Version 5.4
Homo sapiens Gene: CHD7
Summary
InnateDB Gene IDBG-22967.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHD7
Gene Name chromodomain helicase DNA binding protein 7
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000171316
Encoded Proteins
IDBP-371276
chromodomain helicase DNA binding protein 7
IDBP-586582
chromodomain helicase DNA binding protein 7
IDBP-594593
chromodomain helicase DNA binding protein 7
IDBP-593404
chromodomain helicase DNA binding protein 7
IDBP-589385
chromodomain helicase DNA binding protein 7
IDBP-600821
chromodomain helicase DNA binding protein 7
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:60678778-60868028
Strand Forward strand
Band q12.2
Transcripts
ENST00000423902 ENSP00000392028
ENST00000526846 ENSP00000436492
ENST00000524602 ENSP00000437061
ENST00000525508 ENSP00000436027
ENST00000527825 ENSP00000432627
ENST00000527900 ENSP00000433336
ENST00000527921
ENST00000529472
ENST00000531695
ENST00000532149
ENST00000528280
ENST00000618450
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Experimentally validated
Total 36 [view]
Protein-Protein 36 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0016817 hydrolase activity, acting on acid anhydrides
Biological Process
GO:0001501 skeletal system development
GO:0001568 blood vessel development
GO:0001701 in utero embryonic development
GO:0003007 heart morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006364 rRNA processing
GO:0007417 central nervous system development
GO:0007512 adult heart development
GO:0007605 sensory perception of sound
GO:0007626 locomotory behavior
GO:0007628 adult walking behavior
GO:0008015 blood circulation
GO:0016568 chromatin modification
GO:0021545 cranial nerve development
GO:0021553 olfactory nerve development
GO:0021772 olfactory bulb development
GO:0030217 T cell differentiation
GO:0030540 female genitalia development
GO:0035116 embryonic hindlimb morphogenesis
GO:0040018 positive regulation of multicellular organism growth
GO:0042048 olfactory behavior
GO:0042471 ear morphogenesis
GO:0042472 inner ear morphogenesis
GO:0043010 camera-type eye development
GO:0043584 nose development
GO:0048752 semicircular canal morphogenesis
GO:0048806 genitalia development
GO:0048844 artery morphogenesis
GO:0050767 regulation of neurogenesis
GO:0050890 cognition
GO:0060021 palate development
GO:0060041 retina development in camera-type eye
GO:0060123 regulation of growth hormone secretion
GO:0060173 limb development
GO:0060324 face development
GO:0060429 epithelium development
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000041235
View Gene Order
ENSBTAG00000021841
Not yet available
Pathways
NETPATH
NetPath_8
Wnt pathway
REACTOME
KEGG
INOH
PID NCI
wnt_noncanonical_pathway
Noncanonical Wnt signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.20395 Hs.609549 Hs.625410 Hs.681361 Hs.713887 Hs.733236
RefSeq NM_017780 XM_005251266 XM_005251267 XM_006716459 XM_006716460
HUGO
OMIM
CCDS CCDS47865
HPRD 10595
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca