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 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		HH5, IS3, KAL5
Human Chr (Location)		8q12.2; chr8:61591324-61780587 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human CHD7

Alleles and phenotypes

All alleles(46) : Targeted(6) Gene trapped(29) Spontaneous(1) Chemically induced(10)
 

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(2)

Gene Ontology (GO) classifications

All GO classifications: (49 annotations)

Process	adult heart development, adult walking behavior, ...
Component	nucleus
Function	ATP binding, chromatin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (17 records)
Data Summary: Results (141)    Tissues (45)    Images (36)
Theiler Stages: 11, 13, 17, 19, 22, 23, 28

Assay Type	Results
RNA in situ	139
RT-PCR	2

cDNA source data(12)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(13) cDNA(12) Primer pair(1)
Microarray probesets(35)

Other database links

VEGA Gene Model	OTTMUSG00000004417 (Evidence)
Ensembl Gene Model	ENSMUSG00000041235 (Evidence)
Entrez Gene	320790 (Evidence)
DFCI	TC1585262, TC1601139, TC1631410, TC1645977, TC1711005
DoTS	DT.101137757, DT.101206097, DT.103571585, DT.110790224, DT.527479, DT.60102312, DT.91403896, DT.99850267
NIA Mouse Gene Index	U004053
EC	3.6.4.12
Consensus CDS Project	CCDS38689.1
International Mouse Knockout Project Status	Chd7

Sequences

Length	Strain/Species
genomic	OTTMUSG00000004417	VEGA Gene Model | MGI Sequence Detail	177254	C57BL/6J
transcript	OTTMUST00000010005	VEGA | MGI Sequence Detail	10216	Not Applicable
polypeptide	OTTMUSP00000004792	VEGA | MGI Sequence Detail	2986	Not Applicable

All sequences(61) RefSeq(5) UniProt(3)

Polymorphisms

SNPs(936 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	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:188806 Hurd EA, et al., Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice. Mech Dev. 2012 Sep;129(9-12):308-23
All references(58)

Other accession IDs

MGI:1861982, MGI:1861985, MGI:1861987, MGI:1861988, MGI:1862038, MGI:1890591, MGI:1890592, MGI:2662565, MGI:2662566