Chd7 Gene Summary [Mouse]
This gene encodes a protein containing two chromodomains and an ATP-binding helicase domain that functions as a regulator of transcription. Mutations in this gene result in an array of development defects, including inner ear problems. Mice defective for this gene exhibit many of the clinical features of the CHARGE syndrome caused by mutations in the homologous gene in human. [provided by RefSeq, Sep 2015]
Details
| Type | Retained Intron |
| Official Symbol | Chd7 |
| Official Name | chromodomain helicase DNA binding protein 7 [Source:MGI Symbol;Acc:MGI:2444748] |
| Ensembl ID | ENSMUSG00000041235 |
| Bio databases IDs | |
| Aliases | chromodomain helicase DNA binding protein 7 |
| Synonyms | A730019I05RIK, Chromodomain helicase DNA binding protein 7, CRG, Cycn, CYN, DZ, EDY, Flo, GENA 47, Gena 52, GENA 60, HH5, IS3, KAL5, KIAA1416, LDA, metis, Mt, OBT, Todo, WBE1, Whi |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Chd7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Chromatin organization modifier domain
- MAPK-interacting and spindle-stabilising protein-like
- nucleic acid binding
- DEAD/DEAH box helicase
- SNF2-related domain
- helicase superfamily c-terminal domain
- chromatin binding
- enzyme
- protein binding
- CR domain
- sequence-specific DNA binding
- Helicase conserved C-terminal domain
- CHROMO (CHRromatin Organization Modifier) domains and chromo shadow domains
- double-stranded DNA binding
- BRK domain
- Type III restriction enzyme, res subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- Chromo (CHRromatin organization MOdifier) domain
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- CHARGE syndrome
- congenital heart disease
- major depression
- insomnia
- hypogonadotropic hypogonadism 5
- immune thrombocytopenia
- congenital heart disease with extracardiac congenital anomalies
- hereditary disorder
- refractive error
phenotypes
- abnormal behavior
- abnormal locomotor activation
- decreased body weight
- hyperactivity
- increased circulating glucose level
- Rathke's pouch hypoplasia
- abnormal auditory tube morphology
- abnormal brain development
- abnormal cardiac outflow tract development
- abnormal common carotid artery morphology
- abnormal common crus morphology
- abnormal corpus callosum morphology
- abnormal cranial nerve morphology
- abnormal crista ampullaris morphology
- abnormal crista ampullaris neuroepithelium morphology
- abnormal digit development
- abnormal distortion product otoacoustic emission
- abnormal ear development
- abnormal embryonic neuroepithelium morphology
- abnormal epigenetic regulation of gene expression
- abnormal external female genitalia morphology
- abnormal eye morphology
- abnormal fourth pharyngeal arch artery morphology
- abnormal frontal lobe morphology
- abnormal glenoid fossa morphology
- abnormal hindlimb morphology
- abnormal hippocampus morphology
- abnormal incudomalleolar joint morphology
- abnormal incus long process morphology
- abnormal incus morphology
- abnormal incus short process morphology
- abnormal inner ear canal fusion
- abnormal internal nares morphology
- abnormal lateral semicircular canal morphology
- abnormal malleus manubrium morphology
- abnormal malleus morphology
- abnormal maternal nurturing
- abnormal middle ear epithelium morphology
- abnormal middle ear ossicle morphology
- abnormal motor capabilities/coordination/movement
- abnormal motor coordination/ balance
- abnormal nasal pit morphology
- abnormal neocortex morphology
- abnormal neural crest cell migration
- abnormal neuronal precursor cell number
- abnormal neuronal precursor proliferation
- abnormal olfactory lobe morphology
- abnormal optic eminence morphology
- abnormal otic vesicle development
- abnormal outer ear morphology
- abnormal oval window morphology
- abnormal parietal lobe morphology
- abnormal pharyngeal arch artery morphology
- abnormal placing response
- abnormal posterior semicircular canal morphology
- abnormal pulmonary trunk morphology
- abnormal round window morphology
- abnormal secondary palate development
- abnormal semicircular canal morphology
- abnormal sensory neuron innervation pattern
- abnormal sixth pharyngeal arch artery morphology
- abnormal stapes crus morpholgy
- abnormal stapes footplate morphology
- abnormal stapes head morphology
- abnormal stapes morphology
