Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CHD7 Gene

Aliases for CHD7 Gene

  • Chromodomain Helicase DNA Binding Protein 7 2 3
  • ATP-Dependent Helicase CHD7 3 4
  • CHARGE Association 2 3
  • HH5 3 6
  • IS3 3 6
  • Chromodomain Helicase DNA Binding Protein 7 Isoform CRA_e 3
  • Chromodomain-Helicase-DNA-Binding Protein 7 3
  • EC 3.6.4.12 4
  • KIAA1416 4
  • EC 3.6.1 63
  • CHD-7 4
  • KAL5 3
  • CRG 3

External Ids for CHD7 Gene

Previous Symbols for CHD7 Gene

  • CRG

Summaries for CHD7 Gene

Entrez Gene Summary for CHD7 Gene

  • This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for CHD7 Gene

CHD7 (Chromodomain Helicase DNA Binding Protein 7) is a Protein Coding gene. Diseases associated with CHD7 include charge syndrome and scoliosis, idiopathic 3. Among its related pathways are Chromatin Regulation / Acetylation and Noncanonical Wnt signaling pathway. GO annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is CHD1.

UniProtKB/Swiss-Prot for CHD7 Gene

  • Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.

Gene Wiki entry for CHD7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHD7 Gene

Genomics for CHD7 Gene

Genomic Location for CHD7 Gene

Start:
60,678,762 bp from pter
End:
60,868,028 bp from pter
Size:
189,267 bases
Orientation:
Plus strand

Genomic View for CHD7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHD7 Gene

Regulatory Elements for CHD7 Gene

Proteins for CHD7 Gene

  • Protein details for CHD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2D1-CHD7_HUMAN
    Recommended name:
    Chromodomain-helicase-DNA-binding protein 7
    Protein Accession:
    Q9P2D1
    Secondary Accessions:
    • D0VBA5
    • E9PNZ2
    • Q05DI5
    • Q2TAN4
    • Q66K35
    • Q7Z6C0
    • Q7Z7Q2
    • Q9NXA0
    • Q9NXA3

    Protein attributes for CHD7 Gene

    Size:
    2997 amino acids
    Molecular mass:
    335927 Da
    Quaternary structure:
    • May interact with CTCF. Interacts with CHD8.
    SequenceCaution:
    • Sequence=AAH14681.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH14681.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH53890.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH68000.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH80627.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH80627.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI10819.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91113.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91116.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHD7 Gene

    Alternative splice isoforms for CHD7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHD7 Gene

Proteomics data for CHD7 Gene at MOPED

Post-translational modifications for CHD7 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys934

Other Protein References for CHD7 Gene

Domains for CHD7 Gene

Suggested Antigen Peptide Sequences for CHD7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2D1

UniProtKB/Swiss-Prot:

CHD7_HUMAN
Domain:
  • Contains 2 chromo domains.:
    • Q9P2D1
  • Contains 1 helicase ATP-binding domain.:
    • Q9P2D1
  • Contains 1 helicase C-terminal domain.:
    • Q9P2D1
Family:
  • Belongs to the SNF2/RAD54 helicase family.:
    • Q9P2D1
genes like me logo Genes that share domains with CHD7: view

No data available for Gene Families for CHD7 Gene

Function for CHD7 Gene

Molecular function for CHD7 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot Function: Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.

Enzyme Numbers (IUBMB) for CHD7 Gene

Gene Ontology (GO) - Molecular Function for CHD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding TAS 17299439
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 20453063
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CHD7: view
genes like me logo Genes that share phenotypes with CHD7: view

Animal Models for CHD7 Gene

MGI Knock Outs for CHD7:

No data available for Transcription Factor Targeting and HOMER Transcription for CHD7 Gene

Localization for CHD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHD7 Gene

Isoform 1: Nucleus.
Isoform 3: Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHD7 Gene COMPARTMENTS Subcellular localization image for CHD7 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for CHD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 17299439
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with CHD7: view

Pathways for CHD7 Gene

genes like me logo Genes that share pathways with CHD7: view

Pathways by source for CHD7 Gene

1 Cell Signaling Technology pathway for CHD7 Gene
1 BioSystems pathway for CHD7 Gene

Gene Ontology (GO) - Biological Process for CHD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 16155193
GO:0001568 blood vessel development --
GO:0001701 in utero embryonic development IMP 15300250
GO:0003007 heart morphogenesis IMP 15300250
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with CHD7: view

Transcripts for CHD7 Gene

Unigene Clusters for CHD7 Gene

Chromodomain helicase DNA binding protein 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHD7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2:
SP3:
SP4:

ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35
SP1: -
SP2:
SP3: -
SP4:

Relevant External Links for CHD7 Gene

GeneLoc Exon Structure for
CHD7
ECgene alternative splicing isoforms for
CHD7

Expression for CHD7 Gene

mRNA expression in normal human tissues for CHD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHD7 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (6.9) and Brain - Cerebellum (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHD7 Gene

