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FLASH GENE

Symbol

PRG4

contributors: mct/npt - updated : 18-12-2009

HGNC name	proteoglycan 4
HGNC id	9364

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CACP camptodactyly- arthropathy-coxa varapericarditis syndrome
Location	1q31.1      Physical location : 186.265.404 - 186.283.686
Synonym name	lubricin
	megakaryocyte stimulating factor
	proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)
	lubricin
	bG174L6.2 (MSF: megakaryocyte stimulating factor)
	megakaryocyte-stimulating factor
	articular superficial zone protein
	superficial zone proteoglycan
Synonym symbol(s)	MSF, SZP, HAPO, JCAP, bG174L6.2, FLJ32635

DNA

TYPE	functioning gene
STRUCTURE	18.28 kb     13 Exon(s)

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

MAPPING

cloned

Y

linked

N

status

provisional

Physical map

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005807 13 - 5059 NP_005798 - 1404 - Flammery, Ikegawa, Jay (2007) exon 1-6 NM_001127708 12 splicing 4936 NP_001121180 - 1363 same as PRG4A Flammery, Ikegawa, Jay (2007) skipping exon 2 NM_001127709 11 splicing 4780 NP_001121181 - 1311 same as A + catilage Flammery, Ikegawa, Jay (2007) skipping exon 4 and 5 NM_001127710 10 splicing 4657 NP_001121182 - 1270 predominantly in cartilage Flammery, Ikegawa, Jay (2007) skipping exon 2, 4, 5

EXPRESSION

Type

widely

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 Cardiovascular heart         Digestive liver         Endocrine pancreas         Lymphoid/Immune spleen           thymus       highly Reproductive female system uterus cervix   highly   male system prostate     highly Respiratory lung         Skeleton appendicular joint

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Connective cartilage

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	placenta, spleen

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal somatomedin B-like domain
	heparin binding site
	chondroitin sulfate attachment site
	oloigosaccharide attachment sites
	mucin-like repeat in the central region
	a C terminal T rich region

HOMOLOGY

Homologene

FAMILY

plasticity-related gene family

CATEGORY

regulatory , secretory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	regulator of ossification
	regulator of intimal cell growth
	mucin-like proteoglycan that is a major lubricant in articulating joints
	superficial zone protein (SZP), an important joint lubricant produced by superficial zone, that are more responsive to stimulation by catabolic cytokines such as IL1 (Taniguchi 2009)
	synovial glycoprotein that has been shown to be a boundary lubricant (Gleghorn 2009)
	brain-specific integral membrane protein implicated in neuronal plasticity, such as filopodia formation and axon growth after brain lesion (Broggini 2010)

CELLULAR PROCESS	cell life, differentiation
	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

text	ossification

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CACP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in synovial fluid associated with an increase in levels of inflammatory cytokines (Elsaid 2008)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS