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Chd7
Gene Detail
 Symbol
Name
ID
Chd7
chromodomain helicase DNA binding protein 7
MGI:2444748
Synonyms A730019I05Rik, Cycn, Cyn, Dz, Edy, Flo, GENA 47, Gena 52, GENA 60, Lda, Mt, Obt, Todo, WBE1, Whi
Feature Type protein coding gene
Genetic Map
Chromosome 4
3.68 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr4:8690406-8867659 bp, + strand
From VEGA annotation of GRCm38

  177254 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:19067  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Chd7

Human
homologs
Human Homolog CHD7, chromodomain helicase DNA binding protein 7
NCBI Gene ID 55636
neXtProt AC  NX_Q9P2D1
Human Synonyms  CRG, HH5, IS3, KAL5
Human Chr (Location)  8q12.2; chr8:60678762-60868028 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human CHD7
Mutations,
alleles, and
phenotypes
All mutations/alleles(46) : Chemically induced (ENU)(10) Gene trapped(29) Spontaneous(1) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Heterozygotes for mutations of this gene exhibit a variety of combinations of hyperactivity, circling, head-bobbing, semicircular canal defects, hearing loss, reduced size, and tail-kink.
 
Human Diseases Modeled Using Mouse Chd7 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(6)
Interactions
Chd7 interacts with 380 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (53 annotations)
Process adult heart development, adult walking behavior, ...
Component nucleus
Function ATP binding, chromatin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (19 records)
Data Summary: Results (141)    Tissues (45)    Images (36)
Theiler Stages: 11, 13, 17, 19, 22, 23, 28
Assay TypeResults
RNA in situ 139
RT-PCR 2
cDNA source data(12)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(13) cDNA(12) Primer pair(1)
Microarray probesets(35)
Other database
links
VEGA Gene ModelOTTMUSG00000004417 (Evidence)
Ensembl Gene ModelENSMUSG00000041235 (Evidence)
Entrez Gene320790 (Evidence)
DFCITC1585262, TC1601139, TC1631410, TC1645977, TC1711005
DoTSDT.101137757, DT.101206097, DT.103571585, DT.110790224, DT.527479, DT.60102312, DT.91403896, DT.99850267
NIA Mouse Gene IndexU004053
EC3.6.4.12
Consensus CDS ProjectCCDS38689.1
International Mouse Knockout Project StatusChd7
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000004417 VEGA Gene Model | MGI Sequence Detail 177254 C57BL/6J ±  kb
transcript OTTMUST00000010005 VEGA | MGI Sequence Detail 10216 Not Applicable 
polypeptide OTTMUSP00000004792 VEGA | MGI Sequence Detail 2986 Not Applicable 

For the selected sequences
All sequences(66) RefSeq(10) UniProt(3)
Polymorphisms SNPs within 2kb(975 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006576 BRK domain
InterPro IPR023780 Chromo domain
InterPro IPR016197 Chromo domain-like
InterPro IPR000953 Chromo domain/shadow
InterPro IPR001650 Helicase, C-terminal
InterPro IPR014001 Helicase, superfamily 1/2, ATP-binding domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR001005 SANT/Myb domain
InterPro IPR000330 SNF2-related
Protein Ontology PR:000005413 chromodomain-helicase-DNA-binding protein 7
References (Earliest) J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):737-50
(Latest) J:207089 Liu Y, et al., CHD7 interacts with BMP R-SMADs to epigenetically regulate cardiogenesis in mice. Hum Mol Genet. 2014 Apr 15;23(8):2145-56
All references(62)
Disease annotation references (4)
Other
accession IDs
MGI:1861982, MGI:1861985, MGI:1861987, MGI:1861988, MGI:1862038, MGI:1890591, MGI:1890592, MGI:2662565, MGI:2662566

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory