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FLASH GENE

Symbol

PRDM5

contributors: mct - updated : 06-09-2016

HGNC name	PR domain containing 5
HGNC id	9349

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BCS2 brittle cornea syndrome
Location	4q27      Physical location : 121.615.929 - 121.844.013
Genatlas name	positive regulatory domain family protein 5
Synonym symbol(s)	BCS2, PFM2
EC.number	2.1.1.-

DNA

TYPE	functioning gene
STRUCTURE	237.96 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
text structure	a CpG island promoter

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_001300823 14 - 5256 NP_001287752 - 599 - 2007 17636019 NM_001300824 14 - 5170 NP_001287753 - 501 - 2007 17636019 NM_018699 16 - 5349 NP_061169 - 630 - 2007 17636019

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 Digestive mouth tongue     highly Respiratory respiratory tract larynx     highly Skeleton           Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one SET domain
	16 zinc finger DNA binding motifs, C2H2 type
	a PR (PRDI-BF1 and RIZ)-domain at the N-terminus

HOMOLOGY

interspecies

homolog to murine Prdm5

intraspecies

homolog to PRDM2

Homologene

FAMILY

PR-domain protein family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in cell differentiation and tumorigenesis
	novel role for PRDM5 in sustaining the transcriptional program necessary to the proper assembly of osteoblastic extracellular matrix
	modulates transcription by interacting with factors involved in genome organization in mouse embryonic stem cells
	epigenetic regulator that has been recognized as an important tumour suppressor gene
	is a relevant tumour suppressor gene that is frequently targeted in colorectal tumourigenesis

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BCS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function results in delayed ossification involving a pronounced impairment in the assembly of fibrillar collagens tumoral         in breast, ovarian, and liver cancers

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer skin   targeting PRDM5 may be promising for the therapy of melanoma

ANIMAL & CELL MODELS