- abnormal stationary movement
- abnormal subclavian artery morphology
- abnormal superior semicircular canal morphology
- abnormal telencephalon development
- abnormal telencephalon morphology
- abnormal trigeminal ganglion morphology
- abnormal vagus nerve morphology
- abnormal vestibular nerve morphology
- abnormal vestibulocochlear ganglion morphology
- absent cochlear microphonics
- absent hippocampus
- absent lateral semicircular canal
- absent olfactory bulb
- absent posterior semicircular canal
- aorta coarctation
- aortic arch coarctation
- atrioventricular cushion hypoplasia
- bidirectional circling
- blepharitis
- circling
- cleft secondary palate
- clitoris hypoplasia
- coloboma
- conjunctivitis
- decreased body length
- decreased body size
- decreased cochlear nerve compound action potential
- decreased embryonic neuroepithelium thickness
- decreased fetal cardiomyocyte proliferation
- decreased lateral semicircular canal size
- decreased lumbar vertebrae number
- decreased palatal rugae number
- decreased posterior semicircular canal size
- decreased startle reflex
- decreased total body fat amount
- delayed embryo turning
- dilated lateral ventricles
- dilated third ventricle
- dry eyes
- ectopic thymus
- edema
- embryonic growth arrest
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality during organogenesis incomplete penetrance
- embryonic lethality complete penetrance
- eyelid edema
- facial asymmetry
- fusion of glossopharyngeal and vagus nerve
- head bobbing
- head shaking
- head tossing
- hemorrhage
- hydrocephaly
- impaired hearing
- impaired righting response
- impaired swimming
- increased cardiomyocyte apoptosis
- increased cochlear inner hair cell number
- increased cochlear outer hair cell number
- increased cranium height
- increased middle ear goblet cell number
- increased or absent threshold for auditory brainstem response
- increased periosteum thickness
- increased susceptibility to otitis media
- interrupted aortic arch
- keratoconjunctivitis sicca
- lethality throughout fetal growth and development incomplete penetrance
- long snout
- narrow eye opening
- otosclerosis
- postnatal growth retardation
- postnatal lethality
- postnatal lethality incomplete penetrance
- premature death
- preweaning lethality incomplete penetrance
- reduced female fertility
- reduced fertility
- reduced male fertility
- small hippocampus
- small olfactory bulb
- small otic vesicle
- small stapes obturator foramen
- small thymus
- thin myocardium
- thymus hypoplasia
- ventricular septal defect
role in cell
- expression in
- phosphorylation in
- quantity
- number
- differentiation
- remodeling
- downregulation in
- upregulation in
- transcription in
- oncogene-induced senescence
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Chd7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chordate embryonic development
- regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
- regulation of growth hormone secretion
- retina development in camera-type eye
- innervation
- transcription from RNA polymerase II promoter
- nose development
- rRNA processing
- epithelium development
- positive regulation of transcription from RNA polymerase II promoter
- face development
- olfactory bulb development
- olfactory nerve development
- positive regulation of multicellular organism growth
- adult heart development
- sensory perception of sound
- right ventricular compact myocardium morphogenesis
- adult walking behavior
- heart morphogenesis
- chromatin remodeling
- skeletal system development
- cognition
- in utero embryonic development
- female genitalia development
- embryonic hindlimb morphogenesis
- genitalia development
- limb development
- cranial nerve development
- blood circulation
- regulation of transcription, DNA-dependent
- cardiac septum morphogenesis
- olfactory behavior
- ventricular trabecula myocardium morphogenesis
- T cell differentiation
- response to bacterium
- aorta morphogenesis
- central nervous system development
- blood vessel remodeling
- semicircular canal morphogenesis
- inner ear morphogenesis
- regulation of gene expression
- regulation of neurogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- DNA binding
- ATP binding
- protein binding
- histone binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- helicase activity
- chromatin binding