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FLASH GENE

Symbol

ZBTB18

contributors: mct - updated : 14-01-2017

HGNC name	zinc finger and BTB domain containing 18
HGNC id	13030

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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       highly Digestive intestine small intestine     highly Nervous brain forebrain cerebral cortex   highly Mus musculus Fetal   brain hindbrain cerebellum   highly Homo sapiens   brain diencephalon amygdala     Mus musculus Fetal

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a BTB/POZ zinc finger N terminal domain
	four zinc finger-like domains at the C terminus

conjugated

MetalloP

HOMOLOGY

interspecies

homolog to murine Znf238

Homologene

FAMILY

zinc finger protein family, C2H2 type

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	playing a role in transcriptional repression in the central nervous system
	may play an important role in brain development and function
	potentially controls cell division of progenitor cells and regulates the survival of postmitotic cortical neurons
	is expressed in postmitotic brain cells and inhibits brain tumor growth
	is involved in control of neuronal progenitor cells and survival of cortical neurons, and is implicated with CEP170 as novel genes causative for corpus callosal abnormalities in patients with a terminal 1q deletion
	may act to favor neuronal differentiation and brain growth by coherently repressing multiple proneurogenic genes in a timely manner
	key regulator that controls the self-renewal and differentiation of neural stem cells (NSCs) and restriction of astrogenesis by repressing ID1, ID2, ID3, ID4 genes during corticogenesis
	is essential for the growth and organization of the cerebellum and regulates the development of both GABAergic and glutamatergic neurons
	key regulator of neuronal migration via multipolar-to-bipolar transition
	functions in cell-autonomous multipolar-to-bipolar transition, independent of cell-cycle exit
	is a key player in the transcriptional control of cell migration in the developing cerebral cortex

CELLULAR PROCESS	cell life
	nucleotide, transcription, regulation
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein	recruiting DNMT3A to HDAC1 to silence transcription
	NEUROG2 is a direct upstream activator of ZBTB18 expression
	ZBTB18 represses NEUROG2 transcription to regulate the NEUROG2-RND2 pathway
	negative regulation of RND2 by ZNF238 was important for cortical cell migration
	CTBP2 interacted with ZBTB18 to affect biological characteristics of GBM cells, and the tumor growth, which may be related to the SHH-GLI1 pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL1Q44

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     neural-specific deletion of the BTB/POZ zinc-finger transcription factor-encoding gene ZBTB18 causes severe cerebellar hypoplasia and developmental failure of Purkinje neurons, Bergmann glia and granule neurons tumoral       loss of function in glioblastoma (GBM)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Rp58 knockout (KO) mice demonstrated enhanced astrogenesis accompanied with an excess of neural stem cells (NSCs)
	mice with loss of Rp58 die at birth with neocortical defects