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FLASH GENE

Symbol

CHD7

contributors: mct - updated : 21-09-2015

HGNC name	chromodomain helicase DNA binding protein 7
HGNC id	20626

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CHARGE CHARGE syndrome DUP8Q12 chromosome 8q12 duplication, including CHD7 HHI5 hypogonadotropic hypogonadism 5 with or without anosmia
Location	8q12.2      Physical location : 61.591.338 - 61.779.463
Synonym name	ATP-dependent helicase CHD7
	chromodomain helicase DNA binding protein 7 isoform CRA_e
Synonym symbol(s)	FLJ20357, FLJ20361, KIAA1416, KAL5, CHD-7, IS3
EC.number	3.6.4.12

DNA

TYPE	functioning gene
STRUCTURE	188.12 kb     38 Exon(s)

regulatory sequence

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017780 38 - 10469 NP_060250 - 2997 - 2010 20130577

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Lymphoid/Immune lymph node       highly Nervous brain diencephalon amygdala       brain hindbrain cerebellum       spinal cord         Respiratory respiratory tract larynx     highly Urinary kidney         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory olfactory     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	ubiquitous

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N-terminal chromodomains, mediating chromatin interactions and interacting with DNA, RNA, and histone targets
	a SNF2-like ATPase/helicase domain
	a DNA-binding domain
	three nuclear localization signals
	three conserved region (CR) domains
	a switching-defective protein 3, adaptor 2, nuclear receptor corepressor, transcription factor IIIB (SANT) domain
	two BRK (Brahma and Kismet) domains
	at the C terminus, a leucine-zipper domain

HOMOLOGY

interspecies

ortholog to murine Chd7

Homologene

FAMILY

SNF2/RAD54 helicase family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome
	intracellular,nucleus,nucleolus
text	also constitutively localized to the nucleolus, the site of rRNA transcription

basic FUNCTION	chromatin-remodeling protein, having helicase activity
	may be playing a pivotal role in early embryonic development
	playing a role in the functional organisation of the nucleus
	first identified chromatin-remodeling protein with a role in puberty
	playing an important role in GNRH1 and olfactory neuron migration to their embryologic destination in the hypothalamus
	essential for the formation of the multipotent migratory neural crest
	critical roles in regulating neurogenesis
	with PBRM1, during neural crest (NC) formation synergistically regulate activity of distal genomic elements that control the expression of critical NC transcription factors, in turn allowing for transcriptional reprogramming, acquisition of multipotency and migratory potential
	may be playing a role in enhancer mediated transcription of key target genes
	dually functions as a regulator of both nucleoplasmic and nucleolar genes
	having a novel function in rRNA synthesis
	functioning at enhancers as a transcriptional rheostat to modulate, or fine-tune the expression levels of ES-specific genes
	can modulate genes in either the positive or negative direction
	SOX2 and CHD7 were known to be involved in neural development, and create a SOX2-CHD7-regulated network
	SOX2 and CHD7 physically interact, have overlapping genome-wide binding sites and regulate a set of common target genes including JAG1, GLI3 and MYCN
	plays a role in transcription regulation by chromatin remodeling
	is a central regulator of vertebrate development, and is an ATP-dependent nucleosome remodeling factor
	plays an important role in cardiac development
	critical, cooperative roles for retinoic acid and CHD7 in subventricular zone (SVZ) neural stem cell function and inner ear development
	is essential for the formation of multipotent migratory neural crest cells, which migrate from the neural tube to many regions of the embryo, where they differentiate into various tissues including craniofacial and heart structures
	regulates genes involved in neural crest cell guidance
	has an important, dosage-dependent role in development of several different craniofacial tissues
	importance of CHD7 in the cardiogenic mesoderm for multiple processes during cardiovascular development (pMID: 26102480)

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule
	ATP binding

protein	interacting with PBRM1 (PBRM1 cooperate to promote neural crest gene expression and cell migration)
	CHD7 and CHD8 proteins are interacting directly and indirectly via additional linker proteins (loss of the direct CHD7–CHD8 interaction might change the conformation of a possible CHD7–CHD8 containing complex, which might be a disease mechanism in CHARGE syndrome)
	binds to gene-enhancer elements and functions as a transcriptional regulator in the nucleoplasm
	coupled with SOX2 cooperatively regulate target genes that are essential during neural stem cell development
	FAM124B is a potential interacting partner of a CHD7 and CHD8 containing complex
	effects of ASH2L in controlling open chromatin structure are manifested further by regulation of MYC and CHD7 expression
	molecular link between CHD7 and KMT2D function likely via their known interaction with members of the WAR complex (WDR5, ASH2L, RBBP5) which has been shown to be involved in histone methylation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CHARGE , DUP8Q12 , HHI5

Susceptibility

to idiopathic scoliosis

Variant & Polymorphism SNP	increasing the risk of idiopathic scoliosis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

loss of Chd7 results in cell-autonomous proliferative, neurogenic and self-renewal defects in the perinatal and mature mouse subventricular zone (SVZ) stem cell niche