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FLASH GENE

Symbol

ZBTB20

contributors: mct/npt - updated : 19-01-2022

HGNC name	zinc finger and BTB domain containing 20
HGNC id	13503

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PRIMS Primrose syndrome
Location	3q13.31      Physical location : 114.056.946 - 114.866.127
Synonym name	dendritic-derived BTB/POZ zinc finger protein
	zinc finger protein 288
	ortholog of mouse BTB (broad complex tramtrack bric-brac)/POZ
	(px-virus and zinc finger) domain zinc finger factor HOF
Synonym symbol(s)	HOF, DPZF, ZNF288, ODA-8S, DKFZP566F123, A930017C21Rik, FLJ26458, DPZF, FLJ13240

DNA

TYPE	functioning gene
STRUCTURE	832.79 kb     10 Exon(s)

motif

repetitive sequence   ALU   long interspersed repetitive elements

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_001164342 6 - 26911 NP_001157814 - 741 - 2021 33777314 NM_001164343 12 - 27373 NP_001157815 - 668 - 2021 33777314 NM_001164344 8 - 27167 NP_001157816 - 668 - 2021 33777314 NM_001164345 7 - 27121 NP_001157817 - 668 - 2021 33777314 NM_001164346 6 - 26930 NP_001157818 - 668 - 2021 33777314 NM_001164347 6 - 26952 NP_001157819 - 668 - 2021 33777314 NM_015642 10 - 27143 NP_056457 - 668 - 2021 33777314 NM_001348801 12 - 27229 NP_001335730 - 668 - 2021 33777314 NM_001348800 12 - 27503 NP_001335729 - 741 - 2021 33777314 NM_001348803 13 - 27626 NP_001335732 - 741 - 2021 33777314 NM_001348802 11 - 27238 NP_001335731 - 668 - 2021 33777314 NM_001348804 10 - 27207 NP_001335733 - 668 - 2021 33777314 NM_001348805 11 - 27403 NP_001335734 - 668 - 2021 33777314 NM_001393396 7 - 27028 NP_001380325 - 668 - 2021 33777314 NM_001393393 8 - 27192 NP_001380322 - 741 - 2021 33777314 NM_001393394 9 - 27258 NP_001380323 - 741 - 2021 33777314 NM_001393395 8 - 27074 NP_001380324 - 668 - 2021 33777314

EXPRESSION

Type

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 Endocrine thyroid       moderately Hearing/Equilibrium ear       predominantly Lymphoid/Immune lymph node       highly   spleen         Nervous brain limbic system hippocampus     Homo sapiens Fetal   ganglia sensory ganglia dorsal root   highly Homo sapiens Reproductive male system prostate     moderately   male system testis     moderately Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Lymphoid         Muscular       moderately

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Blood/Hematopoietic monocyte Lymphoid/Immune B cell

cell lineage
cell lines	lymphoid neoplasm cell lines (B lymphoma)
fluid/secretion

at STAGE

physiological period

fetal

Text

liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a BTB/POZ domain at the N terminus for protein-protein interaction
	five C2H2 type zinc finger domains at the C terminus

conjugated

MetalloP

HOMOLOGY

interspecies	homolog to rattus Zbtb20 (97.3 pc)
	homolog to murine Zbtb20 (97.6 pc)

