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Protein Coding Gene : Chd2 chromodomain helicase DNA binding protein 2

Primary Identifier  MGI:2448567 Organism  mouse, laboratory
Chromosome  7 NCBI Gene Number  244059
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

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).
PHENOTYPE: Mice homozygous for a gene trap allele exhibit early postnatal lethality associated with fetal growth retardation. Mice heterozygous for a gene trap allele exhibit postnatal lethality and premature death after weaning associated with growth retardation and multi-organ defects. [provided by MGI curators]
  • synonyms:
  • Chd2,
  • BC029703,
  • chromodomain helicase DNA binding protein 2,
  • MGI:1917209,
  • RIKEN cDNA 2810040A01 gene,
  • RIKEN cDNA 5630401D06 gene,
  • MGI:1924276,
  • MGI:2142057,
  • 2810040A01Rik,
  • AI851092,
  • cDNA sequence BC029703,
  • 5630401D06Rik,
  • expressed sequence AI851092,
  • RIKEN cDNA 2810013C04 gene,
  • 2810013C04Rik,
  • MGI:1918687

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3 Involved In Mutations

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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