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FLASH GENE

Symbol

SUZ12

contributors: mct - updated : 29-04-2010

HGNC name	suppressor of zeste 12 homolog (Drosophila)
HGNC id	17101

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NF1DEL neurofibromatosis type 1 (see NF1) caused by microdeletions in 17q11.2
Location	17q11.2      Physical location : 30.264.043 - 30.328.057
Synonym name	joined to JAZF1, in the region of NF1
	KIAA0160 protein
	ChET 9 protein
	polycomb protein SUZ12
	chromatin precipitated E2F target 9 protein
	ChET 9 protein
Synonym symbol(s)	KIAA0160, CHET9, JJAZ1

DNA

TYPE	functioning gene
STRUCTURE	64.01 kb     16 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

NF1 region, gross deletion

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015355 16 - 4477 NP_056170 - 739 - 2002 12435631

EXPRESSION

Type	ubiquitous

constitutive of

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 pancreas         Hearing/Equilibrium ear inner cochlea   highly Lymphoid/Immune lymph node       highly Nervous brain limbic system hippocampus       brain hindbrain cerebellum cerebellar cortex highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol   bone marrow     highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell Nervous pyramidal cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C terminal zinc finger domain

HOMOLOGY

interspecies

homolog to drosophila Suz12

Homologene

FAMILY

VEFS (VRN2-EMF2-FIS2-SU(Z)12) family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	polycomb group protein mediating mitotic recombination causing somatic mosaicism in NF1
	strong suppressor of position effect variegation
	playing a necessary role for trimethylation of histone H3 on lysine 27 (H3K27me3) on facultative heterochromatin, and regulating H3-K9 methylation in an EZH2-independent fashion
	playing a role in constitutive heterochromatin formation
	silences CEBPD promoter activity, enhancing the methylation of exogenous CEBPD promoter through the proximal CpG islands
	both EED and SUZ12 are required for the integrity of PRC2 and PRC2-mediated H3K27 methylation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	part of EED/EZH2 histone methyltransferase complexes
	component of the polycomb repressive complex 2 (PRC2)
	part of PRC2 complex containing four core components: EZH2, EED, SUZ12, and RBBP7

INTERACTION

DNA

RNA

small molecule

protein	Yin-Yang-1 (YY1) physically interacts with SUZ12 and can act as a mediator to recruit the polycomb group proteins and DNA methyltransferases to participate in the CEBPD gene silencing process
	interacts with EED, EZH2 and RBBP4 to form the polycomb repressive complex 2 (PRC2), which functions to initiate epigenetic silencing of genes involved in cell fate decisions
	putative target of the WNT noncanonical signaling pathway
	interacting with SNAI1 (SNAI1 increases the binding of SUZ12 to the CDH1 promoter and the trimethylation of lysine 27 in histone H3)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NF1DEL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     with JAZF1 in t(7;17) (p15;q21) in endometrial stromal sarcoma tumoral     --over   in bone marrow samples of patients at the blastic phase of chronic myeloid leukemia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS