Chd7 - chromodomain helicase DNA binding protein 7 Gene
Also Known as Dz; Mt; Cyn; Edy; Flo; Lda; Obt; Whi; Cycn; Todo; WBE1; metis; GENA 47; GENA 60; Gena 52; A730019I05Rik
Species: Mus musculus
Summary
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]
Chd7 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001277149.1 | NP_001264078.1 | chromodomain-helicase-DNA-binding protein 7 isoform 1 |
| NM_001355382.1 | NP_001342311.1 | chromodomain-helicase-DNA-binding protein 7 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
23319608 | MGI |
| enables promoter-specific chromatin binding |
IDA
IDA: Inferred from direct assay
|
26102480 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21532573 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
26102480 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
chromodomain-helicase-DNA-binding protein 7 |
|