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FLASH GENE

Symbol

PRDM2

contributors: mct - updated : 31-03-2008

HGNC name	PR domain containing 2, with ZNF domain
HGNC id	9347

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p36.21      Physical location : 14.026.734 - 14.151.572
Synonym name	retinoblastoma RB1 protein interacting zinc finger RIZ
	positive regulatory domain family protein 2
	GATA-3 binding protein G3B
	MTE-binding protein
	zinc-finger DNA-binding protein
	lysine N-methyltransferase 8
Synonym symbol(s)	RIZ, RIZ1, RIZ2, HUMHOXY1, MTB-ZF, KMT8
EC.number	2.1.1.43

DNA

TYPE	functioning gene
STRUCTURE	124.84 kb     10 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   HRE
motif
text structure	RB binding motif

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see TSG1C

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012231 10 - 7970 NP_036363 - 1718 - 2008 18488713 contains the PR (PRDI-BF1 and RIZ homologous) domain having multiple zinc finger motifs that recognize specific DNA sequences candidate tumour suppressor commonly silenced in many types of tumors NM_001007257 4 initiation site 6206 NP_001007258 162 1481 normally in breast cancer 2008 18082620 also called RIZ2 (MTBZF), or variant 3/isoform c lacking a N terminal motif enhancement of its expression may have an important role in leukaemogenesis NM_015866 9 - 7466 NP_056950 - 1682 - 2008 18037365 NM_001135610 8 - 2715 NP_001129082 - 226 - -

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 Lymphoid/Immune lymph node       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Connective bone     highly Muscular striatum skeletal   highly

cell lineage	retinoblastoma cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a PR/SET motif at its N-terminus (AA 30
	140)
	eight zinc finger motifs
	Krüppel-like with the PRD domain (PRD1-BF1-RIZ1), lacking in RIZ2, leucine zipper, GTPase, SH3 and pRB domains
	a PR binding domain in the C terminal region, flexible, similar to SET domains, mediating interactions or oligomerization, and involved in methylation of H3
	a SET domain

HOMOLOGY

interspecies

homolog to murine Prdm2

Homologene

FAMILY	nuclear histone/ protein methyltransferase superfamily
	PR-domain protein family

CATEGORY

enzyme , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	histone methyltransferase, acting as a putative tumor suppressor
	transcriptional regulation during neuronal differentiation
	involved in B cell differentiation and the development of B cell lymphomas

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein	RIZ interacting
	associate with promoter regions of IGF1 and increase histone H3 lysine 9 methylation (may contribute to potential CML tumor suppressor properties of PRDM2
	interacting with YY1 (coexpression of PRDM2/YY1 proteins suggests a tandem regulatory mechanism in human osteosarcoma cells and tissues)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in acute lymphoblastic leukemia tumoral       loss of function by DNA methylation in liver and breast and stomach cancer tumoral   LOH     in pheochromocytomas and paragangliomas tumoral       loss of function in pheochromocytomas and paragangliomas

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer hemopathy   therapeutic potential of inhibiting IGF1 pathway in the acute phase of CML (chronic myelogenous leukemia)

ANIMAL & CELL MODELS