-responsive, due to sepiapterin reductase deficiency |
|
|
| charge syndrome |
|
|
| chromosome 1p36 deletion syndrome |
|
|
Search CHD5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CHD5_HUMAN- Note=Defects in CHD5 may be a cause of the development of cancers from epithelial, neural and hematopoietic origin. CHD5 is one of the missing genes in the del(1p36), a deletion which is extremely common in this type of cancers. A decrease of its expression, results in increased susceptibility of cells to Ras-mediated transformation in vitro and in vivo (PubMed:17289567). {ECO:0000269 PubMed:17289567}.
Additional Disease Information for CHD5
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for CHD5 Gene
Publications for CHD5 Gene
- CHD5, a new member of the chromodomain gene family, is preferentially expressed in the nervous system. (PMID: 12592387) Thompson PM … Brodeur GM (Oncogene 2003) 2 3 4
- CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression. (PMID: 23948251) Egan CM … Bracken AP (Developmental cell 2013) 3 4
- CHD5, a brain-specific paralog of Mi2 chromatin remodeling enzymes, regulates expression of neuronal genes. (PMID: 21931736) Potts RC … Pazin MJ (PloS one 2011) 3 4
- CHD5 is down-regulated through promoter hypermethylation in gastric cancer. (PMID: 19840376) Wang X … Lam YW (Journal of biomedical science 2009) 3 23
- CHD5, a tumor suppressor gene deleted from 1p36.31 in neuroblastomas. (PMID: 18577749) Fujita T … Brodeur GM (Journal of the National Cancer Institute 2008) 3 23
ExternalLinks
Products for CHD5 Gene
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Sources for CHD5 Gene
- (1) GeneCards
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- (4) UniProtKB/Swiss-Prot
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- (7) GeneLoc
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