intraspecies

homolog to BCL6

Homologene

FAMILY	C2H2 zinc finger protein family, POK family of proteins
	ZBTB family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm,nuclear bodies
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in brain development, in hematopoiesis, oncogenesis and immune responses
	may be playing a role in hippocampal neurogenesis
	transcriptional repressor capable of specifically inhibiting AFP promoter-driven transcriptional activity
	key repressor governing AFP gene transcription in postpartum liver
	function primarily as transcriptional repressors via interactions mediated by their conserved C2H2 Krüppel type zinc finger and BTB/POZ domains (Sutherland 2009)
	plays a nonredundant role in the control of postnatal metabolism, growth, and survival (Sutherland 2009)
	likely would coordinately control the expression of a range of postnatally regulated genes in the liver (Sutherland 2009)
	acts as a transcriptional repressor of alpha-fetoprotein gene and may also be involved in corticogenesis (Xie 2010)
	disclosed ZBTB20-mediated transcriptional repressor mechanism may be involved in development of the human archicortex
	is a critical regulator of nociception and pain sensation by modulating TRP channels expression in nociceptors
	is a crucial regulator governing the terminal differentiation of hypertrophic chondrocytes at least partially through repression of SOX9 (pMID: 25564625)
	is a key determinant of astrocytogenesis, in which it collaborates with SOX9 and NFIA, and acts in part through direct repression of POU3F2 expression
	is a critical regulator of anterior pituitary development and lactotrope specification
	play a role for hippocampal development
	during embyogenesis has a dynamic spatio-temporal expression pattern in mitotic cortical progenitors through which it modulates the sequential generation of cortical neuronal layer identities
	is a novel temporal regulator for the generation of layer-specific neuronal identities
	ZBTB20 is an essential regulator of hepatic lipogenesis
	role in dendritic and synaptic structure (PMD: 30281617)
	plays likely a crucial role in the regulation of heart development, energy metabolism, and contractility
	implicated in regulation of cell specification during neocortical development
	ZBTB20 actslikely both in progenitors and in postmitotic cells to regulate cell fate specification in the mammalian neocortex

CELLULAR PROCESS	nucleotide, transcription, regulation
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

development , immunity/defense

text	hematopoiesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein	bound to AFP promoter directly (key regulator governing AFP gene transcription and is a new model for the postnatal gene repression of AFP in liver)
	ZBTB20 could inhibit NFKBIA transcription, govern NFKBIA protein expression, then promote NFKB1 activation, and is needed to promote full activation of TLR signaling and TLR-triggered innate immune response by selectively suppressing the suppressor NFKBIA gene transcription
	disruption of ZBTB20 in nociceptors led to a marked decrease in the expression levels of TRPV1, TRPA1 and TRPM8
	ZBTB20 regulates the terminal differentiation of hypertrophic chondrocytes by repressing SOX9
	is a sequence-specific transcriptional repressor of AFP
	in the astrocyte lineage, ZBTB20 directly represses the expression of POU3F2, which encodes a protein necessary for upper-layer neuron specification
	regulation of LPL expression by ZBTB20 is liver-specific under physiological conditions

cell & other

REGULATION

Other

SUMOylation controls the neurodevelopmental function of the transcription factor ZBTB20

ASSOCIATED DISORDERS

corresponding disease(s)

PRIMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function caused a delay in cartilage vascularization and an expansion of the hypertrophic zone owing to reduced expression of VEGFA in the hypertrophic zone tumoral     --over   in lung cancer tissues, compared with adjacent normal tissues

Susceptibility

Variant & Polymorphism

Candidate gene	candidate prognostic marker in hepatocellular carcinoma
Marker
Therapy target
	System Type Disorder Pubmed digestive liver steatosis may be a therapeutic target for the treatment of fatty liver disease

ANIMAL & CELL MODELS

	Zbtb20 null mice display a stark phenotype characterized by postnatal growth retardation, metabolic dysfunction, and lethality; Zbtb20 knockout mice displayed abnormal glucose homeostasis, hormonal responses, and depletion of energy stores, consistent with an energetic deficit (Sutherland 2009)
	hippocampus of Zbtb20 null mice was reduced in size, and exhibited increased apoptotic cell death during postnatal development (Xie 2010)
	mice lacking Zbtb20 specifically in nociceptors showed a defect in nociception and pain sensation in response to thermal, mechanical and inflammatory stimulation
	in Zbtb20-null mice, although lactotrope lineage commitment is normally initiated, somatolactotropes exhibit profound defects in lineage specification and expansion
	mice lacking Zbtb20 in the liver exhibit hypolipidemia and reduced levels of liver triglycerides, along with impaired hepatic lipogenesis