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

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: human all
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Genomic context

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Studies results provide initial insight into how Chd2 haploinsufficiency leads to aberrant cortical network function and impaired memory.
Title: Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory.
Chd2 is essential in preventing suppressive chromatin formation for developmentally regulated genes and determines subsequent effects on developmental processes in the undifferentiated state.
Title: Chd2 regulates chromatin for proper gene expression toward differentiation in mouse embryonic stem cells.
inactivation of CHD2 during neurogenesis might contribute to abnormal neurodevelopment
Title: CHD2 is Required for Embryonic Neurogenesis in the Developing Cerebral Cortex.
The data indicated that MyoD determines cell fate and facilitates differentiation- dependent gene expression through Chd2-dependent deposition of H3.3 at myogenic loci prior to differentiation.
Title: Chd2 interacts with H3.3 to determine myogenic cell fate.
Study present evidence that the Chd2 mutant cells are defective in their ability to repair DNA damage induced by ionizing and ultraviolet radiation.
Title: Chromodomain helicase DNA-binding protein 2 affects the repair of X-ray and UV-induced DNA damage.
Chd2-mutant mice present with glomerulopathy, proteinuria, and significantly impaired kidney function.
Title: A mutation in the mouse Chd2 chromatin remodeling enzyme results in a complex renal phenotype.
Chd2 heterozygous mutant mice exhibit increased extramedullary hematopoiesis and susceptibility to lymphomas.
Title: Role of chromodomain helicase DNA-binding protein 2 in DNA damage response signaling and tumorigenesis.
Our results demonstrate that mutation of Chd2 dramatically affects mammalian development and long-term survival.
Title: Mutation of the SNF2 family member Chd2 affects mouse development and survival.

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Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Gene trapped (1) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB375928 (e-PCR)
- UniSTS:208148

AI851092 (e-PCR)
- UniSTS:165533

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

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Preferred Names: chromodomain-helicase-DNA-binding protein 2

Names: ATP-dependent helicase CHD2

NP_001074814.2

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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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)

NM_001081345.2 → NP_001074814.2 chromodomain-helicase-DNA-binding protein 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:282 → 344

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:503 → 648

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:487 → 768

SNF2_N; SNF2 family N-terminal domain

pfam00271
Location:790 → 905

Helicase_C; Helicase conserved C-terminal domain

pfam00385
Location:379 → 447

Chromo; Chromo (CHRromatin Organization MOdifier) domain

pfam13907
Location:1471 → 1553

DUF4208; Domain of unknown function (DUF4208)

pfam17104
Location:1042 → 1165

DUF5102; Domain of unknown function (DUF5102)