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Aliases for CHD7 Gene

Aliases for CHD7 Gene

  • Chromodomain Helicase DNA Binding Protein 7 2 3 5
  • ATP-Dependent Helicase CHD7 3 4
  • CHARGE Association 2 3
  • Chromodomain Helicase DNA Binding Protein 7 Isoform CRA_e 3
  • EC 3.6.4.12 4
  • KIAA1416 4
  • EC 3.6.1 63
  • CHD-7 4
  • KAL5 3
  • HH5 3
  • IS3 3
  • CRG 3

External Ids for CHD7 Gene

Previous HGNC Symbols for CHD7 Gene

  • CRG

Previous GeneCards Identifiers for CHD7 Gene

  • GC00U900988
  • GC08P061642
  • GC08P061753
  • GC08P057078

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

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 hypogonadotropic hypogonadism 5 with or without anosmia. Among its related pathways are Noncanonical Wnt signaling pathway. GO annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is CHD3.

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

Regulatory Elements for CHD7 Gene

Promoters for CHD7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHD7 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHD7 Gene

Chromosome:
8
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

Genes around CHD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 934
  • Modification sites at PhosphoSitePlus

Other Protein References for CHD7 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CHD7 (CHD-7)

Domains & Families for CHD7 Gene

Gene Families for CHD7 Gene

Suggested Antigen Peptide Sequences for CHD7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2D1

UniProtKB/Swiss-Prot:

CHD7_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.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with CHD7: view

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:0016817 hydrolase activity, acting on acid anhydrides IEA --
genes like me logo Genes that share ontologies with CHD7: view
genes like me logo Genes that share phenotypes with CHD7: view

Human Phenotype Ontology for CHD7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHD7 Gene

MGI Knock Outs for CHD7:

Animal Model Products

  • Taconic Biosciences Mouse Models for CHD7

No data available for Transcription Factor Targets 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
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for CHD7 Gene

Pathways & Interactions for CHD7 Gene

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

Pathways by source 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 IEA --
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

No data available for SIGNOR curated interactions for CHD7 Gene

Drugs & Compounds for CHD7 Gene

(1) Drugs for CHD7 Gene - From: HMDB

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

(3) Additional Compounds for CHD7 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 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 (x6.9) and Brain - Cerebellum (x6.0).

Protein differential expression in normal tissues from HIPED for CHD7 Gene

This gene is overexpressed in Liver (42.2), NK cells (7.2), and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CHD7: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for CHD7 Gene

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 36
  • 100 (a)
OneToOne
CHD7 35
  • 99.79 (n)
  • 99.87 (a)
cow
(Bos Taurus)
Mammalia CHD7 36
  • 93 (a)
OneToOne
CHD7 35
  • 86.21 (n)
  • 92.53 (a)
dog
(Canis familiaris)
Mammalia CHD7 35
  • 92.15 (n)
  • 95.89 (a)
CHD7 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chd7 36
  • 95 (a)
OneToOne
Chd7 16
Chd7 35
  • 89.89 (n)
  • 95.08 (a)
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 36
  • 63 (a)
OneToOne
chd7 35
  • 70.77 (n)
  • 76.5 (a)
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

(4) 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
VAR_021059 CHARGE syndrome (CHARGES)
VAR_021060 CHARGE syndrome (CHARGES)
VAR_033245 CHARGE syndrome (CHARGES)
VAR_033246 CHARGE syndrome (CHARGES)
VAR_033247 CHARGE syndrome (CHARGES)

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

Variation tolerance for CHD7 Gene

Residual Variation Intolerance Score: 1.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.77; 66.64% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(34) MalaCards diseases for CHD7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charge syndrome
  • charge association
hypogonadotropic hypogonadism 5 with or without anosmia
  • kallmann syndrome 5
kallmann syndrome
  • familial hypogonadism with anosmia
normosmic congenital hypogonadotropic hypogonadism
  • gonadotropic deficiency
omenn syndrome
  • reticuloendotheliosis familial with eosinophilia
- elite association - COSMIC cancer census association via MalaCards
Search CHD7 in MalaCards View complete list of genes associated with diseases

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:16763960, 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:21158681, ECO:0000269 PubMed:25077900}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHD7

Genetic Association Database (GAD)
CHD7
Human Genome Epidemiology (HuGE) Navigator
CHD7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHD7
genes like me logo Genes that share disorders with CHD7: view

No data available for Genatlas for CHD7 Gene

Publications for CHD7 Gene

  1. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. (PMID: 19021638) Jongmans M.C. … Hoefsloot L.H. (Clin. Genet. 2009) 3 4 48 67
  2. CHD7 cooperates with PBAF to control multipotent neural crest formation. (PMID: 20130577) Bajpai R. … Wysocka J. (Nature 2010) 3 23
  3. 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
  4. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. (PMID: 18445044) Wincent J. … Schoumans J. (Clin. Genet. 2008) 3 23
  5. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (PMID: 18834967) Kim H.-G. … Layman L.C. (Am. J. Hum. Genet. 2008) 2 3

Products for CHD7 Gene

Sources for CHD7 Gene

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