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Aliases for CHD6 Gene

Aliases for CHD6 Gene

  • Chromodomain Helicase DNA Binding Protein 6 2 3 5
  • Radiation-Induced Gene B Protein 3 4
  • ATP-Dependent Helicase CHD6 3 4
  • CHD-6 3 4
  • CHD5 3 4
  • RIGB 3 4
  • Helicase C-Terminal Domain- And SNF2 N-Terminal Domain-Containing Protein 3
  • EC 3.6.4.12 4
  • KIAA1335 4
  • EC 3.6.1 63

External Ids for CHD6 Gene

Previous GeneCards Identifiers for CHD6 Gene

  • GC20M039721
  • GC20M040669
  • GC20M040716
  • GC20M039464
  • GC20M040030
  • GC20M036768

Summaries for CHD6 Gene

Entrez Gene Summary for CHD6 Gene

  • This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013]

GeneCards Summary for CHD6 Gene

CHD6 (Chromodomain Helicase DNA Binding Protein 6) is a Protein Coding gene. Diseases associated with CHD6 include developmental coordination disorder and pitt-hopkins syndrome. GO annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is CHD3.

UniProtKB/Swiss-Prot for CHD6 Gene

  • Probable chromatin-remodeling protein with a DNA-dependent ATPase activity. May play a role in transcription regulation, activating for instance, the transcription of specific genes in response to oxidative stress through interaction with NFE2L2.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHD6 Gene

Genomics for CHD6 Gene

Regulatory Elements for CHD6 Gene

Promoters for CHD6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHD6 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHD6 Gene

Chromosome:
20
Start:
41,402,101 bp from pter
End:
41,618,494 bp from pter
Size:
216,394 bases
Orientation:
Minus strand

Genomic View for CHD6 Gene

Genes around CHD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHD6 Gene

Proteins for CHD6 Gene

  • Protein details for CHD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TD26-CHD6_HUMAN
    Recommended name:
    Chromodomain-helicase-DNA-binding protein 6
    Protein Accession:
    Q8TD26
    Secondary Accessions:
    • Q5JYQ0
    • Q5TGZ9
    • Q5TH00
    • Q5TH01
    • Q8IZR2
    • Q8WTY0
    • Q9H4H6
    • Q9H6D4
    • Q9NTT7
    • Q9P2L1

    Protein attributes for CHD6 Gene

    Size:
    2715 amino acids
    Molecular mass:
    305412 Da
    Quaternary structure:
    • Interacts with NFE2L2; involved in activation of the transcription. May interact with PPARA.
    SequenceCaution:
    • Sequence=AAK56405.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAN59903.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15325.1; Type=Miscellaneous discrepancy; Note=The sequence differs from position 1528 onward for unknown reasons.; Evidence={ECO:0000305}; Sequence=CAI21743.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22254.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHD6 Gene

    Alternative splice isoforms for CHD6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHD6 Gene

Proteomics data for CHD6 Gene at MOPED

Post-translational modifications for CHD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHD6 Gene

Domains & Families for CHD6 Gene

Gene Families for CHD6 Gene

Suggested Antigen Peptide Sequences for CHD6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TD26

UniProtKB/Swiss-Prot:

CHD6_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.
  • Contains 1 Myb-like domain.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with CHD6: view

Function for CHD6 Gene

Molecular function for CHD6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Probable chromatin-remodeling protein with a DNA-dependent ATPase activity. May play a role in transcription regulation, activating for instance, the transcription of specific genes in response to oxidative stress through interaction with NFE2L2.

Enzyme Numbers (IUBMB) for CHD6 Gene

Gene Ontology (GO) - Molecular Function for CHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0008094 DNA-dependent ATPase activity IDA 17027977
GO:0016817 hydrolase activity, acting on acid anhydrides IEA --
genes like me logo Genes that share ontologies with CHD6: view
genes like me logo Genes that share phenotypes with CHD6: view

Animal Models for CHD6 Gene

MGI Knock Outs for CHD6:

Animal Model Products

miRNA for CHD6 Gene

miRTarBase miRNAs that target CHD6

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CHD6 Gene

Localization for CHD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHD6 Gene

Nucleus, nucleoplasm. Note=Enriched at sites of mRNA synthesis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHD6 Gene COMPARTMENTS Subcellular localization image for CHD6 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for CHD6 Gene

Pathways & Interactions for CHD6 Gene

SuperPathways for CHD6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CHD6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CHD6 Gene

Drugs & Compounds for CHD6 Gene

(1) Drugs for CHD6 Gene - From: HMDB

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

(3) Additional Compounds for CHD6 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 CHD6: view

Transcripts for CHD6 Gene

Unigene Clusters for CHD6 Gene

Chromodomain helicase DNA binding protein 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHD6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - -
SP2: - - -
SP3: - -
SP4:
SP5: - - - - -
SP6: -
SP7: - - -
SP8:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40a · 40b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for CHD6 Gene

