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FLASH GENE

Symbol

GPC6

contributors: mct/np - updated : 25-05-2013

HGNC name	glypican 6
HGNC id	4454

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	OMD omodysplasia
Location	13q31.3      Physical location : 93.879.077 - 95.060.267
Synonym name	glypican proteoglycan 6
Synonym symbol(s)	MGC126288, OMIMD1

DNA

TYPE	functioning gene
STRUCTURE	1181.20 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

juxtaposed to GPC5

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005708 9 - 7114 NP_005699 60.4 555 - Campos-Xavier (2009)

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 Nervous brain hindbrain cerebellum     Homo sapiens Fetal   brain         Homo sapiens Fetal

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Homo sapiens Adult Nervous astrocyte Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	kidney, highly

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

anchored to the membrane via a glycosyl phosphatidylinositol anchor, with 13 cysteines at conserved position

HOMOLOGY

intraspecies

homolog to GPC4

Homologene

FAMILY

GPI- linked-glypican family

CATEGORY

signaling growth factor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION	involved in cellular growth control and differentiation
	cell surface proteoglycan that bears heparan sulfate
	putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases
	playing a role in enchondral ossification and long-bone elongation (Campos-Xavier 2009)
	astrocyte-secreted signals sufficient to induce functional synapses between purified retinal ganglion cell neurons
	GPC4 and GPC6 are astrocyte-derived molecules necessary and sufficient to promote glutamate receptor clustering and receptivity and to induce the formation of postsynaptically functioning CNS synapses

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

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

is a novel NFATC1, NFATC2, NFATC3, NFATC4 target gene in breast cancer cells that promotes invasive migration through WNT5A signalling

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OMD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in GPC6 mRNA in retinoblastoma is associated with the non-random allelic loss at 13q31 that could contribute to RB development

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS