CHD7 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CHD7 |
| Official Name | chromodomain helicase DNA binding protein 7 [Source:HGNC Symbol;Acc:HGNC:20626] |
| Ensembl ID | ENSG00000171316 |
| 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 | Human, Homo sapiens |
| 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 human 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
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 human 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