GeneLoc Exon Structure for
CHD6
ECgene alternative splicing isoforms for
CHD6

Expression for CHD6 Gene

mRNA expression in normal human tissues for CHD6 Gene

Protein differential expression in normal tissues from HIPED for CHD6 Gene

This gene is overexpressed in Plasma (24.8), Monocytes (21.1), Peripheral blood mononuclear cells (11.8), and Lung (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHD6 Gene



SOURCE GeneReport for Unigene cluster for CHD6 Gene Hs.740645

mRNA Expression by UniProt/SwissProt for CHD6 Gene

Q8TD26-CHD6_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with CHD6: view

Protein tissue co-expression partners for CHD6 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CHD6 Gene

Orthologs for CHD6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHD6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHD6 35
  • 85.96 (n)
  • 88.83 (a)
CHD6 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHD6 35
  • 89.76 (n)
  • 92.03 (a)
CHD6 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chd6 35
  • 87.48 (n)
  • 88.84 (a)
Chd6 16
Chd6 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHD6 35
  • 99.74 (n)
  • 99.82 (a)
CHD6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chd6 35
  • 87.04 (n)
  • 88.48 (a)
oppossum
(Monodelphis domestica)
Mammalia CHD6 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHD6 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHD6 35
  • 72.48 (n)
  • 75.3 (a)
CHD6 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHD6 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chd6 35
  • 70.64 (n)
  • 73.81 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16257 35
zebrafish
(Danio rerio)
Actinopterygii chd6 35
  • 66.1 (n)
  • 68.84 (a)
CHD6 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kis 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chd-7 36
  • 25 (a)
OneToMany
Species with no ortholog for CHD6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CHD6 Gene

ENSEMBL:
Gene Tree for CHD6 (if available)
TreeFam:
Gene Tree for CHD6 (if available)

Paralogs for CHD6 Gene

Paralogs for CHD6 Gene

(4) SIMAP similar genes for CHD6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CHD6: view

Variants for CHD6 Gene

Sequence variations from dbSNP and Humsavar for CHD6 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs3817893 - 41,416,591(+) ACCTT(C/G)TGGAT reference, missense
rs4474937 - 41,483,437(+) GCTGC(A/C)TGAAT reference, missense
rs1156 -- 41,403,389(-) AAGAA(A/C)CTGCC utr-variant-3-prime
rs761023 -- 41,452,975(-) AAGAG(A/G)ACTTT intron-variant
rs761024 -- 41,427,997(-) TGGCA(A/C)GAAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHD6 Gene

Variant ID Type Subtype PubMed ID
nsv833984 CNV Loss 17160897
nsv3381 CNV Loss 18451855
nsv510786 CNV Loss 20534489
esv2460578 CNV Deletion 19546169
nsv3382 CNV Insertion 18451855
nsv178957 CNV Loss 16902084
esv268315 CNV Insertion 20981092

Variation tolerance for CHD6 Gene

Residual Variation Intolerance Score: 1.25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.93; 74.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHD6 Gene

HapMap Linkage Disequilibrium report
CHD6
Human Gene Mutation Database (HGMD)
CHD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHD6 Gene

Disorders for CHD6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CHD6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
developmental coordination disorder
  • motor skills disorders
pitt-hopkins syndrome
  • intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
- elite association - COSMIC cancer census association via MalaCards
Search CHD6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHD6_HUMAN
  • Note=A chromosomal aberration disrupting CHD6 has been found in a patient with mild to moderate mental retardation and minor facial anomalies. Translocation t(18;20)(q21.1;q11.2) with TCF4 producing a CHD6-TCF4 fusion transcript (PubMed:18627065). {ECO:0000269 PubMed:18627065}.

Relevant External Links for CHD6

Genetic Association Database (GAD)
CHD6
Human Genome Epidemiology (HuGE) Navigator
CHD6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHD6
genes like me logo Genes that share disorders with CHD6: view

No data available for Genatlas for CHD6 Gene

Publications for CHD6 Gene

  1. CHD5 defines a new subfamily of chromodomain-SWI2/SNF2-like helicases. (PMID: 11889561) Schuster E.F. … Stoeger R.J. (Mamm. Genome 2002) 2 3 4 67
  2. CHD6 regulates the topological arrangement of the CFTR locus. (PMID: 25631877) Sancho A. … Walsh M.J. (Hum. Mol. Genet. 2015) 3
  3. CHD6, a cellular repressor of influenza virus replication, is degraded in human alveolar epithelial cells and mice lungs during infection. (PMID: 23408615) Alfonso R. … Nieto A. (J. Virol. 2013) 3
  4. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PMID: 23667531) Cox J.L. … Rizzino A. (PLoS ONE 2013) 3
  5. Multiple loci influencing hippocampal degeneration identified by genome scan. (PMID: 22745009) Melville S.A. … Farrer L.A. (Ann. Neurol. 2012) 3

Products for CHD6 Gene

Sources for CHD6 Gene

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