Mouse Gene Chd7 (ENSMUST00000051558.10) from GENCODE VM33
  Description: Mus musculus chromodomain helicase DNA binding protein 7 (Chd7), transcript variant 2, mRNA. (from RefSeq NM_001355382)
RefSeq Summary (NM_001277149): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENSMUST00000051558.10
Gencode Gene: ENSMUSG00000041235.13
Transcript (Including UTRs)
   Position: mm39 chr4:8,691,365-8,867,659 Size: 176,295 Total Exon Count: 38 Strand: +
Coding Region
   Position: mm39 chr4:8,751,505-8,866,655 Size: 115,151 Coding Exon Count: 37 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-15 19:06:27

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:8,691,365-8,867,659)mRNA (may differ from genome)Protein (2986 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
PubMedSOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CHD7_MOUSE
DESCRIPTION: RecName: Full=Chromodomain-helicase-DNA-binding protein 7; Short=CHD-7; EC=3.6.4.12; AltName: Full=ATP-dependent helicase CHD7;
FUNCTION: Probable transcription regulator.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: May interact with CTCF. Interacts with CHD8 (By similarity).
INTERACTION: Q60I23:Sox2; NbExp=6; IntAct=EBI-6122905, EBI-6120118;
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Expressed in the outflow tract of the heart, optic vesicle, facio-acoustic preganglion complex, brain, olfactory pit, and mandibular component of the first branchial arch.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity).
SIMILARITY: Belongs to the SNF2/RAD54 helicase family.
SIMILARITY: Contains 2 chromo domains.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SEQUENCE CAUTION: Sequence=BAE42701.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAE42701.1; Type=Frameshift; Positions=17;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.90251-0.322 Picture PostScript Text
3' UTR -237.601004-0.237 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006576 - BRK_domain
IPR023780 - Chromo_domain
IPR000953 - Chromo_domain/shadow
IPR016197 - Chromodomain-like
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C
IPR001005 - SANT/Myb
IPR000330 - SNF2_N

Pfam Domains:
PF07533 - BRK domain
PF00385 - Chromo (CHRromatin Organisation MOdifier) domain
PF00271 - Helicase conserved C-terminal domain
PF00176 - SNF2 family N-terminal domain

ModBase Predicted Comparative 3D Structure on A2AJK6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
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Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0003677 DNA 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
GO:1990841 promoter-specific chromatin binding

Biological Process:
GO:0001501 skeletal system development
GO:0001568 blood vessel development
GO:0001701 in utero embryonic development
GO:0001974 blood vessel remodeling
GO:0003007 heart morphogenesis
GO:0003222 ventricular trabecula myocardium morphogenesis
GO:0003226 right ventricular compact myocardium morphogenesis
GO:0006325 chromatin organization
GO:0006338 chromatin remodeling
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:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
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:0035904 aorta development
GO:0035909 aorta morphogenesis
GO:0036302 atrioventricular canal development
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:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048752 semicircular canal morphogenesis
GO:0048771 tissue remodeling
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:0060384 innervation
GO:0060411 cardiac septum morphogenesis
GO:0060429 epithelium development

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus


-  Descriptions from all associated GenBank mRNAs
  AK171857 - Mus musculus activated spleen cDNA, RIKEN full-length enriched library, clone:F830015C19 product:hypothetical Proline-rich region profile/Glutamine-rich region profile containing protein, full insert sequence.
AK035953 - Mus musculus 16 days neonate cerebellum cDNA, RIKEN full-length enriched library, clone:9630020J18 product:unclassifiable, full insert sequence.
AK171051 - Mus musculus NOD-derived CD11c +ve dendritic cells cDNA, RIKEN full-length enriched library, clone:F630221D22 product:hypothetical Proline-rich region profile/Glutamine-rich region profile containing protein, full insert sequence.
AK042727 - Mus musculus 7 days neonate cerebellum cDNA, RIKEN full-length enriched library, clone:A730019I05 product:hypothetical protein, full insert sequence.
AK172025 - Mus musculus activated spleen cDNA, RIKEN full-length enriched library, clone:F830031E22 product:hypothetical Proline-rich region profile/Glutamine-rich region profile containing protein, full insert sequence.
AK211237 - Mus musculus cDNA, clone:Y2G0121B13, strand:minus, reference:ENSEMBL:Mouse-Transcript-ENST:ENSMUST00000051558, based on BLAT search.
BC034239 - Mus musculus chromodomain helicase DNA binding protein 7, mRNA (cDNA clone IMAGE:4007312), partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: A2AJK6, CHD7_MOUSE, ENSMUST00000051558.1, ENSMUST00000051558.2, ENSMUST00000051558.3, ENSMUST00000051558.4, ENSMUST00000051558.5, ENSMUST00000051558.6, ENSMUST00000051558.7, ENSMUST00000051558.8, ENSMUST00000051558.9, NM_001355382, Q3TA86, Q3TAG7, Q3TBU4, Q8C986, Q8K244, uc008ryb.1, uc008ryb.2, uc008ryb.3
UCSC ID: ENSMUST00000051558.10
RefSeq Accession: NM_001277149
Protein: A2AJK6 (aka CHD7_MOUSE)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.