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    Chd2 chromodomain helicase DNA binding protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 244059, updated on 27-Nov-2024

    Summary

    Official Symbol
    Chd2provided by MGI
    Official Full Name
    chromodomain helicase DNA binding protein 2provided by MGI
    Primary source
    MGI:MGI:2448567
    See related
    Ensembl:ENSMUSG00000078671 AllianceGenome:MGI:2448567
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CHD-2; 2810013C04Rik; 2810040A01Rik; 5630401D06Rik
    Summary
    Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and histone binding activity. Involved in gene expression and muscle organ development. Acts upstream of or within DNA damage response and hematopoietic stem cell differentiation. Located in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study CHARGE syndrome. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 94. Orthologous to human CHD2 (chromodomain helicase DNA binding protein 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 9.7), limb E14.5 (RPKM 9.5) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Chd2 in Genome Data Viewer
    Location:
    7 D1; 7 41.85 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (73076400..73191494, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (73426652..73541746, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930429H19 gene Neighboring gene RIKEN cDNA A730056A06 gene Neighboring gene STARR-seq mESC enhancer starr_19176 Neighboring gene repulsive guidance molecule family member A Neighboring gene predicted gene 44758 Neighboring gene STARR-seq mESC enhancer starr_19180 Neighboring gene STARR-seq mESC enhancer starr_19181 Neighboring gene STARR-seq mESC enhancer starr_19183 Neighboring gene STARR-seq mESC enhancer starr_19186 Neighboring gene STARR-seq mESC enhancer starr_19187 Neighboring gene STARR-positive B cell enhancer ABC_E6553 Neighboring gene CRISPRi-validated cis-regulatory element for Chaserr and Chd2 Neighboring gene CHD2 adjacent suppressive regulatory RNA Neighboring gene STARR-seq mESC enhancer starr_19190 Neighboring gene STARR-positive B cell enhancer ABC_E1342 Neighboring gene STARR-positive B cell enhancer ABC_E6554 Neighboring gene STARR-seq mESC enhancer starr_19193 Neighboring gene STARR-seq mESC enhancer starr_19194 Neighboring gene predicted gene, 30149 Neighboring gene STARR-seq mESC enhancer starr_19195 Neighboring gene predicted gene, 39036 Neighboring gene predicted gene, 26176

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent chromatin remodeler activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables double-stranded DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables forked DNA-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables four-way junction helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded 3'-5' DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hematopoietic stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    chromodomain-helicase-DNA-binding protein 2
    Names
    ATP-dependent helicase CHD2
    NP_001074814.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001081345.2NP_001074814.2  chromodomain-helicase-DNA-binding protein 2

      See identical proteins and their annotated locations for NP_001074814.2

      Status: VALIDATED

      Source sequence(s)
      AC099699, AC154883
      Consensus CDS
      CCDS52274.1
      UniProtKB/Swiss-Prot
      E9PZM4
      Related
      ENSMUSP00000126352.3, ENSMUST00000169922.9
      Conserved Domains (7) summary
      cd00024
      Location:282344
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:503648
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam00176
      Location:487768
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:790905
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:379447
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam13907
      Location:14711553
      DUF4208; Domain of unknown function (DUF4208)
      pfam17104
      Location:10421165
      DUF5102; Domain of unknown function (DUF5102)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      73076400..73191494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)