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    CHD2 chromodomain helicase DNA binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 1106, updated on 19-May-2018
    Official Symbol
    CHD2provided by HGNC
    Official Full Name
    chromodomain helicase DNA binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:1917
    See related
    Ensembl:ENSG00000173575 MIM:602119; Vega:OTTHUMG00000185958
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EEOC
    Summary
    The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 26.2), thyroid (RPKM 13.2) and 25 other tissues See more
    Orthologs
    See CHD2 in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (92900321..93028007)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (93442286..93571237)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene FAM174B-LINC01578 intergenic CAGE-defined high expression enhancer Neighboring gene long intergenic non-protein coding RNA 1578 Neighboring gene microRNA 3175 Neighboring gene uncharacterized LOC105370979 Neighboring gene Y-box binding protein 2 pseudogene Neighboring gene repulsive guidance molecule BMP co-receptor a

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-08-01)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-08-01)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent DNA helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    RNA binding HDA PubMed 
    core promoter sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    hematopoietic stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    muscle organ development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    chromodomain-helicase-DNA-binding protein 2
    Names
    ATP-dependent helicase CHD2
    CHD-2
    NP_001036037.1
    NP_001262.3

    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.

    Genomic

    1. NG_012826.1 RefSeqGene

      Range
      5001..132687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042572.2NP_001036037.1  chromodomain-helicase-DNA-binding protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001036037.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' exons and has an alternate 3' end, as compared to variant 1. The encoded isoform (2) has a much shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      BC007347, BU630151, CN277753
      Consensus CDS
      CCDS45356.1
      UniProtKB/Swiss-Prot
      O14647
      Related
      ENSP00000406581.2, OTTHUMP00000246835, ENST00000420239.6, OTTHUMT00000415078
      Conserved Domains (2) summary
      cd00024
      Location:295344
      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 ...
      pfam00385
      Location:378447
      Chromo; Chromo (CHRromatin Organisation MOdifier) domain
    2. NM_001271.3NP_001262.3  chromodomain-helicase-DNA-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001262.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA907775, AC013394, AF006514, CT003638, DB111282, DB121252
      Consensus CDS
      CCDS10374.2
      UniProtKB/Swiss-Prot
      O14647
      Related
      ENSP00000377747.4, OTTHUMP00000194776, ENST00000394196.8, OTTHUMT00000313528
      Conserved Domains (8) 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
      pfam08648
      Location:16611749
      DUF1777; Protein of unknown function (DUF1777)
      pfam13907
      Location:14711553
      DUF4208; Domain of unknown function (DUF4208)
      pfam17104
      Location:10421165
      DUF5102; Domain of unknown function (DUF5102)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      92900321..93028007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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