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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

HCOP human homology predictions: CHD7
Gene Tree: Chd7

Human
homologs
CHD7, chromodomain helicase DNA binding protein 7
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 55636
neXtProt AC: NX_Q9P2D1

Human Synonyms: CRG, HH5, IS3, KAL5

Human Chr (Location): 8q12.2; chr8:60678762-60868028 (+)  GRCh38.p2

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 , CvDC )
 
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 in Mice Using Chd7 (1)    Mutations 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: (54 annotations)
Process adult heart development, adult walking behavior, ...
Component nucleoplasm, nucleus
Function ATP binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (20 records)
Data Summary: Results (141)    Tissues (45)    Images (36)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 139
RT-PCR 2
cDNA source data(12)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA CHD7 ; Xenbase chd7 ; ZFIN chd7    NEW 
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 Phenotyping Consortium Status Chd7
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 IPR000953 Chromo/chromo shadow domain
InterPro IPR023780 Chromo domain
InterPro IPR016197 Chromo domain-like
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, N-terminal domain
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:222928 Cariboni A, et al., Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. J Clin Invest. 2015 Jun;125(6):2413-28
All references(64)
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
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory