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Aliases for CHD6 Gene

Aliases for CHD6 Gene

  • Chromodomain Helicase DNA Binding Protein 6 2 3
  • 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
  • Chromodomain-Helicase-DNA-Binding Protein 6 3
  • EC 3.6.4.12 4
  • KIAA1335 4
  • EC 3.6.1 64

External Ids for CHD6 Gene

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 influenza and pitt-hopkins syndrome. GO annotations related to this gene include chromatin binding and ATP-dependent helicase activity. An important paralog of this gene is CHD1.

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

Genomic Location for CHD6 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHD6 Gene

Regulatory Elements 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 for CHD6 Gene

UniProtKB/Swiss-Prot:

CHD6_HUMAN
Domain:
  • Contains 2 chromo domains.:
    • Q8TD26
  • Contains 1 helicase ATP-binding domain.:
    • Q8TD26
  • Contains 1 helicase C-terminal domain.:
    • Q8TD26
  • Contains 1 Myb-like domain.:
    • Q8TD26
Family:
  • Belongs to the SNF2/RAD54 helicase family.:
    • Q8TD26
genes like me logo Genes that share domains with CHD6: view

No data available for Gene Families for CHD6 Gene

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:0001221 transcription cofactor binding IPI 16314513
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CHD6: view

Phenotypes for CHD6 Gene

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

Animal Models for CHD6 Gene

MGI Knock Outs for CHD6:

miRNA for CHD6 Gene

miRTarBase miRNAs that target CHD6

No data available for Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for CHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA 17027977
GO:0005665 colocalizes_with DNA-directed RNA polymerase II, core complex IDA 17027977
genes like me logo Genes that share ontologies with CHD6: view

Pathways for CHD6 Gene

SuperPathways for CHD6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CHD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006351 transcription, DNA-templated IEA --
GO:0016568 chromatin modification IEA --
GO:0036091 positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress IMP 16314513
genes like me logo Genes that share ontologies with CHD6: view

No data available for Pathways by source for CHD6 Gene

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

Integrated Proteomics: protein expression 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 expressions with CHD6: view

Orthologs for CHD6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHD6 36
  • 99.74 (n)
  • 99.82 (a)
CHD6 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHD6 36
  • 85.96 (n)
  • 88.83 (a)
CHD6 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHD6 36
  • 89.76 (n)
  • 92.03 (a)
CHD6 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chd6 36
  • 87.48 (n)
  • 88.84 (a)
Chd6 16
Chd6 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHD6 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHD6 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chd6 36
  • 87.04 (n)
  • 88.48 (a)
chicken
(Gallus gallus)
Aves CHD6 36
  • 72.48 (n)
  • 75.3 (a)
CHD6 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHD6 37
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16257 36
tropical clawed frog
(Silurana tropicalis)
Amphibia chd6 36
  • 70.64 (n)
  • 73.81 (a)
zebrafish
(Danio rerio)
Actinopterygii chd6 36
  • 66.1 (n)
  • 68.84 (a)
CHD6 37
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kis 37
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chd-7 37
  • 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

Selected 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 MAF
rs1156 -- 41,403,389(-) AAGAA(A/C)CTGCC utr-variant-3-prime
rs720697 -- 41,486,249(+) ATTTA(G/T)AGTTT intron-variant
rs742431 -- 41,496,819(+) AGGCT(A/C)TATTA intron-variant
rs742432 -- 41,416,978(-) AGTAC(C/G)ATGGC intron-variant
rs742433 -- 41,416,933(-) TTAAG(C/G)CTTAT 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

Relevant External Links for CHD6 Gene

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

Disorders for CHD6 Gene

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}.

(1) University of Copenhagen DISEASES for CHD6 Gene

Relevant External Links for CHD6

Genetic Association Database (GAD)
CHD6
Human Genome Epidemiology (HuGE) Navigator
CHD6
genes like me logo Genes that share disorders with CHD6: view

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
  2. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. (PMID: 18627065) Kalscheuer V.M. … Ropers H.H. (Am. J. Med. Genet. A 2008) 4 23
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 3 4

Products for CHD6 Gene

Sources for CHD6 Gene

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