SOURCE GeneReport for Unigene cluster for CHD7 Gene Hs.20395

mRNA Expression by UniProt/SwissProt for CHD7 Gene

Q9P2D1-CHD7_HUMAN
Tissue specificity: Widely expressed in fetal and adult tissues.
genes like me logo Genes that share expressions with CHD7: view

Orthologs for CHD7 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHD7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHD7 35
  • 99.79 (n)
  • 99.87 (a)
CHD7 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHD7 35
  • 86.21 (n)
  • 92.53 (a)
CHD7 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHD7 35
  • 92.15 (n)
  • 95.89 (a)
CHD7 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chd7 35
  • 89.89 (n)
  • 95.08 (a)
Chd7 16
Chd7 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHD7 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Chd7 35
  • 89.22 (n)
  • 94.77 (a)
chicken
(Gallus gallus)
Aves CHD7 35
  • 85.21 (n)
  • 92.44 (a)
CHD7 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHD7 36
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16730 35
tropical clawed frog
(Silurana tropicalis)
Amphibia chd7 35
  • 78.1 (n)
  • 86.6 (a)
Str.10097 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2609 35
zebrafish
(Danio rerio)
Actinopterygii chd7 35
  • 70.77 (n)
  • 76.5 (a)
chd7 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kis 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chd-7 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToMany
CSA.5026 36
  • 42 (a)
OneToMany
Species with no ortholog for CHD7:
  • 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)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHD7 Gene

ENSEMBL:
Gene Tree for CHD7 (if available)
TreeFam:
Gene Tree for CHD7 (if available)

Paralogs for CHD7 Gene

Paralogs for CHD7 Gene

Selected SIMAP similar genes for CHD7 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CHD7: view

Variants for CHD7 Gene

Sequence variations from dbSNP and Humsavar for CHD7 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs674489 -- 60,676,858(+) TAGAT(A/G)TCATT upstream-variant-2KB
rs730084 -- 60,738,839(+) ATACC(A/G)TATAA intron-variant
rs730085 -- 60,739,055(+) ATCTG(A/G)CTCTG intron-variant
rs876957 -- 60,751,655(+) GCCTT(A/G)TAAAA intron-variant
rs900502 -- 60,687,580(-) TACTT(A/C)AGGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHD7 Gene

Variant ID Type Subtype PubMed ID
nsv831335 CNV Loss 17160897
nsv890945 CNV Gain 21882294
nsv824657 CNV Loss 20364138
nsv824658 CNV Gain 20364138
nsv824659 CNV Gain 20364138
nsv526196 CNV Gain 19592680
esv2462449 CNV Deletion 19546169
nsv6219 CNV Loss 18451855
esv1009733 CNV Insertion 20482838
nsv397201 CNV Insertion 16902084
nsv890946 CNV Gain 21882294
esv259681 OTHER Complex 20981092

Relevant External Links for CHD7 Gene

HapMap Linkage Disequilibrium report
CHD7
Human Gene Mutation Database (HGMD)
CHD7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHD7 Gene

Disorders for CHD7 Gene

(3) OMIM Diseases for CHD7 Gene (608892)

UniProtKB/Swiss-Prot

CHD7_HUMAN
  • CHARGE syndrome (CHARGES) [MIM:214800]: Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. {ECO:0000269 PubMed:15300250, ECO:0000269 PubMed:16400610, ECO:0000269 PubMed:18074359, ECO:0000269 PubMed:18445044, ECO:0000269 PubMed:19021638, ECO:0000269 PubMed:21158681, ECO:0000269 PubMed:21554267, ECO:0000269 PubMed:21931733, ECO:0000269 PubMed:22461308, ECO:0000269 PubMed:22462537}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees. {ECO:0000269 PubMed:17436250}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269 PubMed:18834967, ECO:0000269 PubMed:25077900}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for CHD7 Gene

Disease -log(P) Hits PubMed IDs
coloboma 93.8 4
atresia 83.8 4
heart defects congenital 81.4 5
growth retardation 67.7 1
hypoplasia 51.2 1

Relevant External Links for CHD7

GeneTests
CHD7
GeneReviews
CHD7
Genetic Association Database (GAD)
CHD7
Human Genome Epidemiology (HuGE) Navigator
CHD7
genes like me logo Genes that share disorders with CHD7: view

Publications for CHD7 Gene

  1. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. (PMID: 18445044) Wincent J. … Schoumans J. (Clin. Genet. 2008) 3 4 23
  2. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. (PMID: 20186815) Zentner G.E. … Scacheri P.C. (Am. J. Med. Genet. A 2010) 3 23 48
  3. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (PMID: 15300250) Vissers L.E.L.M. … Geurts van Kessel A. (Nat. Genet. 2004) 2 3 4
  4. CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. (PMID: 17436250) Gao X. … Wise C. (Am. J. Hum. Genet. 2007) 3 4 48
  5. CHD7 gene and non-syndromic cleft lip and palate. (PMID: 16763960) Felix T.M. … Murray J.C. (Am. J. Med. Genet. A 2006) 3 4 48

Products for CHD7 Gene

Sources for CHD7 Gene

Back to Top

Content